Incidental Mutation 'R5957:Itga5'
ID |
471246 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itga5
|
Ensembl Gene |
ENSMUSG00000000555 |
Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
Synonyms |
Fnra, Cd49e |
MMRRC Submission |
043246-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5957 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103259856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 647
(D647G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023128
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023128]
[ENSMUST00000215331]
|
AlphaFold |
P11688 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023128
AA Change: D647G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000023128 Gene: ENSMUSG00000000555 AA Change: D647G
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.0%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,922 (GRCm39) |
T1704A |
probably benign |
Het |
Adgrg7 |
T |
A |
16: 56,593,790 (GRCm39) |
N142I |
probably damaging |
Het |
Aldh18a1 |
A |
T |
19: 40,558,981 (GRCm39) |
Y286* |
probably null |
Het |
Arpp21 |
T |
C |
9: 112,014,754 (GRCm39) |
T17A |
probably benign |
Het |
Bnip2 |
T |
C |
9: 69,906,520 (GRCm39) |
I147T |
probably damaging |
Het |
Ccr8 |
T |
C |
9: 119,922,893 (GRCm39) |
Y3H |
probably damaging |
Het |
Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
Cul7 |
G |
A |
17: 46,968,683 (GRCm39) |
G553S |
probably damaging |
Het |
Cyp21a1 |
A |
G |
17: 35,022,150 (GRCm39) |
I206T |
probably benign |
Het |
Dennd4b |
A |
G |
3: 90,178,272 (GRCm39) |
D488G |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,107,575 (GRCm39) |
L1195P |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,790,558 (GRCm39) |
V185A |
probably benign |
Het |
Dock5 |
T |
A |
14: 68,095,443 (GRCm39) |
H77L |
probably benign |
Het |
Fbxw13 |
C |
T |
9: 109,021,734 (GRCm39) |
|
probably null |
Het |
Fmnl3 |
G |
A |
15: 99,223,791 (GRCm39) |
R302W |
probably damaging |
Het |
Gbf1 |
G |
T |
19: 46,234,660 (GRCm39) |
|
probably null |
Het |
Gm4846 |
T |
C |
1: 166,314,522 (GRCm39) |
I374V |
probably benign |
Het |
Gsk3b |
C |
A |
16: 38,014,315 (GRCm39) |
P258T |
probably damaging |
Het |
Igsf5 |
T |
C |
16: 96,165,249 (GRCm39) |
V8A |
probably benign |
Het |
Il22 |
T |
A |
10: 118,041,071 (GRCm39) |
L59Q |
probably damaging |
Het |
Ildr1 |
T |
C |
16: 36,545,896 (GRCm39) |
*517Q |
probably null |
Het |
Iqca1 |
T |
A |
1: 90,008,670 (GRCm39) |
D450V |
probably damaging |
Het |
Myh7 |
T |
G |
14: 55,226,535 (GRCm39) |
N408T |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,055,266 (GRCm39) |
M564V |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,012,947 (GRCm39) |
M407K |
probably damaging |
Het |
Odad2 |
T |
C |
18: 7,285,706 (GRCm39) |
E219G |
probably benign |
Het |
Oprd1 |
C |
T |
4: 131,871,474 (GRCm39) |
V75I |
probably benign |
Het |
Poli |
G |
A |
18: 70,650,511 (GRCm39) |
H310Y |
probably benign |
Het |
Pramel19 |
T |
C |
4: 101,798,898 (GRCm39) |
F290L |
probably benign |
Het |
Ptch1 |
C |
T |
13: 63,672,929 (GRCm39) |
R755H |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,246,494 (GRCm39) |
M351K |
probably damaging |
Het |
Serpinb9b |
T |
C |
13: 33,223,831 (GRCm39) |
L341P |
possibly damaging |
Het |
Slc47a1 |
A |
G |
11: 61,235,168 (GRCm39) |
V555A |
probably benign |
Het |
Slc8a2 |
C |
A |
7: 15,879,209 (GRCm39) |
T565K |
possibly damaging |
Het |
Snx14 |
T |
C |
9: 88,285,327 (GRCm39) |
I446V |
possibly damaging |
Het |
Syde1 |
T |
C |
10: 78,425,951 (GRCm39) |
Y72C |
probably damaging |
Het |
Trim37 |
C |
T |
11: 87,036,377 (GRCm39) |
R138C |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,464,710 (GRCm39) |
S530R |
probably benign |
Het |
Vps13c |
T |
C |
9: 67,862,253 (GRCm39) |
S2957P |
probably damaging |
Het |
Wdr41 |
T |
C |
13: 95,133,695 (GRCm39) |
|
probably null |
Het |
Zyg11b |
T |
C |
4: 108,102,210 (GRCm39) |
K504E |
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 |
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 |
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'- AGAGAAACGAATGCTCCCTG -3'
(R):5'- CCACTGGCCCTAGAATGAATCAG -3'
Sequencing Primer
(F):5'- GAGAAACGAATGCTCCCTGTAGAC -3'
(R):5'- CTGGCCCTAGAATGAATCAGAATTC -3'
|
Posted On |
2017-03-31 |