Incidental Mutation 'IGL02158:Itga7'
| ID |
282320 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga7
|
| Ensembl Gene |
ENSMUSG00000025348 |
| Gene Name |
integrin alpha 7 |
| Synonyms |
[a]7, alpha7 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.388)
|
| Stock # |
IGL02158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128769645-128794155 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128789651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 993
(L993R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026398]
[ENSMUST00000099112]
[ENSMUST00000218290]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026398
|
| SMART Domains |
Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Ubie_methyltran
|
40 |
193 |
2.8e-9 |
PFAM |
|
Pfam:Methyltransf_23
|
43 |
222 |
5.5e-20 |
PFAM |
|
Pfam:Methyltransf_31
|
68 |
225 |
1.6e-15 |
PFAM |
|
Pfam:Methyltransf_18
|
71 |
175 |
4.6e-10 |
PFAM |
|
Pfam:Methyltransf_25
|
74 |
168 |
2.3e-10 |
PFAM |
|
Pfam:Methyltransf_12
|
75 |
170 |
8.8e-16 |
PFAM |
|
Pfam:Methyltransf_11
|
75 |
172 |
1.9e-22 |
PFAM |
|
Pfam:Methyltransf_8
|
120 |
192 |
3.8e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099112
AA Change: L993R
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348
AA Change: L993R
| 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 |
possibly damaging
Transcript: ENSMUST00000218290
AA Change: L997R
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219427
AA Change: L3R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219897
|
| Coding Region Coverage |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
| Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
| Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
| Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
| Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
| Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
| Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
| Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
| Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
| Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
| Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,035,891 (GRCm39) |
|
probably benign |
Het |
| Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
| Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
| Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
| Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
| Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
| Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
| Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
| Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
| Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
| Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
| P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
| Plcb2 |
C |
A |
2: 118,541,844 (GRCm39) |
R922L |
probably benign |
Het |
| Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
| Ppp2r1b |
C |
A |
9: 50,772,909 (GRCm39) |
Q65K |
probably benign |
Het |
| Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
| Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
| St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
| Tmc7 |
G |
A |
7: 118,137,434 (GRCm39) |
R703C |
probably damaging |
Het |
| Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
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 |
|
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 |
|
R5419:Itga7
|
UTSW |
10 |
128,779,902 (GRCm39) |
missense |
probably null |
0.06 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation