Incidental Mutation 'R7573:Itga4'
ID |
586129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga4
|
Ensembl Gene |
ENSMUSG00000027009 |
Gene Name |
integrin alpha 4 |
Synonyms |
VLA-4 receptor, alpha 4 subunit |
MMRRC Submission |
045659-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7573 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79103337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 143
(T143A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099972
AA Change: T143A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099718 Gene: ENSMUSG00000027009 AA Change: T143A
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (80/81) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,366,917 (GRCm39) |
I49F |
|
Het |
1810055G02Rik |
T |
A |
19: 3,765,728 (GRCm39) |
M1K |
probably null |
Het |
Abcb1b |
G |
A |
5: 8,878,866 (GRCm39) |
C750Y |
possibly damaging |
Het |
Abi2 |
T |
A |
1: 60,509,867 (GRCm39) |
V412D |
probably benign |
Het |
Alk |
C |
T |
17: 72,207,787 (GRCm39) |
V983M |
probably damaging |
Het |
Alppl2 |
A |
T |
1: 87,015,953 (GRCm39) |
W266R |
possibly damaging |
Het |
Arhgef18 |
A |
G |
8: 3,434,918 (GRCm39) |
R188G |
probably damaging |
Het |
Atp2c2 |
A |
T |
8: 120,478,008 (GRCm39) |
D695V |
probably damaging |
Het |
B3gnt4 |
A |
T |
5: 123,648,718 (GRCm39) |
I28L |
probably benign |
Het |
C2cd3 |
A |
G |
7: 100,068,914 (GRCm39) |
D536G |
|
Het |
Cacna1c |
A |
G |
6: 118,581,406 (GRCm39) |
S1733P |
|
Het |
Cacna1e |
T |
C |
1: 154,601,911 (GRCm39) |
|
probably benign |
Het |
Capns1 |
A |
G |
7: 29,891,960 (GRCm39) |
F101L |
probably damaging |
Het |
Ccdc180 |
A |
G |
4: 45,922,015 (GRCm39) |
T1030A |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,159,329 (GRCm39) |
T2151A |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,953,220 (GRCm39) |
L1558Q |
probably damaging |
Het |
Cfap157 |
T |
C |
2: 32,667,520 (GRCm39) |
H521R |
probably benign |
Het |
Crygs |
T |
A |
16: 22,624,069 (GRCm39) |
*179C |
probably null |
Het |
Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,830,836 (GRCm39) |
T1686A |
probably benign |
Het |
Cutc |
T |
C |
19: 43,748,382 (GRCm39) |
V95A |
probably benign |
Het |
Cxcl3 |
A |
G |
5: 90,934,105 (GRCm39) |
T26A |
probably benign |
Het |
Dnah9 |
A |
G |
11: 66,016,041 (GRCm39) |
V400A |
probably benign |
Het |
Dysf |
A |
T |
6: 84,107,104 (GRCm39) |
N1139I |
possibly damaging |
Het |
Fam136a |
G |
A |
6: 86,343,667 (GRCm39) |
E55K |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,600,502 (GRCm39) |
D179G |
probably damaging |
Het |
Fam178b |
T |
C |
1: 36,671,533 (GRCm39) |
D196G |
probably damaging |
Het |
Fut9 |
A |
T |
4: 25,620,691 (GRCm39) |
M41K |
probably benign |
Het |
Gm9195 |
T |
C |
14: 72,694,122 (GRCm39) |
Q1531R |
probably null |
Het |
Gpr6 |
A |
T |
10: 40,946,868 (GRCm39) |
V238D |
probably damaging |
Het |
Hoxa2 |
A |
T |
6: 52,140,283 (GRCm39) |
S234R |
probably benign |
Het |
Kcnq2 |
A |
G |
2: 180,723,382 (GRCm39) |
S693P |
probably benign |
Het |
Kif13b |
A |
G |
14: 65,041,107 (GRCm39) |
I1732V |
probably benign |
Het |
Klhl14 |
A |
G |
18: 21,785,211 (GRCm39) |
V72A |
probably benign |
Het |
Krt1c |
T |
A |
15: 101,722,954 (GRCm39) |
D348V |
probably benign |
Het |
Map4k2 |
A |
T |
19: 6,394,094 (GRCm39) |
E300D |
probably benign |
Het |
Mars1 |
A |
G |
10: 127,138,679 (GRCm39) |
|
probably null |
Het |
Mpo |
A |
G |
11: 87,688,403 (GRCm39) |
D354G |
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,847,778 (GRCm39) |
T174A |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,172,450 (GRCm39) |
C1183Y |
probably damaging |
Het |
Nfkb2 |
C |
A |
19: 46,297,082 (GRCm39) |
Q336K |
possibly damaging |
Het |
Nlrp2 |
A |
G |
7: 5,320,468 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
T |
C |
7: 19,753,125 (GRCm39) |
L10P |
probably damaging |
Het |
Nrip2 |
A |
G |
6: 128,377,232 (GRCm39) |
S53G |
probably benign |
Het |
Or13a22 |
G |
A |
7: 140,072,912 (GRCm39) |
M120I |
probably damaging |
Het |
Or4k36 |
T |
C |
2: 111,146,277 (GRCm39) |
I151T |
probably benign |
Het |
Or52a5b |
A |
G |
7: 103,416,677 (GRCm39) |
M309T |
probably benign |
Het |
Or52z13 |
C |
T |
7: 103,246,735 (GRCm39) |
L71F |
probably benign |
Het |
Or8b54 |
A |
T |
9: 38,686,791 (GRCm39) |
K80I |
probably damaging |
Het |
Or8g18 |
C |
T |
9: 39,148,977 (GRCm39) |
V248I |
probably benign |
Het |
Pak5 |
A |
G |
2: 135,958,225 (GRCm39) |
S288P |
probably damaging |
Het |
Pjvk |
T |
C |
2: 76,487,809 (GRCm39) |
F234L |
probably benign |
Het |
Plekhm2 |
T |
C |
4: 141,358,658 (GRCm39) |
N616D |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,506,852 (GRCm39) |
R9C |
probably damaging |
Het |
Prom1 |
A |
G |
5: 44,213,272 (GRCm39) |
C154R |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 185,014,579 (GRCm39) |
W1243R |
probably benign |
Het |
Rad17 |
C |
T |
13: 100,765,974 (GRCm39) |
A385T |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,349,310 (GRCm39) |
C3804R |
|
Het |
Ros1 |
T |
A |
10: 52,046,072 (GRCm39) |
T153S |
probably benign |
Het |
Sema4g |
T |
C |
19: 44,986,010 (GRCm39) |
S284P |
probably damaging |
Het |
Septin9 |
C |
T |
11: 117,090,571 (GRCm39) |
|
probably benign |
Het |
Slc2a9 |
T |
C |
5: 38,574,569 (GRCm39) |
S236G |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,398,256 (GRCm39) |
F674L |
probably benign |
Het |
Slfn5 |
A |
T |
11: 82,849,585 (GRCm39) |
K361N |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,929,052 (GRCm39) |
L88S |
unknown |
Het |
Smarca4 |
T |
A |
9: 21,550,371 (GRCm39) |
|
probably null |
Het |
Smg7 |
A |
T |
1: 152,735,240 (GRCm39) |
N198K |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,141,234 (GRCm39) |
Q1166* |
probably null |
Het |
Stap1 |
A |
G |
5: 86,238,854 (GRCm39) |
N212S |
possibly damaging |
Het |
Tbx2 |
C |
G |
11: 85,724,138 (GRCm39) |
A69G |
possibly damaging |
Het |
Tmc1 |
C |
A |
19: 20,884,372 (GRCm39) |
D23Y |
probably damaging |
Het |
Tmf1 |
A |
T |
6: 97,135,455 (GRCm39) |
D940E |
probably benign |
Het |
Trim27 |
T |
A |
13: 21,364,770 (GRCm39) |
C36S |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,560,696 (GRCm39) |
G808D |
probably damaging |
Het |
Usp17ld |
G |
T |
7: 102,900,094 (GRCm39) |
Y279* |
probably null |
Het |
Usp40 |
G |
A |
1: 87,913,794 (GRCm39) |
A433V |
probably benign |
Het |
Vmn1r49 |
G |
A |
6: 90,049,843 (GRCm39) |
A53V |
probably benign |
Het |
Vmn1r84 |
T |
C |
7: 12,095,787 (GRCm39) |
N302S |
probably benign |
Het |
Wfdc2 |
A |
T |
2: 164,407,741 (GRCm39) |
I137L |
probably benign |
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 |
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 |
|
R8900:Itga4
|
UTSW |
2 |
79,145,332 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AAATACTGCAGGTAGCCCCAG -3'
(R):5'- GAGTGGACTCCTTCCTTTGC -3'
Sequencing Primer
(F):5'- CCTTGTGGGAAGACATGCCTG -3'
(R):5'- GCTTCTCTTCCTCTAGTTCGGTCAAG -3'
|
Posted On |
2019-10-24 |