Incidental Mutation 'R8900:Itga4'
| ID |
679883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
068757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8900 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79145332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 716
(I716K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099972
AA Change: I716K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: I716K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Int_alpha
|
48 |
108 |
5.14e-7 |
SMART |
|
Int_alpha
|
191 |
241 |
3.45e1 |
SMART |
|
Int_alpha
|
247 |
300 |
1.89e-5 |
SMART |
|
Int_alpha
|
302 |
358 |
2.25e-12 |
SMART |
|
Int_alpha
|
364 |
419 |
1.45e-15 |
SMART |
|
Int_alpha
|
426 |
483 |
4.52e-3 |
SMART |
|
SCOP:d1m1xa2
|
627 |
770 |
1e-35 |
SMART |
|
Blast:Int_alpha
|
639 |
676 |
9e-16 |
BLAST |
|
SCOP:d1m1xa3
|
773 |
948 |
7e-42 |
SMART |
|
transmembrane domain
|
978 |
1000 |
N/A |
INTRINSIC |
|
PDB:4HKC|B
|
1003 |
1032 |
1e-13 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohn's disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit embryonic lethality either due to failure of chorioallantoic fusion or cardiac abnormalities, including hemorrhage around the heart and defects in epicardium formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,045,218 (GRCm39) |
T372A |
probably benign |
Het |
| Adamts8 |
C |
A |
9: 30,865,930 (GRCm39) |
R493S |
probably benign |
Het |
| Ankrd33b |
G |
A |
15: 31,297,830 (GRCm39) |
T309I |
probably damaging |
Het |
| Arhgap22 |
G |
A |
14: 32,993,880 (GRCm39) |
W58* |
probably null |
Het |
| B4galt4 |
C |
T |
16: 38,572,404 (GRCm39) |
|
probably benign |
Het |
| Bcl2a1a |
A |
T |
9: 88,839,311 (GRCm39) |
I70L |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,977,942 (GRCm39) |
D97G |
possibly damaging |
Het |
| Cand2 |
C |
T |
6: 115,757,894 (GRCm39) |
T52M |
probably benign |
Het |
| Cd101 |
C |
A |
3: 100,926,062 (GRCm39) |
R219L |
probably benign |
Het |
| Cd5l |
T |
A |
3: 87,274,882 (GRCm39) |
D140E |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,904,197 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,906 (GRCm39) |
M355V |
possibly damaging |
Het |
| Cfap74 |
G |
A |
4: 155,521,187 (GRCm39) |
E620K |
|
Het |
| Clec4a4 |
A |
G |
6: 123,000,875 (GRCm39) |
E196G |
probably damaging |
Het |
| Cpxm1 |
T |
A |
2: 130,235,360 (GRCm39) |
D544V |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,447,245 (GRCm39) |
D535E |
probably benign |
Het |
| Daw1 |
T |
G |
1: 83,175,898 (GRCm39) |
L212R |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,135,445 (GRCm39) |
T443S |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,817,940 (GRCm39) |
D1627G |
probably damaging |
Het |
| Dohh |
A |
G |
10: 81,223,735 (GRCm39) |
I263V |
probably benign |
Het |
| Dsp |
G |
A |
13: 38,365,155 (GRCm39) |
V513M |
probably damaging |
Het |
| Dus4l |
G |
T |
12: 31,690,692 (GRCm39) |
L320I |
possibly damaging |
Het |
| Edc4 |
A |
C |
8: 106,617,857 (GRCm39) |
Q1139P |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,549,228 (GRCm39) |
C213* |
probably null |
Het |
| Fgf14 |
A |
T |
14: 124,221,326 (GRCm39) |
Y159* |
probably null |
Het |
| Gm45861 |
A |
T |
8: 28,019,632 (GRCm39) |
D749V |
unknown |
Het |
| Hip1 |
T |
C |
5: 135,459,144 (GRCm39) |
T203A |
probably benign |
Het |
| Igfals |
A |
G |
17: 25,099,014 (GRCm39) |
D35G |
possibly damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
| Ndufb3 |
T |
C |
1: 58,634,824 (GRCm39) |
Y59H |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,665,023 (GRCm39) |
H399R |
probably damaging |
Het |
| Nxph1 |
T |
C |
6: 9,247,601 (GRCm39) |
S191P |
probably damaging |
Het |
| Or13c7e-ps1 |
G |
T |
4: 43,781,432 (GRCm39) |
S299R |
probably benign |
Het |
| Or1p1 |
T |
C |
11: 74,180,413 (GRCm39) |
S314P |
probably damaging |
Het |
| Pcdha11 |
T |
G |
18: 37,145,799 (GRCm39) |
I630S |
probably damaging |
Het |
| Pfkl |
C |
G |
10: 77,836,615 (GRCm39) |
G134A |
probably damaging |
Het |
| Phf19 |
A |
T |
2: 34,795,484 (GRCm39) |
C196S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,248,096 (GRCm39) |
K468R |
probably benign |
Het |
| Plekhn1 |
T |
C |
4: 156,310,078 (GRCm39) |
S79G |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,384 (GRCm39) |
Y190H |
possibly damaging |
Het |
| Ppp1r13b |
T |
A |
12: 111,838,778 (GRCm39) |
E33D |
probably damaging |
Het |
| Raly |
A |
T |
2: 154,705,493 (GRCm39) |
I174F |
probably damaging |
Het |
| Rint1 |
T |
C |
5: 24,016,882 (GRCm39) |
V549A |
possibly damaging |
Het |
| Rnf31 |
T |
G |
14: 55,833,689 (GRCm39) |
C566G |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,808,478 (GRCm39) |
W796* |
probably null |
Het |
| Sdc1 |
C |
T |
12: 8,840,460 (GRCm39) |
T79I |
possibly damaging |
Het |
| Sema6a |
T |
G |
18: 47,424,182 (GRCm39) |
E242A |
probably damaging |
Het |
| Slc22a30 |
A |
C |
19: 8,315,340 (GRCm39) |
M430R |
probably damaging |
Het |
| Sp9 |
C |
A |
2: 73,103,863 (GRCm39) |
T139K |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,040,327 (GRCm39) |
D29G |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,697,761 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
A |
T |
8: 48,689,437 (GRCm39) |
I2050N |
probably damaging |
Het |
| Tiparp |
T |
A |
3: 65,460,603 (GRCm39) |
F531I |
probably damaging |
Het |
| Tmem132b |
A |
T |
5: 125,855,884 (GRCm39) |
I539F |
probably damaging |
Het |
| Ttf2 |
T |
C |
3: 100,859,956 (GRCm39) |
D666G |
probably damaging |
Het |
| Vmn1r51 |
T |
C |
6: 90,106,842 (GRCm39) |
S253P |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,261,924 (GRCm39) |
I402T |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,511,619 (GRCm39) |
Y609H |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,575,863 (GRCm39) |
M245L |
probably benign |
Het |
| Vmn2r42 |
C |
T |
7: 8,197,792 (GRCm39) |
E276K |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,838,287 (GRCm39) |
N65K |
probably damaging |
Het |
| Zbtb47 |
A |
C |
9: 121,596,705 (GRCm39) |
K687T |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,463,924 (GRCm39) |
S1361P |
probably damaging |
Het |
| Zfp317 |
T |
A |
9: 19,558,708 (GRCm39) |
C396* |
probably null |
Het |
|
| Other mutations in Itga4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Itga4
|
APN |
2 |
79,122,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01317:Itga4
|
APN |
2 |
79,153,005 (GRCm39) |
nonsense |
probably null |
|
|
IGL01545:Itga4
|
APN |
2 |
79,146,314 (GRCm39) |
splice site |
probably benign |
|
|
IGL01570:Itga4
|
APN |
2 |
79,152,978 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01575:Itga4
|
APN |
2 |
79,118,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01837:Itga4
|
APN |
2 |
79,145,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01974:Itga4
|
APN |
2 |
79,103,471 (GRCm39) |
splice site |
probably benign |
|
|
IGL02087:Itga4
|
APN |
2 |
79,122,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02245:Itga4
|
APN |
2 |
79,150,903 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02492:Itga4
|
APN |
2 |
79,086,001 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02809:Itga4
|
APN |
2 |
79,110,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02998:Itga4
|
APN |
2 |
79,108,165 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03008:Itga4
|
APN |
2 |
79,155,982 (GRCm39) |
missense |
probably benign |
|
|
IGL03282:Itga4
|
APN |
2 |
79,155,938 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03285:Itga4
|
APN |
2 |
79,109,510 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03286:Itga4
|
APN |
2 |
79,119,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Itga4
|
UTSW |
2 |
79,156,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0045:Itga4
|
UTSW |
2 |
79,131,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Itga4
|
UTSW |
2 |
79,151,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0554:Itga4
|
UTSW |
2 |
79,109,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Itga4
|
UTSW |
2 |
79,155,983 (GRCm39) |
missense |
probably benign |
|
|
R0785:Itga4
|
UTSW |
2 |
79,119,649 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0787:Itga4
|
UTSW |
2 |
79,109,497 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1013:Itga4
|
UTSW |
2 |
79,150,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1237:Itga4
|
UTSW |
2 |
79,109,490 (GRCm39) |
missense |
probably null |
0.08 |
|
R1295:Itga4
|
UTSW |
2 |
79,153,033 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1471:Itga4
|
UTSW |
2 |
79,117,376 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1559:Itga4
|
UTSW |
2 |
79,146,032 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1769:Itga4
|
UTSW |
2 |
79,146,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1931:Itga4
|
UTSW |
2 |
79,144,188 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2012:Itga4
|
UTSW |
2 |
79,108,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2241:Itga4
|
UTSW |
2 |
79,131,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3793:Itga4
|
UTSW |
2 |
79,109,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4133:Itga4
|
UTSW |
2 |
79,152,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Itga4
|
UTSW |
2 |
79,109,505 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4296:Itga4
|
UTSW |
2 |
79,103,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Itga4
|
UTSW |
2 |
79,144,054 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4906:Itga4
|
UTSW |
2 |
79,118,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5048:Itga4
|
UTSW |
2 |
79,103,378 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5087:Itga4
|
UTSW |
2 |
79,145,973 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5212:Itga4
|
UTSW |
2 |
79,110,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5213:Itga4
|
UTSW |
2 |
79,150,920 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5421:Itga4
|
UTSW |
2 |
79,146,385 (GRCm39) |
nonsense |
probably null |
|
|
R5549:Itga4
|
UTSW |
2 |
79,086,611 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5907:Itga4
|
UTSW |
2 |
79,153,000 (GRCm39) |
missense |
probably benign |
|
|
R5917:Itga4
|
UTSW |
2 |
79,117,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Itga4
|
UTSW |
2 |
79,109,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Itga4
|
UTSW |
2 |
79,155,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6787:Itga4
|
UTSW |
2 |
79,119,609 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6790:Itga4
|
UTSW |
2 |
79,155,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7051:Itga4
|
UTSW |
2 |
79,148,470 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7311:Itga4
|
UTSW |
2 |
79,086,526 (GRCm39) |
missense |
probably benign |
|
|
R7520:Itga4
|
UTSW |
2 |
79,131,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Itga4
|
UTSW |
2 |
79,103,337 (GRCm39) |
missense |
probably benign |
|
|
R7636:Itga4
|
UTSW |
2 |
79,144,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7889:Itga4
|
UTSW |
2 |
79,146,389 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8123:Itga4
|
UTSW |
2 |
79,146,027 (GRCm39) |
missense |
probably benign |
|
|
R8284:Itga4
|
UTSW |
2 |
79,151,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8445:Itga4
|
UTSW |
2 |
79,112,125 (GRCm39) |
missense |
probably benign |
|
|
R8553:Itga4
|
UTSW |
2 |
79,131,405 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8696:Itga4
|
UTSW |
2 |
79,112,125 (GRCm39) |
missense |
probably benign |
|
|
R8922:Itga4
|
UTSW |
2 |
79,085,938 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R9359:Itga4
|
UTSW |
2 |
79,156,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9403:Itga4
|
UTSW |
2 |
79,156,004 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTATAATTCCCAGGCTAAGCAG -3'
(R):5'- AGGTTCTCTGCTCACTCCACAG -3'
Sequencing Primer
(F):5'- CCAGGCTAAGCAGAAAATTGTTTCC -3'
(R):5'- TCCACAGCTCCCTGCCAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation