Incidental Mutation 'R0001:Itga4'
| ID |
32218 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
038297-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0001 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79156931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 1024
(Y1024S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
[ENSMUST00000156731]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099972
AA Change: Y1024S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: Y1024S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156731
|
| Meta Mutation Damage Score |
0.4525 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
99% (76/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
A |
7: 12,288,534 (GRCm39) |
|
probably benign |
Het |
| A4galt |
A |
G |
15: 83,112,490 (GRCm39) |
F98L |
probably benign |
Het |
| Abca4 |
T |
G |
3: 121,874,660 (GRCm39) |
|
probably benign |
Het |
| Acacb |
C |
T |
5: 114,342,894 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,069,611 (GRCm39) |
H367L |
probably damaging |
Het |
| Apoa4 |
C |
A |
9: 46,154,190 (GRCm39) |
Q264K |
probably benign |
Het |
| Camsap2 |
A |
T |
1: 136,210,626 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
C |
A |
2: 120,554,232 (GRCm39) |
R939L |
probably benign |
Het |
| Ceacam18 |
G |
A |
7: 43,286,300 (GRCm39) |
V58I |
possibly damaging |
Het |
| Ciita |
A |
T |
16: 10,332,297 (GRCm39) |
|
probably benign |
Het |
| Clk4 |
T |
A |
11: 51,159,592 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
T |
C |
6: 46,507,105 (GRCm39) |
D215G |
probably benign |
Het |
| Col11a2 |
T |
C |
17: 34,280,586 (GRCm39) |
S1218P |
probably benign |
Het |
| Col20a1 |
T |
C |
2: 180,626,205 (GRCm39) |
|
probably benign |
Het |
| Ctsb |
A |
G |
14: 63,373,071 (GRCm39) |
E76G |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,205,659 (GRCm39) |
C161R |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,101,090 (GRCm39) |
L1211P |
probably damaging |
Het |
| Dhx9 |
G |
T |
1: 153,338,382 (GRCm39) |
T759K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,964 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
C |
T |
18: 43,491,440 (GRCm39) |
E226K |
possibly damaging |
Het |
| Eif2d |
A |
T |
1: 131,095,864 (GRCm39) |
K453* |
probably null |
Het |
| Epha7 |
T |
C |
4: 28,961,279 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,169 (GRCm39) |
D118G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
| Foxn4 |
T |
A |
5: 114,398,931 (GRCm39) |
Q159L |
probably damaging |
Het |
| Frs2 |
G |
T |
10: 116,910,781 (GRCm39) |
H194N |
possibly damaging |
Het |
| Fut8 |
A |
T |
12: 77,522,089 (GRCm39) |
*576L |
probably null |
Het |
| Galns |
T |
C |
8: 123,322,622 (GRCm39) |
|
probably benign |
Het |
| Gamt |
G |
A |
10: 80,094,895 (GRCm39) |
|
probably benign |
Het |
| Gpn1 |
T |
A |
5: 31,652,961 (GRCm39) |
|
probably benign |
Het |
| Ipcef1 |
G |
T |
10: 6,850,600 (GRCm39) |
H330Q |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,259,787 (GRCm39) |
I229V |
probably benign |
Het |
| Katnal1 |
A |
G |
5: 148,858,085 (GRCm39) |
S42P |
probably damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,349,298 (GRCm39) |
D142V |
probably damaging |
Het |
| Lig3 |
C |
T |
11: 82,681,417 (GRCm39) |
R470W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,817 (GRCm39) |
S344G |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mipol1 |
C |
T |
12: 57,507,625 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,300,901 (GRCm39) |
V1378M |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,748 (GRCm39) |
D762V |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,790,303 (GRCm39) |
T43A |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,227,841 (GRCm39) |
T1316A |
possibly damaging |
Het |
| Naip5 |
A |
G |
13: 100,351,158 (GRCm39) |
|
probably null |
Het |
| Naip5 |
C |
A |
13: 100,359,622 (GRCm39) |
S538I |
probably benign |
Het |
| Nek3 |
A |
T |
8: 22,648,628 (GRCm39) |
|
probably benign |
Het |
| Nlrp1b |
A |
G |
11: 71,052,585 (GRCm39) |
S948P |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,169,822 (GRCm39) |
H193L |
probably benign |
Het |
| Or52h1 |
T |
A |
7: 103,828,680 (GRCm39) |
K312* |
probably null |
Het |
| Or9s23 |
A |
G |
1: 92,501,183 (GRCm39) |
K97E |
possibly damaging |
Het |
| Patl2 |
G |
A |
2: 121,956,191 (GRCm39) |
|
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,557,042 (GRCm39) |
R791W |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,355,265 (GRCm39) |
|
probably benign |
Het |
| Pkn2 |
A |
T |
3: 142,534,749 (GRCm39) |
V73D |
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,818,610 (GRCm39) |
H281L |
probably damaging |
Het |
| Polr3a |
A |
G |
14: 24,502,257 (GRCm39) |
|
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,264,006 (GRCm39) |
|
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,585,416 (GRCm39) |
F783S |
probably damaging |
Het |
| Rbm5 |
T |
C |
9: 107,619,623 (GRCm39) |
R125G |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,223 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,527,562 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
G |
A |
11: 53,918,829 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
| Spmip5 |
G |
A |
19: 58,777,603 (GRCm39) |
A61V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,066,460 (GRCm39) |
T3208I |
possibly damaging |
Het |
| Tgm5 |
G |
T |
2: 120,908,127 (GRCm39) |
D16E |
probably damaging |
Het |
| Tpp2 |
A |
G |
1: 44,010,886 (GRCm39) |
N558D |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,835,511 (GRCm39) |
L507Q |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,692,695 (GRCm39) |
Q262L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,316 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,662,433 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,179,099 (GRCm39) |
L3316Q |
probably damaging |
Het |
| Uckl1 |
T |
A |
2: 181,216,448 (GRCm39) |
Y136F |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,148,534 (GRCm39) |
V870A |
probably benign |
Het |
| Zdhhc25 |
A |
G |
15: 88,485,112 (GRCm39) |
D149G |
probably benign |
Het |
| Zfp648 |
C |
T |
1: 154,081,032 (GRCm39) |
T397M |
probably damaging |
Het |
| Zic2 |
C |
A |
14: 122,716,369 (GRCm39) |
T435K |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGAGCTAGGCAAACATGGGC -3'
(R):5'- AACAGGTCACCTCTCCGGTACATC -3'
Sequencing Primer
(F):5'- AACATGGGCAAAGTTAAAAGTATTG -3'
(R):5'- TGACAAGCCACCTTTGGGTAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation