Incidental Mutation 'R8445:Itga4'
ID |
654430 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga4
|
Ensembl Gene |
ENSMUSG00000027009 |
Gene Name |
integrin alpha 4 |
Synonyms |
VLA-4 receptor, alpha 4 subunit |
MMRRC Submission |
067886-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8445 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79112125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 347
(M347V)
|
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: M347V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099718 Gene: ENSMUSG00000027009 AA Change: M347V
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
T |
G |
9: 70,674,203 (GRCm39) |
S522A |
probably benign |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Alg12 |
C |
T |
15: 88,698,689 (GRCm39) |
R212Q |
probably benign |
Het |
C330018D20Rik |
G |
A |
18: 57,090,962 (GRCm39) |
P67L |
probably damaging |
Het |
Col3a1 |
C |
T |
1: 45,380,340 (GRCm39) |
R955* |
probably null |
Het |
Cyp2j12 |
T |
A |
4: 96,021,259 (GRCm39) |
I116F |
possibly damaging |
Het |
Cyp4a10 |
T |
A |
4: 115,382,791 (GRCm39) |
W331R |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,692,110 (GRCm39) |
Y959N |
unknown |
Het |
Dytn |
T |
A |
1: 63,686,673 (GRCm39) |
K332N |
probably benign |
Het |
E130308A19Rik |
T |
A |
4: 59,720,526 (GRCm39) |
V686D |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,659,600 (GRCm39) |
Y792C |
probably benign |
Het |
Fam53c |
T |
C |
18: 34,901,368 (GRCm39) |
V95A |
probably benign |
Het |
Fbxl4 |
C |
A |
4: 22,385,983 (GRCm39) |
Q197K |
probably benign |
Het |
Fmod |
G |
A |
1: 133,968,736 (GRCm39) |
V259I |
probably benign |
Het |
Insrr |
T |
C |
3: 87,720,891 (GRCm39) |
S1050P |
probably damaging |
Het |
Kdm5d |
A |
G |
Y: 916,874 (GRCm39) |
E423G |
probably damaging |
Het |
Klra7 |
A |
T |
6: 130,204,078 (GRCm39) |
I147N |
possibly damaging |
Het |
Lbx1 |
T |
A |
19: 45,222,651 (GRCm39) |
K124I |
probably damaging |
Het |
Map4k5 |
T |
A |
12: 69,897,741 (GRCm39) |
H138L |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,091,237 (GRCm39) |
H153R |
probably damaging |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Nfatc4 |
A |
C |
14: 56,063,875 (GRCm39) |
I121L |
possibly damaging |
Het |
Nipa1 |
A |
T |
7: 55,629,466 (GRCm39) |
S216T |
probably benign |
Het |
Nlrp4e |
A |
T |
7: 23,039,965 (GRCm39) |
I763L |
probably benign |
Het |
Nop2 |
A |
G |
6: 125,111,567 (GRCm39) |
D100G |
probably benign |
Het |
Or2a52 |
A |
G |
6: 43,144,231 (GRCm39) |
M80V |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,394 (GRCm39) |
I158L |
probably benign |
Het |
Prelid3a |
A |
G |
18: 67,606,848 (GRCm39) |
E80G |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,445 (GRCm39) |
S137P |
possibly damaging |
Het |
Rbpms2 |
C |
T |
9: 65,558,303 (GRCm39) |
A113V |
possibly damaging |
Het |
Rph3a |
T |
C |
5: 121,111,433 (GRCm39) |
E49G |
probably damaging |
Het |
Shisa7 |
A |
T |
7: 4,839,352 (GRCm39) |
M124K |
probably benign |
Het |
Shprh |
C |
T |
10: 11,057,313 (GRCm39) |
P1078S |
possibly damaging |
Het |
Slc30a7 |
C |
T |
3: 115,800,995 (GRCm39) |
|
probably benign |
Het |
Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
Smg1 |
A |
C |
7: 117,736,200 (GRCm39) |
N3563K |
possibly damaging |
Het |
Spata31d1c |
G |
T |
13: 65,180,991 (GRCm39) |
S30I |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,498,532 (GRCm39) |
|
probably benign |
Het |
Tcp11l1 |
C |
A |
2: 104,512,278 (GRCm39) |
E451D |
probably benign |
Het |
Tfpt |
G |
A |
7: 3,623,928 (GRCm39) |
P160S |
probably damaging |
Het |
Thbs4 |
C |
A |
13: 92,927,349 (GRCm39) |
A47S |
probably benign |
Het |
Trpm2 |
T |
C |
10: 77,746,086 (GRCm39) |
D1482G |
probably damaging |
Het |
Tspyl4 |
C |
T |
10: 34,173,742 (GRCm39) |
A78V |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,002,995 (GRCm39) |
N135S |
probably damaging |
Het |
Vmn2r87 |
A |
T |
10: 130,313,335 (GRCm39) |
V477E |
probably damaging |
Het |
Wdr89 |
T |
C |
12: 75,679,636 (GRCm39) |
D206G |
probably damaging |
Het |
Zfp623 |
C |
A |
15: 75,819,402 (GRCm39) |
Y119* |
probably null |
Het |
Zfp879 |
A |
G |
11: 50,724,213 (GRCm39) |
M281T |
probably damaging |
Het |
Zfp952 |
T |
G |
17: 33,222,552 (GRCm39) |
F344V |
possibly damaging |
Het |
Zgrf1 |
T |
C |
3: 127,379,854 (GRCm39) |
|
probably null |
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 |
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 |
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'- AGTGCCGTGTATTCTCATTGC -3'
(R):5'- TTCGGAGCGTCAATACAACAG -3'
Sequencing Primer
(F):5'- GCATATATTCTTTGCTTTGGAACAGC -3'
(R):5'- CCAAGTTGGATCTCAGGAATATGC -3'
|
Posted On |
2020-10-20 |