Incidental Mutation 'IGL01317:Itga4'
| ID |
73904 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01317
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 79153005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 897
(C897*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099972
AA Change: C897*
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: C897*
| 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 |
|
| Validation Efficiency |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,362,597 (GRCm39) |
D609E |
probably damaging |
Het |
| Aldh3b1 |
T |
C |
19: 3,968,104 (GRCm39) |
I352V |
probably benign |
Het |
| Apeh |
A |
T |
9: 107,963,406 (GRCm39) |
S605R |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,260 (GRCm39) |
K748E |
probably benign |
Het |
| Avpr1a |
T |
C |
10: 122,285,472 (GRCm39) |
S255P |
probably benign |
Het |
| Cadps2 |
T |
A |
6: 23,314,172 (GRCm39) |
D1124V |
possibly damaging |
Het |
| Cask |
C |
T |
X: 13,388,499 (GRCm39) |
E83K |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,078 (GRCm39) |
Y670C |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,244,037 (GRCm39) |
Y1343H |
probably damaging |
Het |
| Cit |
T |
A |
5: 116,046,775 (GRCm39) |
V396D |
probably benign |
Het |
| Cldn18 |
T |
C |
9: 99,578,135 (GRCm39) |
T203A |
probably benign |
Het |
| Dido1 |
A |
C |
2: 180,313,550 (GRCm39) |
N907K |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,642,921 (GRCm39) |
D246E |
probably damaging |
Het |
| Dph1 |
T |
C |
11: 75,071,486 (GRCm39) |
H303R |
probably benign |
Het |
| Dspp |
T |
A |
5: 104,321,914 (GRCm39) |
Y8N |
probably damaging |
Het |
| Efhc2 |
C |
T |
X: 17,071,198 (GRCm39) |
|
probably benign |
Het |
| Fam171a1 |
T |
A |
2: 3,203,663 (GRCm39) |
V215E |
probably damaging |
Het |
| Fhip1a |
T |
C |
3: 85,580,153 (GRCm39) |
D684G |
probably benign |
Het |
| Foxm1 |
T |
A |
6: 128,344,316 (GRCm39) |
M22K |
probably damaging |
Het |
| Gdpd4 |
A |
C |
7: 97,647,465 (GRCm39) |
M371L |
possibly damaging |
Het |
| Hdac9 |
T |
C |
12: 34,479,488 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,413,908 (GRCm39) |
W162R |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,053,078 (GRCm39) |
D250V |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,944,790 (GRCm39) |
A504S |
possibly damaging |
Het |
| Kcnd2 |
T |
C |
6: 21,727,339 (GRCm39) |
*631Q |
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,693,694 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,125,696 (GRCm39) |
E2951V |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,845,455 (GRCm39) |
Q1944R |
probably benign |
Het |
| Mmp14 |
A |
G |
14: 54,673,247 (GRCm39) |
T52A |
possibly damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,372 (GRCm39) |
N102K |
probably benign |
Het |
| Mrpl28 |
G |
A |
17: 26,344,489 (GRCm39) |
G205D |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,493,230 (GRCm39) |
|
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,921,837 (GRCm39) |
N249S |
probably benign |
Het |
| Or4f57 |
T |
A |
2: 111,790,620 (GRCm39) |
H266L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,170,131 (GRCm39) |
V882E |
possibly damaging |
Het |
| Qser1 |
A |
C |
2: 104,617,324 (GRCm39) |
Y1073D |
probably damaging |
Het |
| Rbl2 |
C |
A |
8: 91,826,685 (GRCm39) |
D480E |
probably damaging |
Het |
| Rfx7 |
G |
A |
9: 72,525,818 (GRCm39) |
G1003S |
probably damaging |
Het |
| Rrh |
A |
C |
3: 129,616,074 (GRCm39) |
F20V |
possibly damaging |
Het |
| Rwdd3 |
A |
G |
3: 120,965,282 (GRCm39) |
I15T |
possibly damaging |
Het |
| Sestd1 |
A |
T |
2: 77,022,889 (GRCm39) |
M493K |
possibly damaging |
Het |
| Slc17a8 |
T |
A |
10: 89,456,666 (GRCm39) |
L32F |
probably benign |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Tbc1d10a |
A |
T |
11: 4,162,826 (GRCm39) |
Y223F |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,681,051 (GRCm39) |
V147A |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,118,770 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
C |
A |
10: 105,249,646 (GRCm39) |
R29L |
probably damaging |
Het |
| Ttc21b |
T |
A |
2: 66,018,700 (GRCm39) |
M1236L |
probably benign |
Het |
| Unc119 |
T |
A |
11: 78,238,052 (GRCm39) |
C12S |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,839,787 (GRCm39) |
M1919T |
probably benign |
Het |
| Zmat4 |
C |
A |
8: 24,392,185 (GRCm39) |
T47K |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation