Incidental Mutation 'R0556:Itga4'
ID |
45540 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga4
|
Ensembl Gene |
ENSMUSG00000027009 |
Gene Name |
integrin alpha 4 |
Synonyms |
VLA-4 receptor, alpha 4 subunit |
MMRRC Submission |
038748-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0556 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79155983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 983
(I983T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
[ENSMUST00000156731]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099972
AA Change: I983T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099718 Gene: ENSMUSG00000027009 AA Change: I983T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
98% (64/65) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600012H06Rik |
T |
A |
17: 15,164,213 (GRCm39) |
Y113* |
probably null |
Het |
4930402F06Rik |
T |
C |
2: 35,280,482 (GRCm39) |
|
probably benign |
Het |
Acad11 |
A |
G |
9: 103,992,501 (GRCm39) |
E481G |
probably damaging |
Het |
Aldh1a1 |
A |
T |
19: 20,611,842 (GRCm39) |
N389Y |
probably damaging |
Het |
Bmpr2 |
C |
T |
1: 59,854,487 (GRCm39) |
T112M |
probably damaging |
Het |
Bms1 |
A |
G |
6: 118,390,140 (GRCm39) |
Y227H |
probably damaging |
Het |
Cab39 |
A |
G |
1: 85,763,212 (GRCm39) |
|
probably benign |
Het |
Ccn3 |
A |
T |
15: 54,612,563 (GRCm39) |
T191S |
probably damaging |
Het |
Ccno |
T |
C |
13: 113,124,820 (GRCm39) |
|
probably null |
Het |
Cct6b |
A |
G |
11: 82,610,270 (GRCm39) |
|
probably benign |
Het |
Cd101 |
A |
C |
3: 100,927,970 (GRCm39) |
I37S |
probably damaging |
Het |
Ces1a |
T |
C |
8: 93,771,740 (GRCm39) |
H19R |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,456,649 (GRCm39) |
|
probably null |
Het |
Cntnap1 |
T |
C |
11: 101,074,822 (GRCm39) |
F831S |
probably benign |
Het |
Col24a1 |
A |
G |
3: 145,020,489 (GRCm39) |
T287A |
possibly damaging |
Het |
Colgalt2 |
C |
T |
1: 152,347,564 (GRCm39) |
|
probably benign |
Het |
Cpd |
A |
G |
11: 76,693,171 (GRCm39) |
|
probably benign |
Het |
Cyp3a16 |
C |
A |
5: 145,392,790 (GRCm39) |
M145I |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,757,719 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
T |
4: 98,833,426 (GRCm39) |
L1925Q |
probably damaging |
Het |
Eif4g1 |
A |
T |
16: 20,494,544 (GRCm39) |
Y127F |
probably damaging |
Het |
Erap1 |
T |
A |
13: 74,808,444 (GRCm39) |
V52E |
probably damaging |
Het |
Fbxo6 |
G |
T |
4: 148,230,632 (GRCm39) |
T210N |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,858,803 (GRCm39) |
H2308Y |
probably benign |
Het |
Garre1 |
T |
C |
7: 33,939,222 (GRCm39) |
T222A |
probably damaging |
Het |
Gnat3 |
T |
G |
5: 18,224,596 (GRCm39) |
V332G |
probably damaging |
Het |
Ift22 |
T |
A |
5: 136,940,145 (GRCm39) |
|
probably null |
Het |
Igkv4-71 |
A |
G |
6: 69,220,171 (GRCm39) |
C109R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,296 (GRCm39) |
L1295P |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,079,491 (GRCm39) |
V65D |
probably damaging |
Het |
Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,631,809 (GRCm39) |
|
probably null |
Het |
Morc2b |
A |
T |
17: 33,356,812 (GRCm39) |
M320K |
probably benign |
Het |
Ms4a18 |
C |
A |
19: 10,991,065 (GRCm39) |
V10F |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,103,284 (GRCm39) |
I207F |
probably benign |
Het |
Mtor |
A |
G |
4: 148,553,837 (GRCm39) |
E812G |
possibly damaging |
Het |
Myo1h |
A |
G |
5: 114,457,852 (GRCm39) |
Y121C |
probably damaging |
Het |
Or11g27 |
T |
C |
14: 50,771,381 (GRCm39) |
S171P |
probably benign |
Het |
Or4a66 |
A |
C |
2: 88,531,115 (GRCm39) |
V186G |
possibly damaging |
Het |
Or8b53 |
A |
T |
9: 38,667,041 (GRCm39) |
D19V |
possibly damaging |
Het |
Plcd3 |
G |
A |
11: 102,968,632 (GRCm39) |
T353M |
probably damaging |
Het |
Pnpla7 |
T |
A |
2: 24,942,313 (GRCm39) |
|
probably null |
Het |
Ppp1r12b |
T |
A |
1: 134,705,060 (GRCm39) |
Y876F |
probably damaging |
Het |
Prelid2 |
T |
A |
18: 42,084,245 (GRCm39) |
|
probably benign |
Het |
Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
Prr12 |
A |
G |
7: 44,680,093 (GRCm39) |
L1887P |
unknown |
Het |
Ptk2b |
A |
G |
14: 66,409,593 (GRCm39) |
L481P |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,887,140 (GRCm39) |
K531* |
probably null |
Het |
Sacs |
A |
G |
14: 61,421,407 (GRCm39) |
I115V |
probably damaging |
Het |
Septin3 |
G |
T |
15: 82,167,966 (GRCm39) |
|
probably benign |
Het |
Simc1 |
T |
C |
13: 54,673,160 (GRCm39) |
S503P |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,529,404 (GRCm39) |
V1887A |
probably benign |
Het |
Synj2 |
T |
A |
17: 6,088,230 (GRCm39) |
L1427* |
probably null |
Het |
Taar2 |
A |
G |
10: 23,816,793 (GRCm39) |
D111G |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,716 (GRCm39) |
N340S |
probably damaging |
Het |
Tmco2 |
A |
G |
4: 120,966,314 (GRCm39) |
L14P |
probably damaging |
Het |
Tnik |
A |
T |
3: 28,679,367 (GRCm39) |
D746V |
possibly damaging |
Het |
Trip11 |
C |
A |
12: 101,850,777 (GRCm39) |
E811* |
probably null |
Het |
Ttll9 |
T |
C |
2: 152,815,526 (GRCm39) |
|
probably null |
Het |
Uchl1 |
A |
G |
5: 66,839,824 (GRCm39) |
E122G |
probably benign |
Het |
Vwa3b |
C |
A |
1: 37,203,566 (GRCm39) |
|
probably benign |
Het |
Zan |
T |
C |
5: 137,452,482 (GRCm39) |
N1533S |
unknown |
Het |
Zfp687 |
G |
T |
3: 94,917,719 (GRCm39) |
D684E |
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 |
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 |
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'- GGCAGGGTGAACAGTTCTGATCTC -3'
(R):5'- TTTCCCAAACGGACTCTTGTAGTGAAG -3'
Sequencing Primer
(F):5'- GTCAGCAGTGCTATGTCTGA -3'
(R):5'- TAGTAAACATTGAGATAGCAATGGG -3'
|
Posted On |
2013-06-11 |