Incidental Mutation 'R2046:Itga11'
| ID |
221977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itga11
|
| Ensembl Gene |
ENSMUSG00000032243 |
| Gene Name |
integrin alpha 11 |
| Synonyms |
4732459H24Rik |
| MMRRC Submission |
040053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R2046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
62585108-62691264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62634979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 86
(L86F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034774]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034774
AA Change: L86F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034774
Gene: ENSMUSG00000032243
AA Change: L86F
| 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
|
| Meta Mutation Damage Score |
0.2122 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
97% (71/73) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,600,553 (GRCm39) |
D84V |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,218,567 (GRCm39) |
S272T |
possibly damaging |
Het |
| Adgre4 |
A |
G |
17: 56,085,847 (GRCm39) |
N49D |
possibly damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,227,212 (GRCm39) |
Y328F |
probably benign |
Het |
| Arhgef33 |
G |
C |
17: 80,680,895 (GRCm39) |
E678D |
probably benign |
Het |
| Arid2 |
G |
A |
15: 96,267,268 (GRCm39) |
V583I |
probably damaging |
Het |
| Bdkrb1 |
T |
A |
12: 105,570,985 (GRCm39) |
S184T |
probably benign |
Het |
| Bend3 |
T |
C |
10: 43,387,842 (GRCm39) |
F745S |
probably damaging |
Het |
| Card10 |
A |
T |
15: 78,671,673 (GRCm39) |
V597E |
possibly damaging |
Het |
| Casp3 |
T |
A |
8: 47,082,761 (GRCm39) |
|
probably benign |
Het |
| Ccnb2 |
A |
G |
9: 70,316,629 (GRCm39) |
V340A |
probably benign |
Het |
| Cdkl3 |
G |
T |
11: 51,917,677 (GRCm39) |
V325L |
probably benign |
Het |
| Clec4n |
T |
A |
6: 123,223,463 (GRCm39) |
N153K |
probably benign |
Het |
| Crtac1 |
C |
T |
19: 42,322,492 (GRCm39) |
V83I |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,854,659 (GRCm39) |
L14F |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,559,404 (GRCm39) |
Y519C |
probably damaging |
Het |
| Dhrs7 |
T |
G |
12: 72,699,040 (GRCm39) |
K314T |
possibly damaging |
Het |
| Dnaaf9 |
T |
A |
2: 130,652,837 (GRCm39) |
I42L |
possibly damaging |
Het |
| Dnah10 |
G |
T |
5: 124,873,405 (GRCm39) |
K2542N |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,049,591 (GRCm39) |
V731E |
probably benign |
Het |
| Dpy19l1 |
T |
A |
9: 24,334,455 (GRCm39) |
H571L |
probably damaging |
Het |
| Dzip1 |
A |
T |
14: 119,159,890 (GRCm39) |
I106N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,281,889 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,799 (GRCm39) |
Y70C |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,227,793 (GRCm39) |
F344S |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,337,482 (GRCm39) |
R612Q |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,874,787 (GRCm39) |
H850R |
probably benign |
Het |
| Fancg |
A |
G |
4: 43,004,604 (GRCm39) |
C484R |
probably damaging |
Het |
| Fzd9 |
A |
G |
5: 135,278,538 (GRCm39) |
I449T |
probably damaging |
Het |
| Gm10647 |
A |
G |
9: 66,705,519 (GRCm39) |
|
probably benign |
Het |
| Iigp1c |
T |
A |
18: 60,378,571 (GRCm39) |
H35Q |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,017,511 (GRCm39) |
R492H |
probably benign |
Het |
| Marchf6 |
A |
G |
15: 31,486,580 (GRCm39) |
V325A |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,710,526 (GRCm39) |
I47F |
probably benign |
Het |
| Nek9 |
T |
A |
12: 85,367,481 (GRCm39) |
|
probably benign |
Het |
| Nelfb |
T |
A |
2: 25,096,323 (GRCm39) |
N262I |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,799,523 (GRCm39) |
D942G |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,353,951 (GRCm39) |
P1729S |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,067,807 (GRCm39) |
T468A |
possibly damaging |
Het |
| Nrm |
G |
A |
17: 36,175,109 (GRCm39) |
V146I |
probably benign |
Het |
| Or8h9 |
C |
A |
2: 86,789,077 (GRCm39) |
A242S |
possibly damaging |
Het |
| Pitx3 |
T |
C |
19: 46,125,618 (GRCm39) |
E42G |
possibly damaging |
Het |
| Pkd1l2 |
C |
T |
8: 117,726,694 (GRCm39) |
A2271T |
probably damaging |
Het |
| Pofut2 |
A |
G |
10: 77,096,428 (GRCm39) |
N51S |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,722,103 (GRCm39) |
E273G |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,767,723 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,438,666 (GRCm39) |
I60V |
probably benign |
Het |
| Pygo2 |
T |
A |
3: 89,340,455 (GRCm39) |
N284K |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,741,945 (GRCm39) |
C1368Y |
probably damaging |
Het |
| Rbm45 |
G |
A |
2: 76,205,742 (GRCm39) |
G198E |
probably benign |
Het |
| Reln |
T |
C |
5: 22,147,625 (GRCm39) |
I2442V |
probably benign |
Het |
| Rmi1 |
T |
C |
13: 58,555,772 (GRCm39) |
V7A |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,310,884 (GRCm39) |
L538P |
probably benign |
Het |
| Rsph4a |
T |
G |
10: 33,790,539 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
T |
2: 27,105,094 (GRCm39) |
D676E |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,914 (GRCm39) |
M892V |
probably benign |
Het |
| Slc38a11 |
A |
G |
2: 65,188,529 (GRCm39) |
F80S |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,699,554 (GRCm39) |
S194* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,339,686 (GRCm39) |
F86L |
probably damaging |
Het |
| Smc3 |
G |
A |
19: 53,627,845 (GRCm39) |
D875N |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,636,786 (GRCm39) |
E575K |
possibly damaging |
Het |
| Spns2 |
A |
G |
11: 72,349,866 (GRCm39) |
L196P |
possibly damaging |
Het |
| Taf8 |
A |
G |
17: 47,801,201 (GRCm39) |
S261P |
probably benign |
Het |
| Trim2 |
A |
G |
3: 84,115,596 (GRCm39) |
L86P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,738,138 (GRCm39) |
V4134F |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,089,124 (GRCm39) |
T360A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,950,375 (GRCm39) |
C935S |
probably damaging |
Het |
| Vps37d |
T |
A |
5: 135,102,831 (GRCm39) |
M134L |
probably benign |
Het |
| Vwa2 |
T |
G |
19: 56,894,010 (GRCm39) |
V329G |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,349 (GRCm39) |
R666G |
probably benign |
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 |
|
IGL02237:Itga11
|
APN |
9 |
62,663,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTCAGCAGGAAAGTCC -3'
(R):5'- TAGTGATGCATCTCGCTGAACAG -3'
Sequencing Primer
(F):5'- GGAAAGTCCTCCACTCCGTTCTG -3'
(R):5'- CTGAACAGCAGGGAAGAGGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation