Incidental Mutation 'R5212:Itga4'
| ID |
403166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
042786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5212 (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 79110939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 259
(H259P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099972
AA Change: H259P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: H259P
| 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 |
noncoding transcript
Transcript: ENSMUST00000126312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135919
|
| Meta Mutation Damage Score |
0.4252 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
97% (58/60) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,771,611 (GRCm39) |
S267T |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 109,998,052 (GRCm39) |
D1514G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,584,980 (GRCm39) |
D896V |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
| Arglu1 |
T |
A |
8: 8,733,843 (GRCm39) |
R158W |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,778,388 (GRCm39) |
E46G |
probably benign |
Het |
| Atg2b |
A |
G |
12: 105,613,055 (GRCm39) |
V1172A |
probably benign |
Het |
| Bhlhe23 |
T |
A |
2: 180,417,886 (GRCm39) |
K217N |
probably damaging |
Het |
| Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
| Ccp110 |
C |
T |
7: 118,328,919 (GRCm39) |
A845V |
probably damaging |
Het |
| Cd63 |
A |
G |
10: 128,747,722 (GRCm39) |
Y105C |
probably damaging |
Het |
| Cdk11b |
T |
C |
4: 155,723,072 (GRCm39) |
|
probably null |
Het |
| Clip1 |
T |
A |
5: 123,768,744 (GRCm39) |
R618S |
probably benign |
Het |
| Crybg1 |
A |
T |
10: 43,843,739 (GRCm39) |
F1731L |
possibly damaging |
Het |
| Dock1 |
A |
C |
7: 134,390,923 (GRCm39) |
K728Q |
possibly damaging |
Het |
| Emc2 |
A |
G |
15: 43,374,240 (GRCm39) |
E180G |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,440,725 (GRCm39) |
I394F |
probably benign |
Het |
| Fnta |
A |
G |
8: 26,499,735 (GRCm39) |
I155T |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,685 (GRCm39) |
E331V |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,684 (GRCm39) |
E331D |
probably benign |
Het |
| Gas2l1 |
A |
T |
11: 5,011,108 (GRCm39) |
C574S |
probably benign |
Het |
| Ggnbp2 |
T |
A |
11: 84,744,847 (GRCm39) |
|
probably benign |
Het |
| Gm3371 |
A |
C |
14: 44,641,111 (GRCm39) |
|
probably benign |
Het |
| Gm7489 |
T |
A |
15: 53,749,016 (GRCm39) |
|
probably benign |
Het |
| Hand1 |
A |
C |
11: 57,722,273 (GRCm39) |
F114V |
probably damaging |
Het |
| Jakmip1 |
A |
T |
5: 37,262,245 (GRCm39) |
H183L |
probably benign |
Het |
| Kifbp |
A |
T |
10: 62,398,908 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
T |
15: 101,906,402 (GRCm39) |
A369D |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,453,484 (GRCm39) |
S301G |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,678,504 (GRCm39) |
T248A |
probably benign |
Het |
| Madcam1 |
C |
G |
10: 79,504,179 (GRCm39) |
T255S |
probably benign |
Het |
| Med20 |
T |
C |
17: 47,929,775 (GRCm39) |
Y71H |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,455,850 (GRCm39) |
I107V |
probably damaging |
Het |
| Nans |
T |
C |
4: 46,502,547 (GRCm39) |
F328S |
possibly damaging |
Het |
| Ncbp3 |
A |
G |
11: 72,944,373 (GRCm39) |
|
probably benign |
Het |
| Nek8 |
T |
C |
11: 78,063,342 (GRCm39) |
M1V |
probably null |
Het |
| Nufip1 |
A |
T |
14: 76,370,538 (GRCm39) |
N413I |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,178,793 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
C |
T |
10: 79,698,279 (GRCm39) |
G419R |
probably benign |
Het |
| Rfx1 |
G |
T |
8: 84,793,221 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,839,045 (GRCm39) |
A68V |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,101,212 (GRCm39) |
M776K |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,450,238 (GRCm39) |
Y63N |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,319,178 (GRCm39) |
E320G |
probably damaging |
Het |
| Spaca6 |
C |
A |
17: 18,058,656 (GRCm39) |
P68Q |
probably benign |
Het |
| Tdrd3 |
G |
C |
14: 87,743,651 (GRCm39) |
R527P |
probably damaging |
Het |
| Tmprss2 |
G |
T |
16: 97,377,492 (GRCm39) |
Q202K |
probably benign |
Het |
| Tmprss6 |
A |
G |
15: 78,330,460 (GRCm39) |
V69A |
probably damaging |
Het |
| Trav6-1 |
A |
T |
14: 52,876,161 (GRCm39) |
Q27L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,731,957 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,619,945 (GRCm39) |
I15908V |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,628,019 (GRCm39) |
D12931V |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,902 (GRCm39) |
|
probably null |
Het |
| Wls |
A |
G |
3: 159,578,645 (GRCm39) |
N69S |
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 |
|
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'- GTTGCATCTGTAATCCTGGATG -3'
(R):5'- CAACTGATGCAATATACTGCTCATC -3'
Sequencing Primer
(F):5'- CTGTAATCCTGGATGACCATTTG -3'
(R):5'- TGATGCAATATACTGCTCATCATTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation