Incidental Mutation 'IGL02237:Itga11'
| ID |
285950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Itga11
|
| Ensembl Gene |
ENSMUSG00000032243 |
| Gene Name |
integrin alpha 11 |
| Synonyms |
4732459H24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
IGL02237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
62585108-62691264 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 62663057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034774]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034774
|
| SMART Domains |
Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
| Domain | Start | End | E-Value | Type |
|---|
|
Int_alpha
|
37 |
90 |
3.9e-7 |
SMART |
|
VWA
|
162 |
350 |
2.74e-38 |
SMART |
|
Int_alpha
|
421 |
472 |
2.19e-1 |
SMART |
|
Int_alpha
|
476 |
532 |
3.75e-9 |
SMART |
|
Int_alpha
|
538 |
593 |
1.39e-12 |
SMART |
|
Int_alpha
|
600 |
654 |
1.08e0 |
SMART |
|
transmembrane domain
|
1142 |
1164 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159012
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption of this gene display dwarfism, increased mortality with age, and defective incisors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,482 (GRCm39) |
E291V |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
| Brpf1 |
C |
T |
6: 113,287,336 (GRCm39) |
P188L |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
| Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
| Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
| Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
| Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
| Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
| Gtf3c2 |
A |
T |
5: 31,316,397 (GRCm39) |
|
probably benign |
Het |
| Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
| Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
| Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
| Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
| Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
| Slc25a13 |
C |
T |
6: 6,042,646 (GRCm39) |
R586H |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
A |
9: 36,660,933 (GRCm39) |
Q293* |
probably null |
Het |
| Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
| Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
| Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
| Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Itga11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00933:Itga11
|
APN |
9 |
62,676,587 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01108:Itga11
|
APN |
9 |
62,664,903 (GRCm39) |
missense |
probably benign |
|
|
IGL01348:Itga11
|
APN |
9 |
62,651,861 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL01739:Itga11
|
APN |
9 |
62,681,399 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01918:Itga11
|
APN |
9 |
62,680,278 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02418:Itga11
|
APN |
9 |
62,651,914 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02451:Itga11
|
APN |
9 |
62,642,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sneezy
|
UTSW |
9 |
62,639,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Itga11
|
UTSW |
9 |
62,639,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Itga11
|
UTSW |
9 |
62,683,895 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0013:Itga11
|
UTSW |
9 |
62,683,895 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0032:Itga11
|
UTSW |
9 |
62,681,377 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0032:Itga11
|
UTSW |
9 |
62,681,377 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0101:Itga11
|
UTSW |
9 |
62,651,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Itga11
|
UTSW |
9 |
62,667,584 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0114:Itga11
|
UTSW |
9 |
62,642,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Itga11
|
UTSW |
9 |
62,653,251 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0310:Itga11
|
UTSW |
9 |
62,667,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Itga11
|
UTSW |
9 |
62,604,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Itga11
|
UTSW |
9 |
62,659,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0607:Itga11
|
UTSW |
9 |
62,681,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0924:Itga11
|
UTSW |
9 |
62,683,956 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1085:Itga11
|
UTSW |
9 |
62,585,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1477:Itga11
|
UTSW |
9 |
62,662,493 (GRCm39) |
missense |
probably benign |
|
|
R1647:Itga11
|
UTSW |
9 |
62,667,652 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1831:Itga11
|
UTSW |
9 |
62,689,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Itga11
|
UTSW |
9 |
62,585,231 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1934:Itga11
|
UTSW |
9 |
62,651,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Itga11
|
UTSW |
9 |
62,670,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2046:Itga11
|
UTSW |
9 |
62,634,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Itga11
|
UTSW |
9 |
62,639,486 (GRCm39) |
splice site |
probably benign |
|
|
R2922:Itga11
|
UTSW |
9 |
62,675,912 (GRCm39) |
splice site |
probably benign |
|
|
R3011:Itga11
|
UTSW |
9 |
62,604,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3158:Itga11
|
UTSW |
9 |
62,676,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3809:Itga11
|
UTSW |
9 |
62,678,664 (GRCm39) |
missense |
probably benign |
|
|
R3836:Itga11
|
UTSW |
9 |
62,676,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4051:Itga11
|
UTSW |
9 |
62,662,933 (GRCm39) |
nonsense |
probably null |
|
|
R4190:Itga11
|
UTSW |
9 |
62,639,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Itga11
|
UTSW |
9 |
62,668,870 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4511:Itga11
|
UTSW |
9 |
62,668,870 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4678:Itga11
|
UTSW |
9 |
62,642,639 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4706:Itga11
|
UTSW |
9 |
62,662,578 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4713:Itga11
|
UTSW |
9 |
62,673,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Itga11
|
UTSW |
9 |
62,684,009 (GRCm39) |
splice site |
probably null |
|
|
R4909:Itga11
|
UTSW |
9 |
62,662,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Itga11
|
UTSW |
9 |
62,659,530 (GRCm39) |
nonsense |
probably null |
|
|
R4957:Itga11
|
UTSW |
9 |
62,674,930 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Itga11
|
UTSW |
9 |
62,668,850 (GRCm39) |
nonsense |
probably null |
|
|
R5081:Itga11
|
UTSW |
9 |
62,662,478 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5265:Itga11
|
UTSW |
9 |
62,644,694 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5308:Itga11
|
UTSW |
9 |
62,663,051 (GRCm39) |
missense |
probably benign |
|
|
R5398:Itga11
|
UTSW |
9 |
62,653,205 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5717:Itga11
|
UTSW |
9 |
62,659,531 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5885:Itga11
|
UTSW |
9 |
62,670,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5996:Itga11
|
UTSW |
9 |
62,662,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6394:Itga11
|
UTSW |
9 |
62,642,548 (GRCm39) |
splice site |
probably null |
|
|
R6751:Itga11
|
UTSW |
9 |
62,675,866 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7041:Itga11
|
UTSW |
9 |
62,659,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Itga11
|
UTSW |
9 |
62,653,190 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7509:Itga11
|
UTSW |
9 |
62,689,222 (GRCm39) |
missense |
probably benign |
|
|
R7601:Itga11
|
UTSW |
9 |
62,604,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7615:Itga11
|
UTSW |
9 |
62,651,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8263:Itga11
|
UTSW |
9 |
62,604,262 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8285:Itga11
|
UTSW |
9 |
62,659,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Itga11
|
UTSW |
9 |
62,662,460 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8422:Itga11
|
UTSW |
9 |
62,674,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8469:Itga11
|
UTSW |
9 |
62,678,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8475:Itga11
|
UTSW |
9 |
62,651,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8871:Itga11
|
UTSW |
9 |
62,668,823 (GRCm39) |
nonsense |
probably null |
|
|
R8904:Itga11
|
UTSW |
9 |
62,664,893 (GRCm39) |
missense |
probably benign |
|
|
R8954:Itga11
|
UTSW |
9 |
62,676,545 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8977:Itga11
|
UTSW |
9 |
62,662,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9011:Itga11
|
UTSW |
9 |
62,662,909 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9038:Itga11
|
UTSW |
9 |
62,675,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9089:Itga11
|
UTSW |
9 |
62,678,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Itga11
|
UTSW |
9 |
62,659,678 (GRCm39) |
splice site |
probably benign |
|
|
R9327:Itga11
|
UTSW |
9 |
62,638,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9487:Itga11
|
UTSW |
9 |
62,670,171 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9794:Itga11
|
UTSW |
9 |
62,662,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation