Incidental Mutation 'R5087:Itga4'
| ID |
387491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
042676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5087 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79145973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 725
(D725A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099972
AA Change: D725A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: D725A
| 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 |
|
| Meta Mutation Damage Score |
0.1762 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (66/67) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
G |
1: 9,631,851 (GRCm39) |
|
probably benign |
Het |
| Anln |
T |
C |
9: 22,286,340 (GRCm39) |
T322A |
possibly damaging |
Het |
| Best3 |
A |
T |
10: 116,844,907 (GRCm39) |
Y354F |
probably benign |
Het |
| Cd44 |
C |
T |
2: 102,661,699 (GRCm39) |
V509I |
possibly damaging |
Het |
| Cdk5rap1 |
T |
C |
2: 154,184,315 (GRCm39) |
N529S |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,450,378 (GRCm39) |
D614G |
possibly damaging |
Het |
| Cpq |
T |
C |
15: 33,213,008 (GRCm39) |
I9T |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,419,936 (GRCm39) |
H265R |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,168,621 (GRCm39) |
M458K |
probably damaging |
Het |
| Disc1 |
A |
C |
8: 125,858,899 (GRCm39) |
I454L |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,023 (GRCm39) |
E4G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eipr1 |
C |
A |
12: 28,878,855 (GRCm39) |
N136K |
probably benign |
Het |
| Fut11 |
A |
G |
14: 20,746,229 (GRCm39) |
N357S |
probably damaging |
Het |
| Gbp2b |
C |
T |
3: 142,304,015 (GRCm39) |
P37S |
probably damaging |
Het |
| Ghr |
T |
G |
15: 3,349,622 (GRCm39) |
K519Q |
probably damaging |
Het |
| Gipr |
C |
A |
7: 18,893,689 (GRCm39) |
C328F |
probably damaging |
Het |
| Gm27013 |
A |
T |
6: 130,654,633 (GRCm39) |
N276K |
probably damaging |
Het |
| Got2 |
C |
A |
8: 96,598,951 (GRCm39) |
K150N |
probably benign |
Het |
| Gucy2c |
A |
G |
6: 136,744,033 (GRCm39) |
S189P |
possibly damaging |
Het |
| H2-T5 |
C |
A |
17: 36,476,308 (GRCm39) |
G347* |
probably null |
Het |
| Hells |
T |
C |
19: 38,932,189 (GRCm39) |
V153A |
probably benign |
Het |
| Ighd |
G |
A |
12: 113,378,047 (GRCm39) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,143,420 (GRCm39) |
V361M |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,204,151 (GRCm39) |
L414Q |
possibly damaging |
Het |
| Kat2b-ps |
A |
G |
5: 93,539,585 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc1 |
A |
T |
9: 77,364,740 (GRCm39) |
S192T |
probably benign |
Het |
| Mc2r |
A |
T |
18: 68,541,274 (GRCm39) |
N6K |
probably benign |
Het |
| Moxd2 |
A |
C |
6: 40,856,270 (GRCm39) |
L534W |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,146,235 (GRCm39) |
D1431V |
probably damaging |
Het |
| Naa15 |
T |
A |
3: 51,364,706 (GRCm39) |
|
probably null |
Het |
| Naa16 |
G |
A |
14: 79,614,855 (GRCm39) |
T215I |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,645 (GRCm39) |
Y60* |
probably null |
Het |
| Or1e29 |
T |
C |
11: 73,668,084 (GRCm39) |
Y23C |
possibly damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,612 (GRCm39) |
V204E |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,867,296 (GRCm39) |
|
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,041,713 (GRCm39) |
P2115Q |
probably damaging |
Het |
| Pfkfb3 |
G |
A |
2: 11,488,825 (GRCm39) |
T313I |
probably damaging |
Het |
| Pld1 |
A |
G |
3: 28,178,731 (GRCm39) |
N875S |
probably damaging |
Het |
| Ptpn20 |
A |
T |
14: 33,336,398 (GRCm39) |
D79V |
possibly damaging |
Het |
| Rabgap1l |
C |
A |
1: 160,549,809 (GRCm39) |
V266L |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,171,009 (GRCm39) |
D295G |
probably damaging |
Het |
| Sass6 |
T |
C |
3: 116,403,947 (GRCm39) |
L195P |
probably damaging |
Het |
| Slc25a27 |
A |
G |
17: 43,977,821 (GRCm39) |
S25P |
probably damaging |
Het |
| Smok2b |
T |
A |
17: 13,454,011 (GRCm39) |
M57K |
probably benign |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,465,405 (GRCm39) |
V71A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,881,261 (GRCm39) |
L590F |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,527,500 (GRCm39) |
Y1252* |
probably null |
Het |
| Syde2 |
T |
A |
3: 145,712,881 (GRCm39) |
D1006E |
probably damaging |
Het |
| Syde2 |
CAGTT |
CAGTTAGTT |
3: 145,707,163 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
G |
A |
7: 118,244,609 (GRCm39) |
A496T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,566,704 (GRCm39) |
V28063A |
probably damaging |
Het |
| Usp25 |
A |
C |
16: 76,874,007 (GRCm39) |
I528L |
probably benign |
Het |
| Vmn1r58 |
C |
T |
7: 5,413,666 (GRCm39) |
S188N |
probably benign |
Het |
| Wfikkn2 |
A |
T |
11: 94,129,173 (GRCm39) |
C323S |
probably damaging |
Het |
| Zfy1 |
A |
C |
Y: 732,964 (GRCm39) |
S290A |
unknown |
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 |
|
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'- AAAGCATCTTTAATGGTGTCCGTC -3'
(R):5'- TATCAAAACAGGGCGCCATG -3'
Sequencing Primer
(F):5'- TGCCAGGCTTTACACTCAGAG -3'
(R):5'- GCGCCATGGATCCCTTAAAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation