Incidental Mutation 'R4929:Itga5'
| ID |
381109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga5
|
| Ensembl Gene |
ENSMUSG00000000555 |
| Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
| Synonyms |
Fnra, Cd49e |
| MMRRC Submission |
042530-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4929 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103261662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 445
(V445A)
|
| 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: V445A
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: V445A
| 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 |
0.1802 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,273,467 (GRCm39) |
|
noncoding transcript |
Het |
| Abcd3 |
A |
T |
3: 121,562,395 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
C |
T |
15: 11,259,108 (GRCm39) |
R551C |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,585,315 (GRCm39) |
C818R |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,506,599 (GRCm39) |
Q842L |
probably benign |
Het |
| Aurka |
A |
T |
2: 172,212,326 (GRCm39) |
V17E |
probably benign |
Het |
| Cdh24 |
C |
T |
14: 54,870,973 (GRCm39) |
V132I |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,621,910 (GRCm39) |
D2G |
possibly damaging |
Het |
| Cntn5 |
T |
A |
9: 9,976,400 (GRCm39) |
|
probably null |
Het |
| Col10a1 |
T |
C |
10: 34,271,120 (GRCm39) |
I364T |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,254,785 (GRCm39) |
A67T |
probably benign |
Het |
| Dym |
T |
A |
18: 75,376,357 (GRCm39) |
V583E |
probably damaging |
Het |
| Efcab5 |
T |
G |
11: 76,994,209 (GRCm39) |
K1259N |
probably benign |
Het |
| Ehbp1 |
T |
G |
11: 22,189,169 (GRCm39) |
I78L |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,533 (GRCm39) |
A469S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,069,081 (GRCm39) |
D596G |
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,029 (GRCm39) |
N530S |
probably benign |
Het |
| Gm57858 |
G |
A |
3: 36,089,487 (GRCm39) |
L146F |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,361,046 (GRCm39) |
N610S |
probably benign |
Het |
| Haus6 |
T |
C |
4: 86,513,670 (GRCm39) |
I331V |
probably benign |
Het |
| Ints2 |
G |
T |
11: 86,103,479 (GRCm39) |
N1192K |
possibly damaging |
Het |
| Itga9 |
C |
A |
9: 118,636,317 (GRCm39) |
D82E |
probably damaging |
Het |
| Jam2 |
G |
A |
16: 84,619,750 (GRCm39) |
|
probably benign |
Het |
| Klhl32 |
T |
A |
4: 24,709,030 (GRCm39) |
I112F |
probably damaging |
Het |
| Lepr |
A |
G |
4: 101,672,314 (GRCm39) |
I1113V |
probably benign |
Het |
| Lrrc3b |
C |
A |
14: 15,357,888 (GRCm38) |
L239F |
probably damaging |
Het |
| Lzic |
T |
A |
4: 149,572,585 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
T |
A |
4: 155,927,118 (GRCm39) |
F351I |
probably damaging |
Het |
| Naa40 |
A |
G |
19: 7,207,347 (GRCm39) |
F126L |
probably damaging |
Het |
| Nbeal1 |
C |
T |
1: 60,277,813 (GRCm39) |
S733F |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,477,044 (GRCm39) |
T74A |
probably damaging |
Het |
| Or52x1 |
A |
G |
7: 104,853,232 (GRCm39) |
I106T |
probably damaging |
Het |
| Or5aq7 |
A |
G |
2: 86,938,527 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or5h17 |
A |
C |
16: 58,820,582 (GRCm39) |
Y178S |
probably damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,691 (GRCm39) |
V130D |
probably damaging |
Het |
| Pop4 |
A |
G |
7: 37,965,573 (GRCm39) |
C115R |
probably damaging |
Het |
| Prpf18 |
A |
T |
2: 4,629,348 (GRCm39) |
|
probably null |
Het |
| Psg16 |
G |
A |
7: 16,829,031 (GRCm39) |
R205H |
possibly damaging |
Het |
| Ptgr1 |
C |
A |
4: 58,981,879 (GRCm39) |
A53S |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,920,345 (GRCm39) |
|
noncoding transcript |
Het |
| Sox8 |
G |
A |
17: 25,789,330 (GRCm39) |
A56V |
probably benign |
Het |
| Ssr3 |
A |
G |
3: 65,295,175 (GRCm39) |
S113P |
probably damaging |
Het |
| Stx16 |
T |
C |
2: 173,938,721 (GRCm39) |
Y296H |
possibly damaging |
Het |
| Tfcp2 |
A |
T |
15: 100,426,370 (GRCm39) |
N60K |
probably benign |
Het |
| Thada |
T |
C |
17: 84,751,654 (GRCm39) |
T441A |
probably benign |
Het |
| Trf |
G |
T |
9: 103,105,074 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
T |
A |
11: 68,979,488 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,448,280 (GRCm39) |
D181E |
probably benign |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,544 (GRCm39) |
Y340N |
probably damaging |
Het |
| Wasf2 |
C |
A |
4: 132,923,170 (GRCm39) |
D493E |
unknown |
Het |
| Wdfy4 |
T |
C |
14: 32,769,213 (GRCm39) |
D2084G |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp703 |
T |
A |
8: 27,468,879 (GRCm39) |
V181E |
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 |
|
|
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 |
|
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'- TAGTTTCATGGCTCAGAGGC -3'
(R):5'- TGTCAACTAAAGTACCGGGCC -3'
Sequencing Primer
(F):5'- GCTGCCTAGAATTGCATC -3'
(R):5'- TAAAGTACCGGGCCCTCTTGAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation