Incidental Mutation 'R9403:Itga4'
| ID |
711329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga4
|
| Ensembl Gene |
ENSMUSG00000027009 |
| Gene Name |
integrin alpha 4 |
| Synonyms |
VLA-4 receptor, alpha 4 subunit |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
79255426-79333123 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79325660 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 990
(I990N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099972]
[ENSMUST00000156731]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099972
AA Change: I990N
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099718
Gene: ENSMUSG00000027009
AA Change: I990N
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
T |
G |
6: 96,165,299 (GRCm38) |
T255P |
probably benign |
Het |
| 4930444G20Rik |
C |
T |
10: 22,067,941 (GRCm38) |
D47N |
possibly damaging |
Het |
| Angpt4 |
C |
T |
2: 151,938,972 (GRCm38) |
T380M |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Cyp3a41a |
T |
A |
5: 145,702,198 (GRCm38) |
Y320F |
probably damaging |
Het |
| Dmtf1 |
A |
G |
5: 9,121,927 (GRCm38) |
L503S |
possibly damaging |
Het |
| Dock1 |
T |
C |
7: 135,168,396 (GRCm38) |
V1795A |
probably benign |
Het |
| Dpys |
C |
G |
15: 39,828,071 (GRCm38) |
W285S |
probably damaging |
Het |
| Fam187b |
T |
C |
7: 30,977,090 (GRCm38) |
V8A |
|
Het |
| Fbn2 |
T |
C |
18: 58,066,107 (GRCm38) |
E1363G |
probably damaging |
Het |
| Glg1 |
C |
T |
8: 111,187,793 (GRCm38) |
R453Q |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,520,148 (GRCm38) |
M434L |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,522,256 (GRCm38) |
T130A |
probably damaging |
Het |
| Gpld1 |
G |
A |
13: 24,979,729 (GRCm38) |
V502I |
probably benign |
Het |
| Inhba |
A |
G |
13: 16,017,381 (GRCm38) |
H29R |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,543,077 (GRCm38) |
I280L |
probably benign |
Het |
| Malrd1 |
T |
C |
2: 15,614,177 (GRCm38) |
V284A |
|
Het |
| Maml2 |
C |
T |
9: 13,621,673 (GRCm38) |
Q728* |
probably null |
Het |
| Mkln1 |
T |
C |
6: 31,432,970 (GRCm38) |
L181P |
probably damaging |
Het |
| Mms22l |
T |
C |
4: 24,580,204 (GRCm38) |
|
probably null |
Het |
| Muc16 |
A |
G |
9: 18,537,764 (GRCm38) |
|
probably null |
Het |
| Mylk |
C |
A |
16: 34,875,642 (GRCm38) |
S249* |
probably null |
Het |
| Naa35 |
G |
A |
13: 59,601,003 (GRCm38) |
A150T |
possibly damaging |
Het |
| Naip5 |
T |
A |
13: 100,219,830 (GRCm38) |
E1092D |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,199,974 (GRCm38) |
R635H |
probably benign |
Het |
| Olfr263 |
T |
C |
13: 21,133,695 (GRCm38) |
F307L |
probably benign |
Het |
| Olfr723 |
T |
C |
14: 49,929,449 (GRCm38) |
T32A |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,810,532 (GRCm38) |
I26V |
probably benign |
Het |
| Polq |
T |
C |
16: 37,061,853 (GRCm38) |
S1460P |
probably benign |
Het |
| Ptgdr |
A |
G |
14: 44,853,258 (GRCm38) |
S348P |
|
Het |
| Qsox1 |
A |
G |
1: 155,782,597 (GRCm38) |
S409P |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,494,854 (GRCm38) |
Y99F |
possibly damaging |
Het |
| Rptn |
C |
A |
3: 93,395,042 (GRCm38) |
H22N |
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,467,570 (GRCm38) |
|
probably benign |
Het |
| Sh2b1 |
GGACCAGCTCAG |
GGACCAGCTCAGTCACGGTGACCAGCTCAG |
7: 126,467,573 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
ACCAGCTCAGCCACGGGG |
ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG |
7: 126,467,575 (GRCm38) |
|
probably benign |
Het |
| Slc2a3 |
A |
C |
6: 122,736,610 (GRCm38) |
I214M |
probably damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,276,641 (GRCm38) |
N540K |
probably benign |
Het |
| Slco6c1 |
A |
T |
1: 97,062,523 (GRCm38) |
S664R |
possibly damaging |
Het |
| Tgm4 |
C |
A |
9: 123,052,772 (GRCm38) |
S344R |
probably damaging |
Het |
| Trim61 |
T |
A |
8: 65,014,576 (GRCm38) |
Q11L |
probably damaging |
Het |
| Trpm6 |
C |
A |
19: 18,832,652 (GRCm38) |
D1137E |
possibly damaging |
Het |
| Txndc2 |
G |
A |
17: 65,637,997 (GRCm38) |
T395I |
probably damaging |
Het |
| Txndc9 |
T |
C |
1: 37,995,778 (GRCm38) |
E15G |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,745,824 (GRCm38) |
I778T |
possibly damaging |
Het |
| Zfp383 |
T |
C |
7: 29,915,259 (GRCm38) |
F313S |
possibly damaging |
Het |
|
| Other mutations in Itga4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Itga4
|
APN |
2 |
79,292,050 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01317:Itga4
|
APN |
2 |
79,322,661 (GRCm38) |
nonsense |
probably null |
|
|
IGL01545:Itga4
|
APN |
2 |
79,315,970 (GRCm38) |
splice site |
probably benign |
|
|
IGL01570:Itga4
|
APN |
2 |
79,322,634 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL01575:Itga4
|
APN |
2 |
79,288,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01837:Itga4
|
APN |
2 |
79,315,005 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01974:Itga4
|
APN |
2 |
79,273,127 (GRCm38) |
splice site |
probably benign |
|
|
IGL02087:Itga4
|
APN |
2 |
79,292,069 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02245:Itga4
|
APN |
2 |
79,320,559 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02492:Itga4
|
APN |
2 |
79,255,657 (GRCm38) |
utr 5 prime |
probably benign |
|
|
IGL02809:Itga4
|
APN |
2 |
79,280,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02998:Itga4
|
APN |
2 |
79,277,821 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03008:Itga4
|
APN |
2 |
79,325,638 (GRCm38) |
missense |
probably benign |
|
|
IGL03282:Itga4
|
APN |
2 |
79,325,594 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03285:Itga4
|
APN |
2 |
79,279,166 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL03286:Itga4
|
APN |
2 |
79,289,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0001:Itga4
|
UTSW |
2 |
79,326,587 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0045:Itga4
|
UTSW |
2 |
79,301,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0276:Itga4
|
UTSW |
2 |
79,321,493 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0554:Itga4
|
UTSW |
2 |
79,279,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0556:Itga4
|
UTSW |
2 |
79,325,639 (GRCm38) |
missense |
probably benign |
|
|
R0785:Itga4
|
UTSW |
2 |
79,289,305 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0787:Itga4
|
UTSW |
2 |
79,279,153 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1013:Itga4
|
UTSW |
2 |
79,320,503 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1237:Itga4
|
UTSW |
2 |
79,279,146 (GRCm38) |
missense |
probably null |
0.08 |
|
R1295:Itga4
|
UTSW |
2 |
79,322,689 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1471:Itga4
|
UTSW |
2 |
79,287,032 (GRCm38) |
missense |
probably benign |
0.26 |
|
R1559:Itga4
|
UTSW |
2 |
79,315,688 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1769:Itga4
|
UTSW |
2 |
79,315,706 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1931:Itga4
|
UTSW |
2 |
79,313,844 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2012:Itga4
|
UTSW |
2 |
79,277,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2241:Itga4
|
UTSW |
2 |
79,301,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3793:Itga4
|
UTSW |
2 |
79,279,128 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4133:Itga4
|
UTSW |
2 |
79,322,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4204:Itga4
|
UTSW |
2 |
79,279,161 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4296:Itga4
|
UTSW |
2 |
79,272,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4777:Itga4
|
UTSW |
2 |
79,313,710 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4906:Itga4
|
UTSW |
2 |
79,288,248 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5048:Itga4
|
UTSW |
2 |
79,273,034 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5087:Itga4
|
UTSW |
2 |
79,315,629 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R5212:Itga4
|
UTSW |
2 |
79,280,595 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5213:Itga4
|
UTSW |
2 |
79,320,576 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5421:Itga4
|
UTSW |
2 |
79,316,041 (GRCm38) |
nonsense |
probably null |
|
|
R5549:Itga4
|
UTSW |
2 |
79,256,267 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5907:Itga4
|
UTSW |
2 |
79,322,656 (GRCm38) |
missense |
probably benign |
|
|
R5917:Itga4
|
UTSW |
2 |
79,287,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6309:Itga4
|
UTSW |
2 |
79,279,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6764:Itga4
|
UTSW |
2 |
79,325,614 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6787:Itga4
|
UTSW |
2 |
79,289,265 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6790:Itga4
|
UTSW |
2 |
79,325,614 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7051:Itga4
|
UTSW |
2 |
79,318,126 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7311:Itga4
|
UTSW |
2 |
79,256,182 (GRCm38) |
missense |
probably benign |
|
|
R7520:Itga4
|
UTSW |
2 |
79,300,989 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7573:Itga4
|
UTSW |
2 |
79,272,993 (GRCm38) |
missense |
probably benign |
|
|
R7636:Itga4
|
UTSW |
2 |
79,313,832 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7889:Itga4
|
UTSW |
2 |
79,316,045 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8123:Itga4
|
UTSW |
2 |
79,315,683 (GRCm38) |
missense |
probably benign |
|
|
R8284:Itga4
|
UTSW |
2 |
79,321,439 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8445:Itga4
|
UTSW |
2 |
79,281,781 (GRCm38) |
missense |
probably benign |
|
|
R8553:Itga4
|
UTSW |
2 |
79,301,061 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8696:Itga4
|
UTSW |
2 |
79,281,781 (GRCm38) |
missense |
probably benign |
|
|
R8900:Itga4
|
UTSW |
2 |
79,314,988 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8922:Itga4
|
UTSW |
2 |
79,255,594 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R9359:Itga4
|
UTSW |
2 |
79,325,660 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGTTCTGATCTCTGTGGAGG -3'
(R):5'- CAAACGGACTCTTGTAGTGAAG -3'
Sequencing Primer
(F):5'- CTGATCTCTGTGGAGGCCTGG -3'
(R):5'- TTGAGATAGCAATGGGAAACAAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation