Incidental Mutation 'R5416:Itgb7'
| ID |
427760 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb7
|
| Ensembl Gene |
ENSMUSG00000001281 |
| Gene Name |
integrin beta 7 |
| Synonyms |
|
| MMRRC Submission |
042985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R5416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102124430-102140379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102125744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 628
(D628E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001327
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001327]
[ENSMUST00000118729]
[ENSMUST00000119168]
[ENSMUST00000119800]
[ENSMUST00000141465]
[ENSMUST00000230867]
|
| AlphaFold |
P26011 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001327
AA Change: D628E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000001327
Gene: ENSMUSG00000001281
AA Change: D628E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
PSI
|
44 |
92 |
6.35e-6 |
SMART |
|
INB
|
50 |
476 |
2.82e-273 |
SMART |
|
VWA
|
151 |
383 |
7.52e-2 |
SMART |
|
low complexity region
|
537 |
557 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
605 |
635 |
2.6e-7 |
PFAM |
|
Integrin_B_tail
|
645 |
721 |
4.22e-18 |
SMART |
|
low complexity region
|
732 |
744 |
N/A |
INTRINSIC |
|
Integrin_b_cyt
|
746 |
792 |
7.82e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118729
|
| SMART Domains |
Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
53 |
62 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
76 |
98 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
104 |
126 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
132 |
152 |
4.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119800
|
| SMART Domains |
Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
74 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
88 |
110 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
116 |
138 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
144 |
164 |
4.99e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119830
|
| SMART Domains |
Protein: ENSMUSP00000113281
Gene: ENSMUSG00000046897
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
25 |
47 |
3.07e-1 |
SMART |
|
ZnF_C2H2
|
53 |
75 |
1.69e-3 |
SMART |
|
ZnF_C2H2
|
81 |
101 |
4.99e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230550
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms dimers with an alpha4 chain or an alphaE chain and plays a role in leukocyte adhesion. Dimerization with alpha4 forms a homing receptor for migration of lymphocytes to the intestinal mucosa and Peyer's patches. Dimerization with alphaE permits binding to the ligand epithelial cadherin, a calcium-dependent adhesion molecule. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Homozygous null mice display hypoplasia of gut-associated lymph tissue due to defects in lymphocyte migration [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,871,331 (GRCm39) |
E689D |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,997 (GRCm39) |
E339G |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,259,308 (GRCm39) |
E861K |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,817,930 (GRCm39) |
T394I |
probably benign |
Het |
| Adsl |
T |
A |
15: 80,836,384 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,551 (GRCm39) |
C1854S |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,442,832 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,341,525 (GRCm39) |
D1161G |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,809 (GRCm39) |
Y90C |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,100 (GRCm39) |
R510G |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,141,211 (GRCm39) |
T115A |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,367,741 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,020,786 (GRCm39) |
R386* |
probably null |
Het |
| Ctsj |
G |
T |
13: 61,152,337 (GRCm39) |
L10M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,517 (GRCm39) |
D302G |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,243,131 (GRCm39) |
F166L |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,805 (GRCm39) |
M248K |
probably damaging |
Het |
| Evpl |
C |
A |
11: 116,125,085 (GRCm39) |
V126L |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,552 (GRCm39) |
C414R |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,514 (GRCm39) |
N1175S |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,646,113 (GRCm39) |
T283I |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,650,291 (GRCm39) |
T121A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,925,079 (GRCm39) |
S175T |
unknown |
Het |
| Gpr107 |
T |
A |
2: 31,075,560 (GRCm39) |
I357N |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,149,030 (GRCm39) |
H466Q |
probably benign |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,466 (GRCm39) |
F327L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,322 (GRCm39) |
D236G |
possibly damaging |
Het |
| Or56b2j |
C |
T |
7: 104,352,923 (GRCm39) |
L50F |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,534,166 (GRCm39) |
Y260F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,008 (GRCm39) |
Y562C |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,182,107 (GRCm39) |
H376R |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,673,416 (GRCm39) |
T1018I |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,747 (GRCm39) |
D532E |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,623,814 (GRCm39) |
L3259P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,091,326 (GRCm39) |
D641E |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,216,525 (GRCm39) |
T105A |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,742,724 (GRCm39) |
T473A |
probably damaging |
Het |
| Pwp2 |
G |
T |
10: 78,018,835 (GRCm39) |
N57K |
probably damaging |
Het |
| Rnf216 |
G |
T |
5: 143,001,526 (GRCm39) |
C733* |
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,660,203 (GRCm39) |
K26N |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,561,058 (GRCm39) |
C448S |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,724,607 (GRCm39) |
L216M |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,365,433 (GRCm39) |
S117P |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,913,932 (GRCm39) |
C1332* |
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,735 (GRCm39) |
V497A |
probably benign |
Het |
| Tmem204 |
T |
C |
17: 25,277,300 (GRCm39) |
E195G |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,037,849 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
G |
A |
12: 86,059,602 (GRCm39) |
V1250M |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,852,476 (GRCm39) |
T681I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,879 (GRCm39) |
V404I |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,030,319 (GRCm39) |
S919P |
probably benign |
Het |
| Zfp575 |
C |
T |
7: 24,286,147 (GRCm39) |
G3D |
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,766,294 (GRCm39) |
|
silent |
Het |
|
| Other mutations in Itgb7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Itgb7
|
APN |
15 |
102,136,020 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01574:Itgb7
|
APN |
15 |
102,135,975 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01814:Itgb7
|
APN |
15 |
102,131,852 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01875:Itgb7
|
APN |
15 |
102,126,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01996:Itgb7
|
APN |
15 |
102,126,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02320:Itgb7
|
APN |
15 |
102,132,772 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02541:Itgb7
|
APN |
15 |
102,131,892 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02547:Itgb7
|
APN |
15 |
102,126,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Itgb7
|
UTSW |
15 |
102,131,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0108:Itgb7
|
UTSW |
15 |
102,131,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0195:Itgb7
|
UTSW |
15 |
102,130,618 (GRCm39) |
unclassified |
probably benign |
|
|
R1033:Itgb7
|
UTSW |
15 |
102,131,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Itgb7
|
UTSW |
15 |
102,131,911 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1999:Itgb7
|
UTSW |
15 |
102,130,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Itgb7
|
UTSW |
15 |
102,130,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2331:Itgb7
|
UTSW |
15 |
102,131,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Itgb7
|
UTSW |
15 |
102,131,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4758:Itgb7
|
UTSW |
15 |
102,124,642 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4779:Itgb7
|
UTSW |
15 |
102,132,848 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5134:Itgb7
|
UTSW |
15 |
102,125,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5158:Itgb7
|
UTSW |
15 |
102,125,464 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5323:Itgb7
|
UTSW |
15 |
102,140,059 (GRCm39) |
intron |
probably benign |
|
|
R5652:Itgb7
|
UTSW |
15 |
102,124,638 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6089:Itgb7
|
UTSW |
15 |
102,125,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6144:Itgb7
|
UTSW |
15 |
102,131,917 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6384:Itgb7
|
UTSW |
15 |
102,132,886 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6475:Itgb7
|
UTSW |
15 |
102,124,701 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6754:Itgb7
|
UTSW |
15 |
102,124,595 (GRCm39) |
makesense |
probably null |
|
|
R6857:Itgb7
|
UTSW |
15 |
102,131,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Itgb7
|
UTSW |
15 |
102,127,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Itgb7
|
UTSW |
15 |
102,125,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8014:Itgb7
|
UTSW |
15 |
102,131,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Itgb7
|
UTSW |
15 |
102,127,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Itgb7
|
UTSW |
15 |
102,124,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8962:Itgb7
|
UTSW |
15 |
102,127,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Itgb7
|
UTSW |
15 |
102,126,359 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9074:Itgb7
|
UTSW |
15 |
102,132,797 (GRCm39) |
missense |
|
|
|
R9105:Itgb7
|
UTSW |
15 |
102,135,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Itgb7
|
UTSW |
15 |
102,131,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Itgb7
|
UTSW |
15 |
102,135,831 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9467:Itgb7
|
UTSW |
15 |
102,131,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGATTCACATCTGGGCAG -3'
(R):5'- CATACTGTGCCAACTGTGTG -3'
Sequencing Primer
(F):5'- ACATCTGGGCAGCTGTTAC -3'
(R):5'- GCCAACTGTGTGTGAGAATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation