Incidental Mutation 'PIT4812001:Itgb5'
| ID |
556943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb5
|
| Ensembl Gene |
ENSMUSG00000022817 |
| Gene Name |
integrin beta 5 |
| Synonyms |
beta5, [b]5B, [b]5, ESTM23, [b]-5, [b]5A, beta-5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4812001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
33650035-33769708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33740357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 489
(C489F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069345]
[ENSMUST00000115028]
[ENSMUST00000232262]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069345
AA Change: C489F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069416
Gene: ENSMUSG00000022817
AA Change: C489F
| Domain | Start | End | E-Value | Type |
|---|
|
PSI
|
27 |
76 |
1.4e-7 |
SMART |
|
INB
|
35 |
463 |
1.18e-284 |
SMART |
|
VWA
|
137 |
372 |
5.95e-7 |
SMART |
|
internal_repeat_1
|
492 |
549 |
3.16e-7 |
PROSPERO |
|
EGF
|
554 |
586 |
1.95e1 |
SMART |
|
Integrin_B_tail
|
635 |
719 |
1.56e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115028
AA Change: C489F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110680
Gene: ENSMUSG00000022817
AA Change: C489F
| Domain | Start | End | E-Value | Type |
|---|
|
PSI
|
27 |
76 |
1.4e-7 |
SMART |
|
INB
|
35 |
463 |
1.18e-284 |
SMART |
|
VWA
|
137 |
372 |
5.95e-7 |
SMART |
|
internal_repeat_1
|
492 |
549 |
3.16e-7 |
PROSPERO |
|
EGF
|
554 |
586 |
1.95e1 |
SMART |
|
Integrin_B_tail
|
635 |
719 |
1.56e-21 |
SMART |
|
Integrin_b_cyt
|
743 |
790 |
5.97e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232262
AA Change: C176F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation do not appear to differ from normal in respect to development, reproduction, adenovirus infection, or wound healing. Mutant keratinocytes do show reduced migration on, and adhesion to, vitronectin in vitro. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
| 4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
| Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,720,055 (GRCm39) |
I1082V |
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
| Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
| Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,962,311 (GRCm39) |
E652K |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
| Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
| Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
| Gria4 |
C |
A |
9: 4,427,128 (GRCm39) |
A771S |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
| Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
| Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
| Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,856,504 (GRCm39) |
V436M |
probably damaging |
Het |
| Mia2 |
A |
T |
12: 59,148,365 (GRCm39) |
D75V |
possibly damaging |
Het |
| Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
| Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
| Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
| Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
| Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
| Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
| Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
| Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
| Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
| Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
| Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
| Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
| Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
probably damaging |
Het |
|
| Other mutations in Itgb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Itgb5
|
APN |
16 |
33,705,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01121:Itgb5
|
APN |
16 |
33,740,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01620:Itgb5
|
APN |
16 |
33,740,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02332:Itgb5
|
APN |
16 |
33,740,500 (GRCm39) |
nonsense |
probably null |
|
|
IGL02869:Itgb5
|
APN |
16 |
33,665,362 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02881:Itgb5
|
APN |
16 |
33,740,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02941:Itgb5
|
APN |
16 |
33,764,465 (GRCm39) |
splice site |
probably benign |
|
|
IGL03216:Itgb5
|
APN |
16 |
33,723,208 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL03351:Itgb5
|
APN |
16 |
33,730,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0744:Itgb5
|
UTSW |
16 |
33,720,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0829:Itgb5
|
UTSW |
16 |
33,764,571 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0836:Itgb5
|
UTSW |
16 |
33,720,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1387:Itgb5
|
UTSW |
16 |
33,720,885 (GRCm39) |
nonsense |
probably null |
|
|
R1703:Itgb5
|
UTSW |
16 |
33,730,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1783:Itgb5
|
UTSW |
16 |
33,760,932 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1826:Itgb5
|
UTSW |
16 |
33,685,930 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1889:Itgb5
|
UTSW |
16 |
33,730,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Itgb5
|
UTSW |
16 |
33,740,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4307:Itgb5
|
UTSW |
16 |
33,769,102 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4355:Itgb5
|
UTSW |
16 |
33,665,367 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4796:Itgb5
|
UTSW |
16 |
33,705,391 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4879:Itgb5
|
UTSW |
16 |
33,696,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Itgb5
|
UTSW |
16 |
33,719,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6584:Itgb5
|
UTSW |
16 |
33,705,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Itgb5
|
UTSW |
16 |
33,766,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6748:Itgb5
|
UTSW |
16 |
33,719,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6979:Itgb5
|
UTSW |
16 |
33,740,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7090:Itgb5
|
UTSW |
16 |
33,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7150:Itgb5
|
UTSW |
16 |
33,761,013 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7403:Itgb5
|
UTSW |
16 |
33,723,163 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7418:Itgb5
|
UTSW |
16 |
33,705,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Itgb5
|
UTSW |
16 |
33,740,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8309:Itgb5
|
UTSW |
16 |
33,685,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8347:Itgb5
|
UTSW |
16 |
33,761,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Itgb5
|
UTSW |
16 |
33,720,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Itgb5
|
UTSW |
16 |
33,740,551 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9194:Itgb5
|
UTSW |
16 |
33,720,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9309:Itgb5
|
UTSW |
16 |
33,740,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9343:Itgb5
|
UTSW |
16 |
33,730,826 (GRCm39) |
splice site |
probably benign |
|
|
R9629:Itgb5
|
UTSW |
16 |
33,696,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Itgb5
|
UTSW |
16 |
33,740,335 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9710:Itgb5
|
UTSW |
16 |
33,685,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Itgb5
|
UTSW |
16 |
33,665,420 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCCTTTGAAGTGTCCG -3'
(R):5'- AGGAAAAGCTGTCACACTCG -3'
Sequencing Primer
(F):5'- CATCCTTTGAAGTGTCCGTGGAG -3'
(R):5'- GCAGAAAGGTCCGTAGATCCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation