Incidental Mutation 'IGL02701:Itga5'
ID |
304117 |
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 # |
IGL02701
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 103256193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 920
(C920G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023128]
[ENSMUST00000215331]
|
AlphaFold |
P11688 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023128
AA Change: C920G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023128 Gene: ENSMUSG00000000555 AA Change: C920G
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 |
Arhgap21 |
A |
G |
2: 20,896,902 (GRCm39) |
C125R |
probably damaging |
Het |
Blmh |
A |
G |
11: 76,862,736 (GRCm39) |
D383G |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,416,061 (GRCm39) |
E691G |
probably damaging |
Het |
Chrm3 |
G |
A |
13: 9,928,500 (GRCm39) |
R179* |
probably null |
Het |
Cnrip1 |
A |
G |
11: 17,028,415 (GRCm39) |
T116A |
probably benign |
Het |
Csmd2 |
T |
C |
4: 128,389,934 (GRCm39) |
V2223A |
probably benign |
Het |
Dalrd3 |
T |
A |
9: 108,449,483 (GRCm39) |
V143D |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,432,375 (GRCm39) |
I886L |
probably damaging |
Het |
Dennd4a |
T |
C |
9: 64,804,635 (GRCm39) |
F1325L |
possibly damaging |
Het |
Dnmt3l |
A |
T |
10: 77,890,856 (GRCm39) |
T253S |
probably benign |
Het |
Fads2b |
A |
G |
2: 85,314,513 (GRCm39) |
L480P |
probably damaging |
Het |
Ftdc1 |
G |
A |
16: 58,436,170 (GRCm39) |
S51L |
probably benign |
Het |
Gde1 |
T |
A |
7: 118,297,860 (GRCm39) |
T9S |
probably damaging |
Het |
Ggcx |
T |
A |
6: 72,395,455 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,284,485 (GRCm39) |
A3481V |
probably damaging |
Het |
Igf1r |
T |
C |
7: 67,850,997 (GRCm39) |
Y931H |
possibly damaging |
Het |
Ighv12-3 |
A |
C |
12: 114,330,421 (GRCm39) |
S25A |
probably damaging |
Het |
Kmt5b |
A |
G |
19: 3,846,681 (GRCm39) |
D118G |
probably benign |
Het |
Lrp1b |
T |
G |
2: 41,136,029 (GRCm39) |
N1647T |
possibly damaging |
Het |
Lrrc71 |
T |
C |
3: 87,649,079 (GRCm39) |
E363G |
probably benign |
Het |
Mapk1 |
A |
G |
16: 16,833,770 (GRCm39) |
Y41C |
probably benign |
Het |
Mib1 |
T |
C |
18: 10,747,357 (GRCm39) |
V178A |
probably damaging |
Het |
Or13c7d |
A |
G |
4: 43,770,366 (GRCm39) |
I215T |
probably benign |
Het |
Or5m10b |
A |
G |
2: 85,699,802 (GRCm39) |
I289V |
probably benign |
Het |
Or5p52 |
A |
T |
7: 107,502,649 (GRCm39) |
T242S |
probably benign |
Het |
Plb1 |
T |
C |
5: 32,521,541 (GRCm39) |
V1464A |
unknown |
Het |
Plekhg5 |
T |
C |
4: 152,187,479 (GRCm39) |
S82P |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,494,494 (GRCm39) |
T41A |
probably benign |
Het |
Ppip5k1 |
A |
C |
2: 121,147,130 (GRCm39) |
|
probably null |
Het |
Pttg1ip2 |
A |
G |
5: 5,516,623 (GRCm39) |
|
probably null |
Het |
Rpl14 |
T |
C |
9: 120,402,639 (GRCm39) |
|
probably benign |
Het |
Slc44a2 |
T |
C |
9: 21,259,247 (GRCm39) |
F554L |
probably benign |
Het |
Slco1b2 |
T |
A |
6: 141,631,271 (GRCm39) |
V635E |
probably benign |
Het |
Sv2a |
T |
A |
3: 96,094,447 (GRCm39) |
C261S |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,903,623 (GRCm39) |
I353V |
probably benign |
Het |
Tspan4 |
G |
A |
7: 141,071,941 (GRCm39) |
V205M |
probably damaging |
Het |
Vezf1 |
A |
T |
11: 87,967,047 (GRCm39) |
R93* |
probably null |
Het |
Wwox |
T |
A |
8: 115,433,108 (GRCm39) |
V258D |
probably damaging |
Het |
Zmynd12 |
G |
T |
4: 119,301,952 (GRCm39) |
|
probably benign |
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 |
IGL02838:Itga5
|
APN |
15 |
103,260,036 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02955:Itga5
|
APN |
15 |
103,259,261 (GRCm39) |
missense |
possibly damaging |
0.48 |
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 |
2015-04-16 |