Incidental Mutation 'IGL02955:Itga5'
| ID |
365085 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga5
|
| Ensembl Gene |
ENSMUSG00000000555 |
| Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
| Synonyms |
Fnra, Cd49e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103259261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 722
(D722G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023128]
[ENSMUST00000215331]
|
| AlphaFold |
P11688 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023128
AA Change: D722G
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: D722G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
40 |
N/A |
INTRINSIC |
|
Int_alpha
|
59 |
118 |
2.27e-8 |
SMART |
|
Int_alpha
|
271 |
321 |
9.6e-7 |
SMART |
|
Int_alpha
|
325 |
387 |
1.03e-15 |
SMART |
|
Int_alpha
|
391 |
447 |
4.17e-16 |
SMART |
|
Int_alpha
|
455 |
511 |
1.49e-3 |
SMART |
|
SCOP:d1m1xa2
|
651 |
789 |
3e-44 |
SMART |
|
SCOP:d1m1xa3
|
792 |
992 |
1e-62 |
SMART |
|
transmembrane domain
|
1003 |
1025 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230775
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes the integrin alpha 5 chain, which is proteolytically processed to generate light and heavy chains that join with beta 1 to form a fibronectin receptor. In addition to adhesion, integrins are known to participate in cell-surface mediated signaling. Integrin alpha 5 and integrin alpha V chains are produced by distinct genes. Homozygous knockout mice for this gene exhibit embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in posterior trunk and yolk sac mesodermal structures, lack of epithelialization of somites, reduced numbers of Schwann cells, and lethality around embryonic day 10-11. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abr |
T |
A |
11: 76,309,991 (GRCm39) |
H840L |
probably damaging |
Het |
| Anks1 |
A |
G |
17: 28,273,291 (GRCm39) |
D970G |
probably damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,591 (GRCm39) |
K162R |
probably null |
Het |
| Bicd2 |
T |
C |
13: 49,531,691 (GRCm39) |
V311A |
probably benign |
Het |
| Cblif |
T |
C |
19: 11,725,027 (GRCm39) |
L6P |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,437,123 (GRCm39) |
L489P |
probably damaging |
Het |
| Cd55 |
G |
T |
1: 130,377,219 (GRCm39) |
T38K |
probably damaging |
Het |
| Cep250 |
C |
A |
2: 155,817,676 (GRCm39) |
A749E |
probably benign |
Het |
| Cntn3 |
G |
T |
6: 102,255,262 (GRCm39) |
T212N |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,199,097 (GRCm39) |
|
probably benign |
Het |
| Dclre1c |
A |
G |
2: 3,439,089 (GRCm39) |
E83G |
probably damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,256 (GRCm39) |
N244S |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,142,864 (GRCm39) |
T1151A |
probably benign |
Het |
| Fer |
G |
A |
17: 64,298,712 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,584 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,875,014 (GRCm39) |
L991P |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,267,565 (GRCm39) |
I586T |
probably benign |
Het |
| Lig1 |
G |
A |
7: 13,030,273 (GRCm39) |
G417R |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,103 (GRCm39) |
I559T |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,343,300 (GRCm39) |
I1731V |
probably benign |
Het |
| Mfsd13a |
T |
G |
19: 46,356,192 (GRCm39) |
V99G |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,264,391 (GRCm39) |
H153R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,060,637 (GRCm39) |
Y724H |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 53,548,048 (GRCm39) |
N101K |
probably damaging |
Het |
| Nuf2 |
A |
G |
1: 169,334,807 (GRCm39) |
|
probably benign |
Het |
| Or10am5 |
T |
C |
7: 6,517,682 (GRCm39) |
T249A |
probably damaging |
Het |
| Or11g7 |
C |
T |
14: 50,691,442 (GRCm39) |
T311I |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,013 (GRCm39) |
M85L |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,621,628 (GRCm39) |
Y423H |
probably damaging |
Het |
| Pomgnt2 |
A |
G |
9: 121,811,956 (GRCm39) |
L275P |
probably damaging |
Het |
| Ptprj |
T |
G |
2: 90,298,808 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,053,156 (GRCm39) |
I931T |
probably damaging |
Het |
| Rad51b |
C |
T |
12: 79,371,856 (GRCm39) |
Q190* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,967 (GRCm39) |
I36T |
probably damaging |
Het |
| Tagap1 |
T |
C |
17: 7,223,781 (GRCm39) |
H305R |
probably damaging |
Het |
| Tmem154 |
A |
G |
3: 84,591,508 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,457,682 (GRCm39) |
E105G |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,798,241 (GRCm39) |
C2055F |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,052,963 (GRCm39) |
N277S |
probably damaging |
Het |
|
| Other mutations in Itga5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00914:Itga5
|
APN |
15 |
103,258,799 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01102:Itga5
|
APN |
15 |
103,255,102 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01474:Itga5
|
APN |
15 |
103,262,697 (GRCm39) |
nonsense |
probably null |
|
|
IGL01768:Itga5
|
APN |
15 |
103,259,997 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01832:Itga5
|
APN |
15 |
103,264,376 (GRCm39) |
nonsense |
probably null |
|
|
IGL02188:Itga5
|
APN |
15 |
103,256,144 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02701:Itga5
|
APN |
15 |
103,256,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02838:Itga5
|
APN |
15 |
103,260,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Itga5
|
UTSW |
15 |
103,264,742 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0845:Itga5
|
UTSW |
15 |
103,259,196 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1210:Itga5
|
UTSW |
15 |
103,265,900 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1522:Itga5
|
UTSW |
15 |
103,265,209 (GRCm39) |
nonsense |
probably null |
|
|
R1576:Itga5
|
UTSW |
15 |
103,260,044 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1666:Itga5
|
UTSW |
15 |
103,256,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1808:Itga5
|
UTSW |
15 |
103,258,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Itga5
|
UTSW |
15 |
103,254,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Itga5
|
UTSW |
15 |
103,262,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Itga5
|
UTSW |
15 |
103,260,684 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4458:Itga5
|
UTSW |
15 |
103,258,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Itga5
|
UTSW |
15 |
103,259,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Itga5
|
UTSW |
15 |
103,265,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Itga5
|
UTSW |
15 |
103,256,187 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4796:Itga5
|
UTSW |
15 |
103,256,187 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4837:Itga5
|
UTSW |
15 |
103,262,511 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4929:Itga5
|
UTSW |
15 |
103,261,662 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5896:Itga5
|
UTSW |
15 |
103,259,514 (GRCm39) |
missense |
probably benign |
|
|
R5947:Itga5
|
UTSW |
15 |
103,265,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Itga5
|
UTSW |
15 |
103,259,856 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6153:Itga5
|
UTSW |
15 |
103,265,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6353:Itga5
|
UTSW |
15 |
103,260,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6657:Itga5
|
UTSW |
15 |
103,259,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Itga5
|
UTSW |
15 |
103,259,808 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6891:Itga5
|
UTSW |
15 |
103,265,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6981:Itga5
|
UTSW |
15 |
103,258,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7574:Itga5
|
UTSW |
15 |
103,258,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Itga5
|
UTSW |
15 |
103,258,184 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7813:Itga5
|
UTSW |
15 |
103,265,741 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7984:Itga5
|
UTSW |
15 |
103,264,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation