Incidental Mutation 'R1576:Itga5'
ID |
171186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga5
|
Ensembl Gene |
ENSMUSG00000000555 |
Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
Synonyms |
Fnra, Cd49e |
MMRRC Submission |
039614-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1576 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103260044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 616
(D616G)
|
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: D616G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000023128 Gene: ENSMUSG00000000555 AA Change: D616G
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: ENSMUST00000230460
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230775
|
Meta Mutation Damage Score |
0.2663 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,375,769 (GRCm39) |
L75R |
probably damaging |
Het |
Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGAGATGCTCACGGATCTCAC -3'
(R):5'- AGAAGCATGGTCACTAAGCGCCAC -3'
Sequencing Primer
(F):5'- GGCCACATATAGCTAGAGTGTCC -3'
(R):5'- CTAAGCGCCAcccaccc -3'
|
Posted On |
2014-04-13 |