Incidental Mutation 'R8722:Myo1a'
ID |
662175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1a
|
Ensembl Gene |
ENSMUSG00000025401 |
Gene Name |
myosin IA |
Synonyms |
brush border myosin 1, BBM-I, Myhl |
MMRRC Submission |
068572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R8722 (G1)
|
Quality Score |
219.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127542707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 115
(M115T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
AlphaFold |
O88329 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079590
AA Change: M115T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078540 Gene: ENSMUSG00000025401 AA Change: M115T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
Validation Efficiency |
100% (54/54) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
G |
2: 103,823,101 (GRCm39) |
C61R |
probably benign |
Het |
4933427D14Rik |
A |
G |
11: 72,080,422 (GRCm39) |
F415L |
probably benign |
Het |
Abcc2 |
G |
A |
19: 43,825,052 (GRCm39) |
G1446D |
possibly damaging |
Het |
Acaca |
A |
T |
11: 84,229,283 (GRCm39) |
E1703D |
possibly damaging |
Het |
Acap3 |
T |
C |
4: 155,990,415 (GRCm39) |
*834Q |
probably null |
Het |
Adam22 |
A |
G |
5: 8,166,554 (GRCm39) |
S726P |
probably benign |
Het |
Adamtsl3 |
T |
C |
7: 82,244,745 (GRCm39) |
|
probably null |
Het |
Adgrg6 |
T |
A |
10: 14,296,188 (GRCm39) |
I1071F |
probably benign |
Het |
Agxt2 |
A |
T |
15: 10,373,825 (GRCm39) |
D77V |
probably benign |
Het |
Ahnak |
C |
A |
19: 8,990,710 (GRCm39) |
S3998* |
probably null |
Het |
Asns |
T |
A |
6: 7,676,085 (GRCm39) |
I462F |
probably damaging |
Het |
Barx2 |
G |
C |
9: 31,824,280 (GRCm39) |
C36W |
probably damaging |
Het |
Bnc2 |
A |
G |
4: 84,211,883 (GRCm39) |
V162A |
possibly damaging |
Het |
Bptf |
A |
G |
11: 107,022,295 (GRCm39) |
S152P |
unknown |
Het |
Brpf3 |
T |
C |
17: 29,029,510 (GRCm39) |
L490P |
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,220,568 (GRCm39) |
D1052G |
probably benign |
Het |
Ccn1 |
T |
A |
3: 145,354,584 (GRCm39) |
N109I |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,064,565 (GRCm39) |
H311R |
probably damaging |
Het |
Cenpj |
G |
A |
14: 56,772,975 (GRCm39) |
R1022C |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,969,703 (GRCm39) |
D741G |
possibly damaging |
Het |
Csmd2 |
T |
A |
4: 128,445,743 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
G |
A |
11: 117,961,283 (GRCm39) |
Q2568* |
probably null |
Het |
Dspp |
A |
G |
5: 104,326,433 (GRCm39) |
D932G |
unknown |
Het |
Dtwd2 |
T |
C |
18: 49,833,385 (GRCm39) |
T223A |
probably damaging |
Het |
Fzd8 |
A |
G |
18: 9,213,686 (GRCm39) |
N256S |
possibly damaging |
Het |
Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
Gm9936 |
T |
C |
5: 114,995,515 (GRCm39) |
Y34C |
unknown |
Het |
Gstcd |
T |
A |
3: 132,777,822 (GRCm39) |
K330* |
probably null |
Het |
Igf2bp1 |
A |
G |
11: 95,861,606 (GRCm39) |
V277A |
possibly damaging |
Het |
Kidins220 |
G |
A |
12: 25,051,593 (GRCm39) |
V332I |
probably benign |
Het |
Kif24 |
T |
C |
4: 41,394,233 (GRCm39) |
H1014R |
probably benign |
Het |
Lrrc43 |
T |
C |
5: 123,646,142 (GRCm39) |
Y639H |
possibly damaging |
Het |
Med22 |
T |
C |
2: 26,800,313 (GRCm39) |
T39A |
probably benign |
Het |
Morn3 |
T |
C |
5: 123,179,177 (GRCm39) |
Y91C |
probably damaging |
Het |
Or10w3 |
T |
C |
19: 13,704,033 (GRCm39) |
M136T |
possibly damaging |
Het |
Or1e32 |
T |
A |
11: 73,705,882 (GRCm39) |
I9F |
probably benign |
Het |
Or52n2b |
C |
T |
7: 104,565,708 (GRCm39) |
R265H |
probably benign |
Het |
Pdcl |
T |
C |
2: 37,247,317 (GRCm39) |
D24G |
probably benign |
Het |
Pde10a |
G |
A |
17: 9,163,772 (GRCm39) |
C250Y |
probably benign |
Het |
Pla2g10 |
A |
T |
16: 13,548,254 (GRCm39) |
L8M |
unknown |
Het |
Plch2 |
A |
T |
4: 155,069,860 (GRCm39) |
|
probably benign |
Het |
Ppp1r42 |
T |
C |
1: 10,055,894 (GRCm39) |
K198R |
probably benign |
Het |
Prlh |
G |
T |
1: 90,880,897 (GRCm39) |
R23L |
possibly damaging |
Het |
Ranbp2 |
C |
A |
10: 58,312,049 (GRCm39) |
T923K |
probably damaging |
Het |
Rps11 |
T |
C |
7: 44,772,616 (GRCm39) |
N65S |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,603,116 (GRCm39) |
T2463A |
probably benign |
Het |
Shank2 |
C |
T |
7: 143,729,485 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,002,518 (GRCm39) |
V166E |
probably damaging |
Het |
Slc6a9 |
C |
T |
4: 117,714,452 (GRCm39) |
R97C |
unknown |
Het |
Slpi |
A |
C |
2: 164,197,975 (GRCm39) |
M1R |
probably null |
Het |
Syne2 |
T |
A |
12: 75,972,095 (GRCm39) |
V994D |
probably benign |
Het |
Tacc3 |
T |
C |
5: 33,825,553 (GRCm39) |
Y435H |
probably damaging |
Het |
Tpgs2 |
T |
A |
18: 25,274,679 (GRCm39) |
Q132L |
probably benign |
Het |
Usp13 |
T |
A |
3: 32,956,114 (GRCm39) |
I462N |
probably benign |
Het |
Zfp281 |
C |
T |
1: 136,553,334 (GRCm39) |
A104V |
probably benign |
Het |
Zfp40 |
A |
G |
17: 23,395,157 (GRCm39) |
C477R |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCTTAACCACTCCAGCCCAG -3'
(R):5'- AGTCTGCTGACCAATGGTAGC -3'
Sequencing Primer
(F):5'- ATGTGGTGTCAGAGCTAAATGG -3'
(R):5'- CTGACCAATGGTAGCTTTTATGC -3'
|
Posted On |
2021-03-08 |