Incidental Mutation 'IGL01832:Itga5'
| ID |
154804 |
| 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 # |
IGL01832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 103264376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 298
(K298*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023128
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023128]
[ENSMUST00000215331]
|
| AlphaFold |
P11688 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023128
AA Change: K298*
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: K298*
| 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 |
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
G |
A |
8: 77,985,758 (GRCm39) |
T681I |
probably benign |
Het |
| Atg4b |
T |
C |
1: 93,713,626 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,125,262 (GRCm39) |
M1076K |
probably damaging |
Het |
| Atp23 |
A |
T |
10: 126,730,214 (GRCm39) |
N111K |
probably damaging |
Het |
| Atxn2 |
C |
A |
5: 121,944,331 (GRCm39) |
Y72* |
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,323 (GRCm39) |
D220G |
probably damaging |
Het |
| C2cd3 |
A |
T |
7: 100,076,421 (GRCm39) |
T1171S |
possibly damaging |
Het |
| Ccdc15 |
G |
A |
9: 37,222,640 (GRCm39) |
R585W |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,460,414 (GRCm39) |
Y179* |
probably null |
Het |
| Cpa2 |
T |
C |
6: 30,551,998 (GRCm39) |
S242P |
probably benign |
Het |
| Ctps2 |
G |
T |
X: 161,719,699 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2nl |
A |
G |
3: 104,918,544 (GRCm39) |
S99P |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
| Erbb4 |
T |
C |
1: 68,293,725 (GRCm39) |
K722R |
possibly damaging |
Het |
| Ercc8 |
A |
G |
13: 108,305,993 (GRCm39) |
T123A |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,280,111 (GRCm39) |
V87A |
probably damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,984,195 (GRCm39) |
H182R |
probably benign |
Het |
| Gab2 |
T |
C |
7: 96,953,445 (GRCm39) |
L606P |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,568 (GRCm39) |
|
probably null |
Het |
| Hook3 |
A |
T |
8: 26,562,393 (GRCm39) |
M224K |
possibly damaging |
Het |
| Itprid2 |
G |
A |
2: 79,481,762 (GRCm39) |
V481M |
possibly damaging |
Het |
| Lrrc74a |
C |
A |
12: 86,808,488 (GRCm39) |
T422K |
probably benign |
Het |
| Myh9 |
A |
C |
15: 77,675,953 (GRCm39) |
D244E |
probably benign |
Het |
| Ndrg4 |
A |
G |
8: 96,439,947 (GRCm39) |
E349G |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,513 (GRCm39) |
D19E |
probably benign |
Het |
| Otop2 |
T |
C |
11: 115,217,769 (GRCm39) |
S202P |
probably benign |
Het |
| Plppr2 |
C |
A |
9: 21,854,742 (GRCm39) |
R138S |
possibly damaging |
Het |
| Prkaca |
A |
C |
8: 84,717,366 (GRCm39) |
K206N |
probably damaging |
Het |
| Ptpro |
C |
T |
6: 137,370,666 (GRCm39) |
T589I |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,401,700 (GRCm39) |
|
probably null |
Het |
| Slc16a5 |
T |
C |
11: 115,355,827 (GRCm39) |
V96A |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,707,620 (GRCm39) |
K1047E |
probably damaging |
Het |
| Tinag |
T |
C |
9: 76,939,038 (GRCm39) |
K147E |
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,325 (GRCm39) |
T338A |
probably damaging |
Het |
| Wdr74 |
C |
T |
19: 8,717,302 (GRCm39) |
R299C |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,892 (GRCm39) |
S1473L |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation