Incidental Mutation 'R7636:Itga4'
| ID |
589945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
045722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7636 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
79085770-79163467 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79144176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 688
(I688V)
|
| 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: I688V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: I688V
| 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 |
0.0754 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
C |
T |
16: 16,935,701 (GRCm39) |
E199K |
possibly damaging |
Het |
| Akap13 |
C |
A |
7: 75,259,621 (GRCm39) |
N748K |
probably benign |
Het |
| Aldh16a1 |
G |
T |
7: 44,796,955 (GRCm39) |
P58T |
unknown |
Het |
| Amhr2 |
T |
A |
15: 102,360,893 (GRCm39) |
C343S |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,380,239 (GRCm39) |
M2483K |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,513,048 (GRCm39) |
L649* |
probably null |
Het |
| Apob |
T |
C |
12: 8,059,516 (GRCm39) |
I2666T |
possibly damaging |
Het |
| C1ql3 |
A |
T |
2: 13,015,621 (GRCm39) |
V13E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,358,344 (GRCm39) |
I384V |
probably benign |
Het |
| Cimip2a |
A |
T |
2: 25,108,832 (GRCm39) |
H7L |
probably damaging |
Het |
| Clcn1 |
A |
T |
6: 42,268,268 (GRCm39) |
K147* |
probably null |
Het |
| Ctnna1 |
T |
A |
18: 35,356,526 (GRCm39) |
N398K |
possibly damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,605 (GRCm39) |
K176M |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,075,327 (GRCm39) |
S502T |
probably benign |
Het |
| Fam83e |
G |
A |
7: 45,376,450 (GRCm39) |
D388N |
probably damaging |
Het |
| Fbxl15 |
G |
A |
19: 46,317,614 (GRCm39) |
E99K |
probably benign |
Het |
| Fbxw2 |
T |
C |
2: 34,702,956 (GRCm39) |
T186A |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,668 (GRCm39) |
M1280L |
probably benign |
Het |
| Gbgt1 |
T |
A |
2: 28,395,326 (GRCm39) |
D321E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,700,041 (GRCm39) |
T244S |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,934,979 (GRCm39) |
G1675W |
probably damaging |
Het |
| Heatr5a |
G |
A |
12: 51,999,341 (GRCm39) |
L287F |
probably damaging |
Het |
| Hfm1 |
C |
A |
5: 107,065,332 (GRCm39) |
A116S |
probably benign |
Het |
| Insr |
A |
G |
8: 3,308,709 (GRCm39) |
I109T |
probably damaging |
Het |
| Lipe |
A |
G |
7: 25,088,042 (GRCm39) |
M49T |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,893,787 (GRCm39) |
Y496C |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,791,332 (GRCm39) |
|
probably null |
Het |
| Megf10 |
T |
A |
18: 57,410,061 (GRCm39) |
I614N |
possibly damaging |
Het |
| Mkx |
A |
G |
18: 7,000,630 (GRCm39) |
I104T |
possibly damaging |
Het |
| Mrgpra4 |
C |
A |
7: 47,630,721 (GRCm39) |
L293F |
possibly damaging |
Het |
| Olfm2 |
A |
G |
9: 20,579,593 (GRCm39) |
V386A |
possibly damaging |
Het |
| Or2w3b |
A |
T |
11: 58,623,273 (GRCm39) |
N239K |
possibly damaging |
Het |
| Or4a15 |
A |
T |
2: 89,193,583 (GRCm39) |
Y63* |
probably null |
Het |
| Or52s6 |
C |
A |
7: 103,092,040 (GRCm39) |
D97Y |
probably damaging |
Het |
| Pkd2l1 |
G |
T |
19: 44,179,870 (GRCm39) |
D113E |
possibly damaging |
Het |
| Rab11fip2 |
A |
T |
19: 59,931,317 (GRCm39) |
I39K |
possibly damaging |
Het |
| Rab1b |
A |
T |
19: 5,150,810 (GRCm39) |
V99E |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,597,586 (GRCm39) |
L140Q |
probably damaging |
Het |
| Repin1 |
T |
C |
6: 48,573,299 (GRCm39) |
F76S |
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,360,615 (GRCm39) |
D9G |
|
Het |
| Scn3a |
A |
G |
2: 65,328,033 (GRCm39) |
L819P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,574,172 (GRCm39) |
N150K |
possibly damaging |
Het |
| Sh2d3c |
T |
C |
2: 32,615,023 (GRCm39) |
S38P |
probably benign |
Het |
| Sin3b |
A |
T |
8: 73,474,362 (GRCm39) |
K549* |
probably null |
Het |
| Sorl1 |
A |
G |
9: 42,003,630 (GRCm39) |
F222S |
possibly damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,130,973 (GRCm39) |
D679V |
probably benign |
Het |
| Tmem147 |
A |
T |
7: 30,427,726 (GRCm39) |
|
probably null |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmem179 |
C |
T |
12: 112,477,177 (GRCm39) |
|
probably null |
Het |
| Tubg2 |
A |
T |
11: 101,050,913 (GRCm39) |
I213F |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,441 (GRCm39) |
I1497T |
probably benign |
Het |
| Zfp128 |
A |
T |
7: 12,624,039 (GRCm39) |
M136L |
probably benign |
Het |
| Zzz3 |
G |
A |
3: 152,133,289 (GRCm39) |
A116T |
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 |
|
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 |
|
|
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'- GTATGAGGTCATCCCATGGTTG -3'
(R):5'- TCTCAAGGGCAGGAAGAACATC -3'
Sequencing Primer
(F):5'- GTCATCCCATGGTTGTTATTCTAAG -3'
(R):5'- TCTCAAAATAATGGGAGATTGAGTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation