Incidental Mutation 'IGL01529:Myo1a'
| ID |
89679 |
| 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: 0.105)
|
| Stock # |
IGL01529
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127556529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1025
(N1025D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026466]
[ENSMUST00000079590]
[ENSMUST00000179960]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026466
|
| SMART Domains |
Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurokinin_B
|
1 |
55 |
3.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: N1025D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: N1025D
| 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 |
probably benign
Transcript: ENSMUST00000179960
|
| SMART Domains |
Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurokinin_B
|
1 |
54 |
2.7e-31 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217729
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,622 (GRCm39) |
I144N |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 59,096,535 (GRCm39) |
H588Q |
probably damaging |
Het |
| Ankrd2 |
A |
G |
19: 42,028,349 (GRCm39) |
K46E |
probably damaging |
Het |
| Arhgap10 |
A |
C |
8: 78,072,920 (GRCm39) |
L513V |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,901,351 (GRCm39) |
R817L |
probably damaging |
Het |
| Asxl3 |
T |
A |
18: 22,650,712 (GRCm39) |
N900K |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,826 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,398,042 (GRCm39) |
N773D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,750,981 (GRCm39) |
|
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,808,133 (GRCm39) |
F67S |
probably damaging |
Het |
| Dolk |
T |
C |
2: 30,175,749 (GRCm39) |
T99A |
probably benign |
Het |
| Egfr |
A |
T |
11: 16,813,014 (GRCm39) |
R165W |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,172,982 (GRCm39) |
D2577V |
probably damaging |
Het |
| Hsph1 |
T |
C |
5: 149,559,499 (GRCm39) |
I15V |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,747,693 (GRCm39) |
T276A |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,926,897 (GRCm39) |
Y954C |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,602,735 (GRCm39) |
W118R |
probably damaging |
Het |
| Kcnh6 |
G |
T |
11: 105,911,522 (GRCm39) |
R636L |
probably benign |
Het |
| Klk1b16 |
G |
T |
7: 43,790,163 (GRCm39) |
K144N |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,516 (GRCm39) |
L2435I |
possibly damaging |
Het |
| Ltbp3 |
A |
G |
19: 5,797,867 (GRCm39) |
D502G |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,178,359 (GRCm39) |
N1623K |
probably benign |
Het |
| Mcm10 |
C |
A |
2: 5,013,439 (GRCm39) |
E64D |
probably benign |
Het |
| Med13l |
A |
G |
5: 118,880,400 (GRCm39) |
N1164S |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,105,450 (GRCm39) |
D14E |
probably benign |
Het |
| Or8g27 |
C |
T |
9: 39,129,427 (GRCm39) |
T258I |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,098,068 (GRCm39) |
N785D |
probably benign |
Het |
| Psmd8 |
A |
T |
7: 28,878,576 (GRCm39) |
I81N |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,225,685 (GRCm39) |
H194Y |
probably benign |
Het |
| Ryr1 |
C |
T |
7: 28,774,652 (GRCm39) |
G2330R |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,921,084 (GRCm39) |
T80A |
possibly damaging |
Het |
| Sergef |
A |
T |
7: 46,092,942 (GRCm39) |
W356R |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,660,300 (GRCm39) |
N370S |
probably damaging |
Het |
| Syde1 |
A |
G |
10: 78,426,015 (GRCm39) |
S51P |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,215,233 (GRCm39) |
D1019V |
possibly damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,493 (GRCm39) |
M265T |
probably benign |
Het |
|
| Other mutations in Myo1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01896:Myo1a
|
APN |
10 |
127,555,773 (GRCm39) |
missense |
probably benign |
|
|
IGL02073:Myo1a
|
APN |
10 |
127,546,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02380:Myo1a
|
APN |
10 |
127,550,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-12-03 |
Incidental Mutation