Incidental Mutation 'R4458:Itga5'
| ID |
330033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga5
|
| Ensembl Gene |
ENSMUSG00000000555 |
| Gene Name |
integrin alpha 5 (fibronectin receptor alpha) |
| Synonyms |
Fnra, Cd49e |
| MMRRC Submission |
041718-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4458 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
103252713-103275190 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103258630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 822
(E822K)
|
| 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: E822K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000023128
Gene: ENSMUSG00000000555
AA Change: E822K
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630076J17Rik |
G |
A |
3: 107,139,997 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
G |
7: 75,389,213 (GRCm39) |
D2377G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,801,550 (GRCm39) |
I56N |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,065,445 (GRCm39) |
I4105N |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,740 (GRCm39) |
N570K |
probably benign |
Het |
| Arid1b |
A |
T |
17: 5,293,191 (GRCm39) |
Q703L |
probably damaging |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Cad |
T |
A |
5: 31,218,570 (GRCm39) |
V499D |
probably damaging |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Celsr2 |
A |
C |
3: 108,302,313 (GRCm39) |
I2605S |
probably damaging |
Het |
| Chd6 |
T |
A |
2: 160,871,796 (GRCm39) |
Y213F |
possibly damaging |
Het |
| Clec18a |
T |
A |
8: 111,802,102 (GRCm39) |
T296S |
probably damaging |
Het |
| Crybg2 |
C |
T |
4: 133,802,205 (GRCm39) |
P1122S |
probably benign |
Het |
| Cyld |
G |
T |
8: 89,445,929 (GRCm39) |
S309I |
probably benign |
Het |
| Dctn5 |
G |
T |
7: 121,734,303 (GRCm39) |
R49L |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Erbin |
C |
A |
13: 103,970,065 (GRCm39) |
V1184F |
probably damaging |
Het |
| Ercc2 |
G |
T |
7: 19,127,771 (GRCm39) |
R406L |
probably damaging |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Flad1 |
T |
C |
3: 89,316,241 (GRCm39) |
H107R |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,378,667 (GRCm39) |
|
probably null |
Het |
| Haghl |
A |
T |
17: 26,003,994 (GRCm39) |
V30E |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,905,342 (GRCm39) |
E108D |
possibly damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,059,996 (GRCm39) |
L558Q |
probably damaging |
Het |
| Lias |
T |
C |
5: 65,551,383 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,583,502 (GRCm39) |
K434M |
possibly damaging |
Het |
| Marchf1 |
C |
A |
8: 66,908,823 (GRCm39) |
A177E |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,885,052 (GRCm39) |
I419V |
probably damaging |
Het |
| Nol6 |
A |
G |
4: 41,115,888 (GRCm39) |
L1068P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,513 (GRCm39) |
S420P |
probably damaging |
Het |
| Or10c1 |
A |
T |
17: 37,522,204 (GRCm39) |
I180N |
possibly damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,259,439 (GRCm39) |
T1299A |
probably benign |
Het |
| Prdm16 |
A |
G |
4: 154,406,765 (GRCm39) |
V1220A |
probably benign |
Het |
| Saraf |
T |
C |
8: 34,621,870 (GRCm39) |
S25P |
unknown |
Het |
| Serpine3 |
C |
A |
14: 62,911,922 (GRCm39) |
L295I |
probably damaging |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Surf6 |
T |
C |
2: 26,782,721 (GRCm39) |
E202G |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,208,527 (GRCm39) |
I99V |
possibly damaging |
Het |
| Th |
A |
T |
7: 142,450,690 (GRCm39) |
D135E |
probably benign |
Het |
| Traf1 |
A |
G |
2: 34,835,445 (GRCm39) |
Y326H |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,727,008 (GRCm39) |
A66T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Ubqlnl |
A |
G |
7: 103,798,396 (GRCm39) |
V367A |
probably benign |
Het |
| Uspl1 |
T |
A |
5: 149,150,962 (GRCm39) |
S707T |
possibly damaging |
Het |
| Utp18 |
A |
G |
11: 93,761,359 (GRCm39) |
S350P |
possibly damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn1r229 |
A |
G |
17: 21,034,894 (GRCm39) |
I46M |
probably damaging |
Het |
| Vnn3 |
T |
C |
10: 23,741,567 (GRCm39) |
Y291H |
probably benign |
Het |
| Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
| Wrn |
T |
A |
8: 33,785,026 (GRCm39) |
T692S |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,032,071 (GRCm39) |
I19T |
probably damaging |
Het |
| Zfp13 |
G |
A |
17: 23,800,150 (GRCm39) |
A36V |
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 |
|
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 |
|
|
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'- GATCCTCAGTATTCTCCAGGCC -3'
(R):5'- AAAGCAACGTGGTCTCCTTC -3'
Sequencing Primer
(F):5'- GTATTCTCCAGGCCGCCCC -3'
(R):5'- AAGCCCAGGTCTCCCTTAATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation