Incidental Mutation 'IGL02838:Itga5'
| ID |
361731 |
| 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 # |
IGL02838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103260036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 619
(A619T)
|
| 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: A619T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: A619T
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
| Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
| Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
| Gpr107 |
G |
A |
2: 31,104,329 (GRCm39) |
G545S |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,782,781 (GRCm39) |
D439G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,511 (GRCm39) |
F412L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
| Or5b116 |
T |
A |
19: 13,423,299 (GRCm39) |
S308T |
probably benign |
Het |
| Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
| Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
| Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,857,546 (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 |
|
IGL02701:Itga5
|
APN |
15 |
103,256,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2015-12-18 |
Incidental Mutation