Incidental Mutation 'R1902:Itgb4'
| ID |
212372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb4
|
| Ensembl Gene |
ENSMUSG00000020758 |
| Gene Name |
integrin beta 4 |
| Synonyms |
CD104 |
| MMRRC Submission |
039922-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1902 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115865556-115899238 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115871564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 179
(V179A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021107]
[ENSMUST00000068981]
[ENSMUST00000106458]
[ENSMUST00000106460]
[ENSMUST00000106461]
[ENSMUST00000169928]
|
| AlphaFold |
A2A863 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021107
AA Change: V179A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021107
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
712 |
1.32e-28 |
SMART |
|
low complexity region
|
715 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
737 |
756 |
N/A |
INTRINSIC |
|
Calx_beta
|
980 |
1085 |
3.13e-35 |
SMART |
|
FN3
|
1125 |
1203 |
3.15e-8 |
SMART |
|
FN3
|
1218 |
1305 |
6.29e-8 |
SMART |
|
low complexity region
|
1324 |
1332 |
N/A |
INTRINSIC |
|
FN3
|
1508 |
1589 |
1.79e-12 |
SMART |
|
FN3
|
1621 |
1705 |
1.7e-13 |
SMART |
|
low complexity region
|
1738 |
1751 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068981
AA Change: V179A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070811
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
713 |
7.06e-29 |
SMART |
|
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
transmembrane domain
|
738 |
757 |
N/A |
INTRINSIC |
|
Calx_beta
|
981 |
1086 |
3.13e-35 |
SMART |
|
FN3
|
1129 |
1207 |
3.15e-8 |
SMART |
|
FN3
|
1222 |
1309 |
6.29e-8 |
SMART |
|
low complexity region
|
1328 |
1336 |
N/A |
INTRINSIC |
|
FN3
|
1459 |
1540 |
1.79e-12 |
SMART |
|
FN3
|
1572 |
1656 |
1.7e-13 |
SMART |
|
low complexity region
|
1689 |
1702 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106458
AA Change: V179A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102066
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
713 |
7.06e-29 |
SMART |
|
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
transmembrane domain
|
738 |
757 |
N/A |
INTRINSIC |
|
Calx_beta
|
981 |
1086 |
3.13e-35 |
SMART |
|
FN3
|
1129 |
1207 |
3.15e-8 |
SMART |
|
FN3
|
1222 |
1309 |
6.29e-8 |
SMART |
|
low complexity region
|
1328 |
1336 |
N/A |
INTRINSIC |
|
low complexity region
|
1413 |
1425 |
N/A |
INTRINSIC |
|
FN3
|
1524 |
1605 |
1.79e-12 |
SMART |
|
FN3
|
1637 |
1721 |
1.7e-13 |
SMART |
|
low complexity region
|
1754 |
1767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106460
AA Change: V179A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102068
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
713 |
7.06e-29 |
SMART |
|
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
transmembrane domain
|
738 |
757 |
N/A |
INTRINSIC |
|
Calx_beta
|
981 |
1086 |
3.13e-35 |
SMART |
|
FN3
|
1129 |
1207 |
3.15e-8 |
SMART |
|
FN3
|
1222 |
1309 |
6.29e-8 |
SMART |
|
low complexity region
|
1328 |
1336 |
N/A |
INTRINSIC |
|
FN3
|
1512 |
1593 |
1.79e-12 |
SMART |
|
FN3
|
1625 |
1709 |
1.7e-13 |
SMART |
|
low complexity region
|
1742 |
1755 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106461
AA Change: V179A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102069
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
713 |
7.06e-29 |
SMART |
|
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
transmembrane domain
|
738 |
757 |
N/A |
INTRINSIC |
|
Calx_beta
|
981 |
1086 |
3.13e-35 |
SMART |
|
FN3
|
1129 |
1207 |
3.15e-8 |
SMART |
|
FN3
|
1222 |
1309 |
6.29e-8 |
SMART |
|
low complexity region
|
1328 |
1336 |
N/A |
INTRINSIC |
|
low complexity region
|
1413 |
1425 |
N/A |
INTRINSIC |
|
FN3
|
1524 |
1605 |
1.79e-12 |
SMART |
|
FN3
|
1637 |
1721 |
1.7e-13 |
SMART |
|
low complexity region
|
1754 |
1767 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151691
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169928
AA Change: V179A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127604
Gene: ENSMUSG00000020758
AA Change: V179A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
PSI
|
30 |
74 |
3.89e-1 |
SMART |
|
INB
|
38 |
457 |
4.23e-213 |
SMART |
|
VWA
|
130 |
361 |
8.29e-1 |
SMART |
|
EGF_like
|
544 |
576 |
3.23e1 |
SMART |
|
Integrin_B_tail
|
628 |
712 |
1.32e-28 |
SMART |
|
low complexity region
|
715 |
732 |
N/A |
INTRINSIC |
|
transmembrane domain
|
737 |
756 |
N/A |
INTRINSIC |
|
Calx_beta
|
980 |
1085 |
3.13e-35 |
SMART |
|
FN3
|
1125 |
1203 |
3.15e-8 |
SMART |
|
FN3
|
1218 |
1305 |
6.29e-8 |
SMART |
|
low complexity region
|
1324 |
1332 |
N/A |
INTRINSIC |
|
FN3
|
1508 |
1589 |
1.79e-12 |
SMART |
|
FN3
|
1621 |
1705 |
1.7e-13 |
SMART |
|
low complexity region
|
1738 |
1751 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations die shortly after birth with extensive detachment of the epidermis and other squamus epithelia. Stratified tissues lack hemidesmosomes and simple epithelia are also defective in adherence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 128 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
T |
12: 18,584,004 (GRCm39) |
Q355* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,303,795 (GRCm39) |
R73* |
probably null |
Het |
| Adra1a |
T |
C |
14: 66,875,684 (GRCm39) |
S220P |
probably benign |
Het |
| Ano2 |
A |
T |
6: 125,849,647 (GRCm39) |
E126D |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,861,300 (GRCm39) |
Q488K |
probably damaging |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Atxn7l3b |
A |
G |
10: 112,764,578 (GRCm39) |
I17T |
probably benign |
Het |
| Bpifb9a |
A |
T |
2: 154,103,911 (GRCm39) |
N118I |
probably benign |
Het |
| Btbd9 |
A |
T |
17: 30,749,202 (GRCm39) |
D37E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,713,798 (GRCm39) |
|
probably null |
Het |
| Capn13 |
G |
A |
17: 73,633,356 (GRCm39) |
S535F |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,337 (GRCm39) |
P615Q |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,020,652 (GRCm39) |
I479T |
possibly damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,411,788 (GRCm39) |
M532I |
probably benign |
Het |
| Cdc42bpb |
T |
G |
12: 111,292,450 (GRCm39) |
S362R |
probably damaging |
Het |
| Ceacam11 |
A |
T |
7: 17,709,252 (GRCm39) |
H150L |
probably benign |
Het |
| Cfap44 |
A |
C |
16: 44,242,737 (GRCm39) |
T714P |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,469,749 (GRCm39) |
I1369V |
possibly damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,021,867 (GRCm39) |
D92G |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,120,980 (GRCm39) |
|
probably null |
Het |
| Csf1r |
A |
G |
18: 61,263,213 (GRCm39) |
T896A |
probably damaging |
Het |
| Csf3r |
T |
C |
4: 125,936,711 (GRCm39) |
F658S |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,349,329 (GRCm39) |
Y126* |
probably null |
Het |
| Cul7 |
T |
C |
17: 46,966,666 (GRCm39) |
L365P |
probably damaging |
Het |
| Cxcl5 |
T |
C |
5: 90,907,644 (GRCm39) |
V72A |
probably damaging |
Het |
| Cyp4v3 |
T |
A |
8: 45,759,989 (GRCm39) |
H521L |
probably benign |
Het |
| Dct |
T |
C |
14: 118,271,690 (GRCm39) |
N380S |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,041,716 (GRCm39) |
D85G |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,574,637 (GRCm39) |
D1709G |
probably damaging |
Het |
| Dnai1 |
A |
T |
4: 41,625,319 (GRCm39) |
K428* |
probably null |
Het |
| Dsc1 |
A |
T |
18: 20,229,045 (GRCm39) |
V415D |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,520,920 (GRCm39) |
H467R |
probably benign |
Het |
| Eddm3b |
T |
A |
14: 51,354,321 (GRCm39) |
I103N |
probably damaging |
Het |
| Gal3st2c |
T |
G |
1: 93,936,611 (GRCm39) |
N185K |
probably damaging |
Het |
| Ganc |
T |
C |
2: 120,276,963 (GRCm39) |
L675P |
probably damaging |
Het |
| Garin3 |
A |
T |
11: 46,297,838 (GRCm39) |
T381S |
probably benign |
Het |
| Gdf9 |
G |
A |
11: 53,327,780 (GRCm39) |
M245I |
probably benign |
Het |
| Gm21886 |
G |
A |
18: 80,132,633 (GRCm39) |
T175I |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,629,415 (GRCm39) |
L269P |
probably damaging |
Het |
| Grm8 |
T |
C |
6: 27,429,481 (GRCm39) |
Y471C |
probably damaging |
Het |
| Gucy2g |
T |
A |
19: 55,198,669 (GRCm39) |
T825S |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,394,845 (GRCm39) |
M16K |
probably damaging |
Het |
| Iffo2 |
T |
C |
4: 139,335,012 (GRCm39) |
S124P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
| Il22ra1 |
A |
T |
4: 135,478,219 (GRCm39) |
Q430L |
probably damaging |
Het |
| Il23r |
A |
C |
6: 67,400,718 (GRCm39) |
D537E |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Itpr2 |
T |
A |
6: 146,131,201 (GRCm39) |
H1968L |
probably damaging |
Het |
| Kdm4a |
A |
G |
4: 118,017,596 (GRCm39) |
V490A |
probably benign |
Het |
| Kif13a |
A |
T |
13: 46,941,638 (GRCm39) |
D946E |
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,589,651 (GRCm39) |
I104N |
probably damaging |
Het |
| Klk6 |
A |
C |
7: 43,475,481 (GRCm39) |
M1L |
probably benign |
Het |
| Krt78 |
A |
T |
15: 101,855,398 (GRCm39) |
C804* |
probably null |
Het |
| Larp7 |
A |
T |
3: 127,334,227 (GRCm39) |
N533K |
probably damaging |
Het |
| Lrit3 |
T |
C |
3: 129,584,895 (GRCm39) |
T288A |
probably benign |
Het |
| Lrp11 |
T |
A |
10: 7,499,544 (GRCm39) |
L245Q |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,750,673 (GRCm39) |
S2964G |
probably damaging |
Het |
| Lrrc66 |
C |
T |
5: 73,764,965 (GRCm39) |
V693M |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,364,958 (GRCm39) |
M3268L |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,289,443 (GRCm39) |
S161P |
possibly damaging |
Het |
| Mettl25 |
A |
G |
10: 105,661,948 (GRCm39) |
S341P |
probably damaging |
Het |
| Morc3 |
A |
G |
16: 93,667,385 (GRCm39) |
T588A |
probably damaging |
Het |
| Mospd3 |
A |
G |
5: 137,598,677 (GRCm39) |
S21P |
probably damaging |
Het |
| Mrpl57 |
T |
A |
14: 58,064,186 (GRCm39) |
F71L |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,470,111 (GRCm39) |
L594S |
probably damaging |
Het |
| Mthfd2 |
T |
C |
6: 83,283,713 (GRCm39) |
N323S |
probably damaging |
Het |
| Muc5b |
G |
T |
7: 141,417,842 (GRCm39) |
S3596I |
possibly damaging |
Het |
| Mug1 |
A |
G |
6: 121,858,780 (GRCm39) |
D1166G |
probably benign |
Het |
| Nav1 |
T |
G |
1: 135,400,148 (GRCm39) |
N474T |
probably benign |
Het |
| Ncoa1 |
A |
T |
12: 4,389,049 (GRCm39) |
D75E |
possibly damaging |
Het |
| Ncor1 |
A |
C |
11: 62,228,984 (GRCm39) |
I958S |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,361,563 (GRCm39) |
S234G |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,068,818 (GRCm39) |
S240P |
probably damaging |
Het |
| Nox3 |
C |
T |
17: 3,720,292 (GRCm39) |
V298M |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,543,234 (GRCm39) |
D320G |
possibly damaging |
Het |
| Nudt13 |
C |
G |
14: 20,360,709 (GRCm39) |
T174R |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,264,360 (GRCm39) |
|
probably null |
Het |
| Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
| Or10al3 |
T |
A |
17: 38,012,312 (GRCm39) |
H250Q |
probably damaging |
Het |
| Or10g3 |
T |
G |
14: 52,610,174 (GRCm39) |
Q112P |
possibly damaging |
Het |
| Or1l8 |
T |
C |
2: 36,817,197 (GRCm39) |
I310V |
probably benign |
Het |
| Or2a52 |
T |
A |
6: 43,144,657 (GRCm39) |
|
probably null |
Het |
| Or4a72 |
A |
T |
2: 89,405,947 (GRCm39) |
L41Q |
possibly damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,526 (GRCm39) |
D18E |
probably benign |
Het |
| Or5g25 |
T |
C |
2: 85,478,201 (GRCm39) |
S155G |
possibly damaging |
Het |
| Or6c216 |
G |
T |
10: 129,678,375 (GRCm39) |
P179T |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,692 (GRCm39) |
V276A |
probably damaging |
Het |
| Or8g4 |
T |
C |
9: 39,662,102 (GRCm39) |
V140A |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,256,918 (GRCm39) |
D404G |
possibly damaging |
Het |
| Parp14 |
C |
T |
16: 35,673,888 (GRCm39) |
|
probably null |
Het |
| Pde3a |
C |
A |
6: 141,444,496 (GRCm39) |
N1101K |
probably benign |
Het |
| Plcb1 |
G |
A |
2: 134,655,533 (GRCm39) |
V38I |
possibly damaging |
Het |
| Plec |
T |
A |
15: 76,059,751 (GRCm39) |
E3417D |
probably damaging |
Het |
| Ppfibp2 |
C |
T |
7: 107,345,585 (GRCm39) |
P869L |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,034,752 (GRCm39) |
I99N |
probably damaging |
Het |
| Pramel5 |
G |
A |
4: 144,000,433 (GRCm39) |
Q48* |
probably null |
Het |
| Prr13 |
C |
A |
15: 102,369,133 (GRCm39) |
|
probably benign |
Het |
| Psg22 |
T |
A |
7: 18,458,363 (GRCm39) |
Y312* |
probably null |
Het |
| Ptchd4 |
A |
T |
17: 42,814,507 (GRCm39) |
I803L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,120,092 (GRCm39) |
D56G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,685 (GRCm39) |
N2206K |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,757,092 (GRCm39) |
Q351R |
probably null |
Het |
| Samd4 |
T |
C |
14: 47,311,585 (GRCm39) |
F81S |
probably damaging |
Het |
| Sh3pxd2b |
T |
C |
11: 32,373,559 (GRCm39) |
*909Q |
probably null |
Het |
| Slc25a45 |
A |
G |
19: 5,934,550 (GRCm39) |
R173G |
probably damaging |
Het |
| Smarca1 |
G |
A |
X: 46,938,840 (GRCm39) |
Q723* |
probably null |
Het |
| Smoc1 |
T |
C |
12: 81,151,445 (GRCm39) |
I54T |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,607,463 (GRCm39) |
R1319S |
probably damaging |
Het |
| Steap3 |
T |
G |
1: 120,169,464 (GRCm39) |
I240L |
probably benign |
Het |
| Stmn4 |
C |
T |
14: 66,593,058 (GRCm39) |
L13F |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
| Syt3 |
T |
C |
7: 44,039,940 (GRCm39) |
S58P |
possibly damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,139 (GRCm39) |
F176L |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,695 (GRCm39) |
C35S |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,570,486 (GRCm39) |
E422G |
possibly damaging |
Het |
| Tekt4 |
T |
A |
17: 25,690,832 (GRCm39) |
F46Y |
possibly damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,883,937 (GRCm39) |
K148E |
probably benign |
Het |
| Trrap |
T |
G |
5: 144,752,863 (GRCm39) |
I1813R |
probably damaging |
Het |
| Ttc29 |
A |
G |
8: 78,978,361 (GRCm39) |
E137G |
probably benign |
Het |
| Tubgcp6 |
C |
A |
15: 89,000,444 (GRCm39) |
R307L |
possibly damaging |
Het |
| Tyro3 |
T |
C |
2: 119,632,176 (GRCm39) |
I81T |
possibly damaging |
Het |
| Upp2 |
T |
G |
2: 58,661,464 (GRCm39) |
M71R |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,588,888 (GRCm39) |
T2427K |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,032,767 (GRCm39) |
L122Q |
probably damaging |
Het |
| Vmn1r213 |
A |
C |
13: 23,196,476 (GRCm39) |
N353T |
possibly damaging |
Het |
| Vwa5b2 |
G |
T |
16: 20,423,582 (GRCm39) |
S1165I |
possibly damaging |
Het |
| Zfp869 |
T |
C |
8: 70,160,088 (GRCm39) |
K162E |
probably benign |
Het |
|
| Other mutations in Itgb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01360:Itgb4
|
APN |
11 |
115,881,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01391:Itgb4
|
APN |
11 |
115,881,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01431:Itgb4
|
APN |
11 |
115,897,283 (GRCm39) |
splice site |
probably benign |
|
|
IGL01750:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01752:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01756:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01766:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01769:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02188:Itgb4
|
APN |
11 |
115,894,213 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02262:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02293:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02318:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02319:Itgb4
|
APN |
11 |
115,879,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02338:Itgb4
|
APN |
11 |
115,898,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02734:Itgb4
|
APN |
11 |
115,896,792 (GRCm39) |
missense |
probably benign |
|
|
IGL02879:Itgb4
|
APN |
11 |
115,885,178 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02889:Itgb4
|
APN |
11 |
115,879,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03183:Itgb4
|
APN |
11 |
115,879,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Itgb4
|
UTSW |
11 |
115,891,166 (GRCm39) |
nonsense |
probably null |
|
|
R0021:Itgb4
|
UTSW |
11 |
115,870,453 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0092:Itgb4
|
UTSW |
11 |
115,869,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Itgb4
|
UTSW |
11 |
115,870,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Itgb4
|
UTSW |
11 |
115,898,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0465:Itgb4
|
UTSW |
11 |
115,870,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Itgb4
|
UTSW |
11 |
115,870,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0535:Itgb4
|
UTSW |
11 |
115,881,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0571:Itgb4
|
UTSW |
11 |
115,870,594 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0613:Itgb4
|
UTSW |
11 |
115,884,168 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0838:Itgb4
|
UTSW |
11 |
115,888,988 (GRCm39) |
intron |
probably benign |
|
|
R1381:Itgb4
|
UTSW |
11 |
115,885,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1451:Itgb4
|
UTSW |
11 |
115,881,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Itgb4
|
UTSW |
11 |
115,869,937 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1460:Itgb4
|
UTSW |
11 |
115,874,990 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1473:Itgb4
|
UTSW |
11 |
115,874,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1484:Itgb4
|
UTSW |
11 |
115,890,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1593:Itgb4
|
UTSW |
11 |
115,871,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Itgb4
|
UTSW |
11 |
115,882,142 (GRCm39) |
nonsense |
probably null |
|
|
R1633:Itgb4
|
UTSW |
11 |
115,898,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Itgb4
|
UTSW |
11 |
115,898,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Itgb4
|
UTSW |
11 |
115,882,156 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1713:Itgb4
|
UTSW |
11 |
115,894,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1732:Itgb4
|
UTSW |
11 |
115,879,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Itgb4
|
UTSW |
11 |
115,879,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Itgb4
|
UTSW |
11 |
115,874,590 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1945:Itgb4
|
UTSW |
11 |
115,884,279 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Itgb4
|
UTSW |
11 |
115,896,561 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2184:Itgb4
|
UTSW |
11 |
115,870,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2334:Itgb4
|
UTSW |
11 |
115,884,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2401:Itgb4
|
UTSW |
11 |
115,897,389 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R3743:Itgb4
|
UTSW |
11 |
115,894,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Itgb4
|
UTSW |
11 |
115,896,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4134:Itgb4
|
UTSW |
11 |
115,897,296 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4280:Itgb4
|
UTSW |
11 |
115,881,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Itgb4
|
UTSW |
11 |
115,879,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4434:Itgb4
|
UTSW |
11 |
115,890,640 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4505:Itgb4
|
UTSW |
11 |
115,874,087 (GRCm39) |
splice site |
silent |
|
|
R4585:Itgb4
|
UTSW |
11 |
115,884,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4586:Itgb4
|
UTSW |
11 |
115,884,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4601:Itgb4
|
UTSW |
11 |
115,896,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Itgb4
|
UTSW |
11 |
115,897,431 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4962:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5027:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5029:Itgb4
|
UTSW |
11 |
115,879,417 (GRCm39) |
intron |
probably benign |
|
|
R5084:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5085:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5124:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5125:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5150:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5175:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5176:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5179:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5207:Itgb4
|
UTSW |
11 |
115,897,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5334:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5337:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5344:Itgb4
|
UTSW |
11 |
115,880,575 (GRCm39) |
missense |
probably null |
0.92 |
|
R5391:Itgb4
|
UTSW |
11 |
115,875,894 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5437:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5440:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5653:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5654:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5655:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5772:Itgb4
|
UTSW |
11 |
115,879,258 (GRCm39) |
intron |
probably benign |
|
|
R5812:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5813:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5814:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5863:Itgb4
|
UTSW |
11 |
115,881,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5864:Itgb4
|
UTSW |
11 |
115,881,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5865:Itgb4
|
UTSW |
11 |
115,881,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5951:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5954:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5982:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6043:Itgb4
|
UTSW |
11 |
115,870,212 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6133:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6134:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6135:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6169:Itgb4
|
UTSW |
11 |
115,885,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6172:Itgb4
|
UTSW |
11 |
115,891,237 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6255:Itgb4
|
UTSW |
11 |
115,888,963 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6258:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6259:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Itgb4
|
UTSW |
11 |
115,874,983 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6612:Itgb4
|
UTSW |
11 |
115,874,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7037:Itgb4
|
UTSW |
11 |
115,896,391 (GRCm39) |
nonsense |
probably null |
|
|
R7371:Itgb4
|
UTSW |
11 |
115,888,906 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7605:Itgb4
|
UTSW |
11 |
115,897,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7659:Itgb4
|
UTSW |
11 |
115,870,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Itgb4
|
UTSW |
11 |
115,894,536 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7804:Itgb4
|
UTSW |
11 |
115,894,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7832:Itgb4
|
UTSW |
11 |
115,891,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Itgb4
|
UTSW |
11 |
115,873,531 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7923:Itgb4
|
UTSW |
11 |
115,873,525 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8004:Itgb4
|
UTSW |
11 |
115,873,531 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8143:Itgb4
|
UTSW |
11 |
115,884,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Itgb4
|
UTSW |
11 |
115,882,544 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8857:Itgb4
|
UTSW |
11 |
115,871,853 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8863:Itgb4
|
UTSW |
11 |
115,875,898 (GRCm39) |
nonsense |
probably null |
|
|
R8932:Itgb4
|
UTSW |
11 |
115,879,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9153:Itgb4
|
UTSW |
11 |
115,874,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9207:Itgb4
|
UTSW |
11 |
115,897,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Itgb4
|
UTSW |
11 |
115,898,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Itgb4
|
UTSW |
11 |
115,870,465 (GRCm39) |
missense |
probably benign |
|
|
R9289:Itgb4
|
UTSW |
11 |
115,885,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Itgb4
|
UTSW |
11 |
115,880,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9435:Itgb4
|
UTSW |
11 |
115,895,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9450:Itgb4
|
UTSW |
11 |
115,874,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9649:Itgb4
|
UTSW |
11 |
115,885,171 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9779:Itgb4
|
UTSW |
11 |
115,882,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Itgb4
|
UTSW |
11 |
115,884,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Itgb4
|
UTSW |
11 |
115,897,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Itgb4
|
UTSW |
11 |
115,888,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Itgb4
|
UTSW |
11 |
115,877,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTACACGAGGTCACCTTTGC -3'
(R):5'- AAGCTGATAACGTTCTTGAAGGAG -3'
Sequencing Primer
(F):5'- ACGAGGTCACCTTTGCTAGCTTC -3'
(R):5'- TCCTTCAGTCTGGGCAGAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation