Incidental Mutation 'R0845:Itga5'
| ID |
77342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga5
|
| Ensembl Gene |
ENSMUSG00000000555 |
| Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
| Synonyms |
Fnra, Cd49e |
| MMRRC Submission |
039024-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103259196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 744
(T744S)
|
| 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: T744S
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: T744S
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 93.2%
|
| Validation Efficiency |
96% (45/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
G |
T |
7: 28,612,855 (GRCm39) |
A116E |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,225,204 (GRCm39) |
I338V |
probably damaging |
Het |
| Akap13 |
T |
G |
7: 75,375,128 (GRCm39) |
V1920G |
probably damaging |
Het |
| Atp6v0d2 |
C |
T |
4: 19,880,055 (GRCm39) |
V281I |
probably benign |
Het |
| AW209491 |
T |
G |
13: 14,811,607 (GRCm39) |
S153R |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,069,395 (GRCm39) |
Y433* |
probably null |
Het |
| Bub1b |
A |
G |
2: 118,440,457 (GRCm39) |
H187R |
probably damaging |
Het |
| Clstn2 |
T |
A |
9: 97,452,681 (GRCm39) |
Q242L |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Comt |
T |
C |
16: 18,226,711 (GRCm39) |
Y225C |
probably damaging |
Het |
| Ctbs |
T |
A |
3: 146,160,862 (GRCm39) |
L143Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,515,489 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,194,194 (GRCm39) |
I435T |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,026,469 (GRCm39) |
F1859S |
probably damaging |
Het |
| Glud1 |
A |
G |
14: 34,051,351 (GRCm39) |
|
probably benign |
Het |
| Gm8220 |
A |
G |
14: 44,524,248 (GRCm39) |
H71R |
probably damaging |
Het |
| Gnb1l |
A |
G |
16: 18,371,223 (GRCm39) |
E238G |
probably benign |
Het |
| H2-T23 |
T |
C |
17: 36,341,475 (GRCm39) |
H332R |
probably benign |
Het |
| Larp1 |
A |
G |
11: 57,938,576 (GRCm39) |
E453G |
probably benign |
Het |
| Lrrk2 |
C |
A |
15: 91,640,165 (GRCm39) |
P1570Q |
probably benign |
Het |
| Lrsam1 |
C |
T |
2: 32,843,455 (GRCm39) |
R150Q |
possibly damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Msln |
T |
C |
17: 25,969,770 (GRCm39) |
Y320C |
probably damaging |
Het |
| Mtbp |
T |
C |
15: 55,426,486 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
G |
7: 141,404,183 (GRCm39) |
|
probably null |
Het |
| Mup21 |
A |
G |
4: 62,068,547 (GRCm39) |
S40P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,177,090 (GRCm39) |
V414A |
probably damaging |
Het |
| P2rx5 |
T |
C |
11: 73,056,400 (GRCm39) |
I108T |
probably damaging |
Het |
| Paqr9 |
T |
C |
9: 95,442,793 (GRCm39) |
L261P |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,522,980 (GRCm39) |
D29G |
probably benign |
Het |
| Phf11d |
A |
T |
14: 59,590,793 (GRCm39) |
M188K |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,809,106 (GRCm39) |
D230G |
probably benign |
Het |
| Pik3r1 |
G |
T |
13: 101,822,772 (GRCm39) |
D643E |
probably benign |
Het |
| Rnf207 |
A |
G |
4: 152,396,521 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
C |
11: 117,247,151 (GRCm39) |
|
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,401,479 (GRCm39) |
S105T |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,745,177 (GRCm39) |
S676P |
probably benign |
Het |
| Srrm4 |
C |
T |
5: 116,582,944 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
T |
A |
11: 3,869,349 (GRCm39) |
D391V |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,855,303 (GRCm39) |
T808A |
probably damaging |
Het |
| Ubqln3 |
G |
T |
7: 103,791,275 (GRCm39) |
Q272K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,139,703 (GRCm39) |
|
probably benign |
Het |
| Xpo6 |
G |
A |
7: 125,728,715 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
T |
7: 6,309,091 (GRCm39) |
K586N |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAGGAGACCACGTTGCTTTG -3'
(R):5'- GCACTGAACCTGACATTCCATGCC -3'
Sequencing Primer
(F):5'- TCCCTACCTGAGGATCTGAAAGTC -3'
(R):5'- GTACTCAGGACTTGTCAGACAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation