Incidental Mutation 'R5419:Itga7'
| ID |
427939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga7
|
| Ensembl Gene |
ENSMUSG00000025348 |
| Gene Name |
integrin alpha 7 |
| Synonyms |
[a]7, alpha7 |
| MMRRC Submission |
042987-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
R5419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128769645-128794155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 128779902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 480
(E480K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099112]
[ENSMUST00000099112]
[ENSMUST00000218290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099112
AA Change: E480K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: E480K
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
48 |
110 |
4.11e-6 |
SMART |
|
Int_alpha
|
259 |
312 |
3.72e-4 |
SMART |
|
Int_alpha
|
316 |
372 |
1.16e-14 |
SMART |
|
Int_alpha
|
377 |
430 |
9.21e-18 |
SMART |
|
Int_alpha
|
435 |
490 |
4.38e-1 |
SMART |
|
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa3
|
807 |
1039 |
6e-50 |
SMART |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099112
AA Change: E480K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: E480K
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
48 |
110 |
4.11e-6 |
SMART |
|
Int_alpha
|
259 |
312 |
3.72e-4 |
SMART |
|
Int_alpha
|
316 |
372 |
1.16e-14 |
SMART |
|
Int_alpha
|
377 |
430 |
9.21e-18 |
SMART |
|
Int_alpha
|
435 |
490 |
4.38e-1 |
SMART |
|
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
SCOP:d1m1xa3
|
807 |
1039 |
6e-50 |
SMART |
|
low complexity region
|
1041 |
1058 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158143
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218290
AA Change: E484K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218387
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the integrin family of cell surface proteins that mediate cellular interactions with the extracellular matrix and other cells. The encoded transmembrane protein is the alpha subunit that forms a noncovalent heterodimer with the beta subunit to form the functional integrin receptor that binds to laminin. Mice lacking the encoded protein exhibit symptoms of progressive muscular dystrophy, impaired axonal regeneration and cerebral vascular defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions of this gene display characteristics of muscular dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
| Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
| Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
| Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
| Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
| Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
| Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
| Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
| Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
| Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
probably benign |
Het |
|
| Other mutations in Itga7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Itga7
|
APN |
10 |
128,777,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL00809:Itga7
|
APN |
10 |
128,775,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01448:Itga7
|
APN |
10 |
128,785,337 (GRCm39) |
nonsense |
probably null |
|
|
IGL01675:Itga7
|
APN |
10 |
128,782,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Itga7
|
APN |
10 |
128,789,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02475:Itga7
|
APN |
10 |
128,769,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Itga7
|
APN |
10 |
128,782,687 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02946:Itga7
|
APN |
10 |
128,769,952 (GRCm39) |
missense |
probably benign |
|
|
IGL03223:Itga7
|
APN |
10 |
128,784,680 (GRCm39) |
unclassified |
probably benign |
|
|
R0662:Itga7
|
UTSW |
10 |
128,789,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0972:Itga7
|
UTSW |
10 |
128,778,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1449:Itga7
|
UTSW |
10 |
128,789,370 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1521:Itga7
|
UTSW |
10 |
128,793,680 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1597:Itga7
|
UTSW |
10 |
128,782,732 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1651:Itga7
|
UTSW |
10 |
128,784,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4718:Itga7
|
UTSW |
10 |
128,776,603 (GRCm39) |
frame shift |
probably null |
|
|
R5011:Itga7
|
UTSW |
10 |
128,785,316 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5151:Itga7
|
UTSW |
10 |
128,780,380 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5287:Itga7
|
UTSW |
10 |
128,779,027 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5907:Itga7
|
UTSW |
10 |
128,778,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Itga7
|
UTSW |
10 |
128,778,804 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6189:Itga7
|
UTSW |
10 |
128,786,272 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6263:Itga7
|
UTSW |
10 |
128,779,955 (GRCm39) |
missense |
probably benign |
|
|
R6612:Itga7
|
UTSW |
10 |
128,784,862 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6746:Itga7
|
UTSW |
10 |
128,785,341 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6850:Itga7
|
UTSW |
10 |
128,781,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7226:Itga7
|
UTSW |
10 |
128,776,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7257:Itga7
|
UTSW |
10 |
128,780,282 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7344:Itga7
|
UTSW |
10 |
128,776,798 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7456:Itga7
|
UTSW |
10 |
128,777,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7545:Itga7
|
UTSW |
10 |
128,769,775 (GRCm39) |
start gained |
probably benign |
|
|
R7643:Itga7
|
UTSW |
10 |
128,789,370 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7644:Itga7
|
UTSW |
10 |
128,789,370 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7822:Itga7
|
UTSW |
10 |
128,778,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7998:Itga7
|
UTSW |
10 |
128,770,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9417:Itga7
|
UTSW |
10 |
128,793,543 (GRCm39) |
missense |
unknown |
|
|
R9563:Itga7
|
UTSW |
10 |
128,789,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Itga7
|
UTSW |
10 |
128,778,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Itga7
|
UTSW |
10 |
128,785,032 (GRCm39) |
missense |
probably benign |
0.10 |
|
Z1176:Itga7
|
UTSW |
10 |
128,789,696 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Itga7
|
UTSW |
10 |
128,779,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTACCCAGACCTGCTTG -3'
(R):5'- GGAGACTTCTTAGCAAACAAGACTC -3'
Sequencing Primer
(F):5'- AGACCTGCTTGTGGGCTC -3'
(R):5'- TTCTTAGCAAACAAGACTCCAAAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation