Incidental Mutation 'IGL02380:Myo1a'
| ID |
291341 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL02380
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127550354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 565
(T565A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: T565A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: T565A
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
3 |
695 |
N/A |
SMART |
|
IQ
|
696 |
718 |
1.27e-3 |
SMART |
|
IQ
|
719 |
741 |
1.09e-2 |
SMART |
|
IQ
|
742 |
764 |
7.52e-6 |
SMART |
|
Pfam:Myosin_TH1
|
847 |
1035 |
1.4e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219882
|
| 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 a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice display abnormal small intestine brush border morphology, but have normal hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,643,968 (GRCm39) |
P546T |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,241,599 (GRCm39) |
I1154T |
possibly damaging |
Het |
| Abca8a |
A |
G |
11: 109,969,641 (GRCm39) |
|
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,509 (GRCm39) |
Q360L |
probably benign |
Het |
| Adamtsl5 |
T |
C |
10: 80,177,612 (GRCm39) |
E350G |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,534,125 (GRCm39) |
L1017* |
probably null |
Het |
| Aqr |
T |
C |
2: 113,940,417 (GRCm39) |
D1243G |
probably damaging |
Het |
| Arhgef17 |
G |
T |
7: 100,578,650 (GRCm39) |
P766Q |
possibly damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,201,113 (GRCm39) |
V413A |
possibly damaging |
Het |
| Bcr |
A |
G |
10: 75,011,131 (GRCm39) |
D14G |
probably benign |
Het |
| Cadps2 |
C |
T |
6: 23,287,731 (GRCm39) |
V1190I |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,856,086 (GRCm39) |
I709V |
possibly damaging |
Het |
| Cnbd1 |
C |
A |
4: 18,887,748 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
T |
A |
4: 18,887,749 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
T |
C |
1: 82,650,509 (GRCm39) |
|
probably benign |
Het |
| Coro1a |
T |
A |
7: 126,302,288 (GRCm39) |
K20* |
probably null |
Het |
| Crb2 |
T |
A |
2: 37,673,447 (GRCm39) |
D114E |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,053,623 (GRCm39) |
K2870N |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,254 (GRCm39) |
H175R |
probably benign |
Het |
| Gk5 |
T |
G |
9: 96,032,533 (GRCm39) |
S248A |
possibly damaging |
Het |
| Grm4 |
T |
A |
17: 27,653,635 (GRCm39) |
I772F |
probably damaging |
Het |
| Gstt4 |
A |
G |
10: 75,653,073 (GRCm39) |
I163T |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,795,201 (GRCm39) |
R278G |
probably damaging |
Het |
| Igfbp5 |
T |
A |
1: 72,903,108 (GRCm39) |
R156* |
probably null |
Het |
| Ighv1-4 |
G |
A |
12: 114,450,753 (GRCm39) |
|
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,873 (GRCm39) |
|
probably null |
Het |
| Kcna2 |
A |
C |
3: 107,012,274 (GRCm39) |
Q285P |
probably benign |
Het |
| Klf5 |
A |
T |
14: 99,538,894 (GRCm39) |
R102S |
possibly damaging |
Het |
| Ldb1 |
A |
T |
19: 46,022,929 (GRCm39) |
M252K |
possibly damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,787,009 (GRCm39) |
I114V |
possibly damaging |
Het |
| Map1b |
A |
T |
13: 99,567,651 (GRCm39) |
I1690N |
unknown |
Het |
| Nt5c |
T |
C |
11: 115,382,127 (GRCm39) |
D84G |
possibly damaging |
Het |
| Pde1b |
A |
G |
15: 103,428,417 (GRCm39) |
N51S |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,295,180 (GRCm39) |
L1437Q |
probably damaging |
Het |
| Pld5 |
C |
T |
1: 175,967,610 (GRCm39) |
V82I |
probably damaging |
Het |
| Psmb6 |
T |
A |
11: 70,416,737 (GRCm39) |
N42K |
probably benign |
Het |
| Slco3a1 |
G |
A |
7: 74,204,238 (GRCm39) |
S34F |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,872,046 (GRCm39) |
Y897H |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,581,033 (GRCm39) |
|
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tmem215 |
A |
T |
4: 40,474,534 (GRCm39) |
I204F |
probably benign |
Het |
| Txnl1 |
A |
G |
18: 63,807,114 (GRCm39) |
|
probably null |
Het |
| Ube2q2 |
T |
A |
9: 55,070,296 (GRCm39) |
D79E |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,658 (GRCm39) |
D122G |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,507,383 (GRCm39) |
I643K |
probably benign |
Het |
| Xkrx |
T |
A |
X: 133,051,388 (GRCm39) |
H421L |
probably benign |
Het |
|
| Other mutations in Myo1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01529:Myo1a
|
APN |
10 |
127,556,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01896:Myo1a
|
APN |
10 |
127,555,773 (GRCm39) |
missense |
probably benign |
|
|
IGL02073:Myo1a
|
APN |
10 |
127,546,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02507:Myo1a
|
APN |
10 |
127,548,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0106:Myo1a
|
UTSW |
10 |
127,555,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0326:Myo1a
|
UTSW |
10 |
127,552,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0357:Myo1a
|
UTSW |
10 |
127,546,771 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0485:Myo1a
|
UTSW |
10 |
127,555,111 (GRCm39) |
splice site |
probably benign |
|
|
R0676:Myo1a
|
UTSW |
10 |
127,555,749 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0707:Myo1a
|
UTSW |
10 |
127,555,732 (GRCm39) |
unclassified |
probably benign |
|
|
R1241:Myo1a
|
UTSW |
10 |
127,555,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1441:Myo1a
|
UTSW |
10 |
127,555,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1458:Myo1a
|
UTSW |
10 |
127,555,806 (GRCm39) |
missense |
probably benign |
|
|
R1546:Myo1a
|
UTSW |
10 |
127,548,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1692:Myo1a
|
UTSW |
10 |
127,555,203 (GRCm39) |
splice site |
probably null |
|
|
R1871:Myo1a
|
UTSW |
10 |
127,555,540 (GRCm39) |
missense |
probably benign |
|
|
R2067:Myo1a
|
UTSW |
10 |
127,541,347 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2079:Myo1a
|
UTSW |
10 |
127,556,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2151:Myo1a
|
UTSW |
10 |
127,556,050 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2375:Myo1a
|
UTSW |
10 |
127,541,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3014:Myo1a
|
UTSW |
10 |
127,552,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3741:Myo1a
|
UTSW |
10 |
127,550,767 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3812:Myo1a
|
UTSW |
10 |
127,543,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4303:Myo1a
|
UTSW |
10 |
127,549,602 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4306:Myo1a
|
UTSW |
10 |
127,549,950 (GRCm39) |
missense |
probably benign |
|
|
R4472:Myo1a
|
UTSW |
10 |
127,546,327 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4599:Myo1a
|
UTSW |
10 |
127,556,020 (GRCm39) |
splice site |
probably null |
|
|
R4604:Myo1a
|
UTSW |
10 |
127,547,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Myo1a
|
UTSW |
10 |
127,546,086 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4747:Myo1a
|
UTSW |
10 |
127,550,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4755:Myo1a
|
UTSW |
10 |
127,551,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Myo1a
|
UTSW |
10 |
127,552,178 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5072:Myo1a
|
UTSW |
10 |
127,543,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5073:Myo1a
|
UTSW |
10 |
127,543,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5074:Myo1a
|
UTSW |
10 |
127,543,288 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5386:Myo1a
|
UTSW |
10 |
127,541,766 (GRCm39) |
nonsense |
probably null |
|
|
R5592:Myo1a
|
UTSW |
10 |
127,549,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Myo1a
|
UTSW |
10 |
127,554,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6001:Myo1a
|
UTSW |
10 |
127,542,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6374:Myo1a
|
UTSW |
10 |
127,543,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Myo1a
|
UTSW |
10 |
127,551,189 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6932:Myo1a
|
UTSW |
10 |
127,546,327 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7310:Myo1a
|
UTSW |
10 |
127,541,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7395:Myo1a
|
UTSW |
10 |
127,546,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7429:Myo1a
|
UTSW |
10 |
127,542,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Myo1a
|
UTSW |
10 |
127,542,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Myo1a
|
UTSW |
10 |
127,554,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8523:Myo1a
|
UTSW |
10 |
127,547,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Myo1a
|
UTSW |
10 |
127,542,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Myo1a
|
UTSW |
10 |
127,546,856 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8815:Myo1a
|
UTSW |
10 |
127,546,043 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8862:Myo1a
|
UTSW |
10 |
127,548,653 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8913:Myo1a
|
UTSW |
10 |
127,541,710 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8917:Myo1a
|
UTSW |
10 |
127,551,534 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9020:Myo1a
|
UTSW |
10 |
127,549,992 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9429:Myo1a
|
UTSW |
10 |
127,543,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Myo1a
|
UTSW |
10 |
127,549,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Myo1a
|
UTSW |
10 |
127,542,750 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Myo1a
|
UTSW |
10 |
127,542,744 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2015-04-16 |
Incidental Mutation