Incidental Mutation 'R0357:Myo1a'
| ID |
29891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
038563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127546771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 306
(M306K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: M306K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: M306K
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,778,463 (GRCm39) |
K232E |
probably benign |
Het |
| AI837181 |
C |
T |
19: 5,476,731 (GRCm39) |
T298I |
possibly damaging |
Het |
| Alox12 |
T |
C |
11: 70,133,362 (GRCm39) |
Y614C |
probably damaging |
Het |
| Amn |
A |
T |
12: 111,240,575 (GRCm39) |
|
probably null |
Het |
| Ankrd33b |
A |
G |
15: 31,305,272 (GRCm39) |
S121P |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,131,675 (GRCm39) |
Y1028C |
probably damaging |
Het |
| Asph |
C |
A |
4: 9,453,314 (GRCm39) |
R736L |
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,861,757 (GRCm39) |
|
probably null |
Het |
| Cables2 |
T |
C |
2: 179,904,025 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
T |
7: 29,414,326 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Cdh4 |
T |
C |
2: 179,489,133 (GRCm39) |
S282P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,064 (GRCm39) |
|
probably benign |
Het |
| Ctso |
A |
T |
3: 81,858,850 (GRCm39) |
|
probably benign |
Het |
| Cyp4f13 |
A |
T |
17: 33,151,625 (GRCm39) |
Y125* |
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,877,372 (GRCm39) |
L537* |
probably null |
Het |
| Ddit4l |
G |
A |
3: 137,331,946 (GRCm39) |
R104Q |
probably benign |
Het |
| Def6 |
C |
T |
17: 28,442,909 (GRCm39) |
H322Y |
probably damaging |
Het |
| Dnaaf9 |
A |
T |
2: 130,554,866 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,165,342 (GRCm39) |
N588D |
probably benign |
Het |
| Dzip1 |
T |
A |
14: 119,146,950 (GRCm39) |
I320F |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,536,934 (GRCm39) |
H319R |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,979 (GRCm39) |
E285G |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,376 (GRCm39) |
G1423E |
probably damaging |
Het |
| Foxp2 |
C |
T |
6: 15,409,839 (GRCm39) |
P480S |
probably damaging |
Het |
| Gadd45gip1 |
G |
A |
8: 85,560,762 (GRCm39) |
A126T |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,211,172 (GRCm39) |
D301N |
probably benign |
Het |
| Gm10360 |
T |
C |
6: 70,401,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6471 |
T |
A |
7: 142,387,604 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
T |
A |
13: 50,056,149 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc18 |
A |
C |
3: 96,177,104 (GRCm39) |
K13Q |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,415,244 (GRCm39) |
S1322P |
possibly damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Insrr |
A |
C |
3: 87,715,953 (GRCm39) |
|
probably null |
Het |
| Itprid1 |
T |
A |
6: 55,945,019 (GRCm39) |
M580K |
probably benign |
Het |
| Krt87 |
C |
T |
15: 101,384,900 (GRCm39) |
V399M |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,351,776 (GRCm39) |
N3708S |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,699 (GRCm39) |
V222E |
probably damaging |
Het |
| Mogat1 |
T |
C |
1: 78,488,677 (GRCm39) |
S27P |
probably benign |
Het |
| Mrgpra4 |
A |
T |
7: 47,631,574 (GRCm39) |
M9K |
probably benign |
Het |
| Mtus1 |
A |
T |
8: 41,536,563 (GRCm39) |
S384R |
possibly damaging |
Het |
| Noxa1 |
G |
T |
2: 24,975,862 (GRCm39) |
D403E |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,068,415 (GRCm39) |
V884A |
possibly damaging |
Het |
| Or10ak12 |
A |
C |
4: 118,666,614 (GRCm39) |
L149R |
probably damaging |
Het |
| Or2y1f |
A |
G |
11: 49,184,613 (GRCm39) |
N155S |
probably damaging |
Het |
| Or6k4 |
T |
A |
1: 173,964,865 (GRCm39) |
L185* |
probably null |
Het |
| Or6n1 |
T |
C |
1: 173,916,675 (GRCm39) |
V23A |
possibly damaging |
Het |
| Paxip1 |
G |
A |
5: 27,963,621 (GRCm39) |
|
probably benign |
Het |
| Paxx |
T |
A |
2: 25,350,079 (GRCm39) |
E145D |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,087,802 (GRCm39) |
V560A |
possibly damaging |
Het |
| Pheta2 |
C |
T |
15: 82,227,517 (GRCm39) |
A12V |
probably damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,946,421 (GRCm39) |
V847M |
probably benign |
Het |
| Polk |
T |
A |
13: 96,641,105 (GRCm39) |
M151L |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,060 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,771,785 (GRCm39) |
Q371R |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,155,820 (GRCm39) |
A2224V |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,266 (GRCm39) |
S169P |
possibly damaging |
Het |
| Scart1 |
T |
G |
7: 139,807,808 (GRCm39) |
C660G |
probably damaging |
Het |
| Shroom1 |
A |
G |
11: 53,356,035 (GRCm39) |
T362A |
probably damaging |
Het |
| Smarcd2 |
A |
G |
11: 106,158,158 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
C |
2: 121,896,713 (GRCm39) |
|
probably benign |
Het |
| Tcaf3 |
T |
A |
6: 42,566,761 (GRCm39) |
Y776F |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,538,364 (GRCm39) |
V1548A |
probably damaging |
Het |
| Trpv2 |
C |
T |
11: 62,481,130 (GRCm39) |
P410S |
probably damaging |
Het |
| Ube2u |
G |
T |
4: 100,338,851 (GRCm39) |
E39* |
probably null |
Het |
| Ulbp3 |
A |
T |
10: 3,070,307 (GRCm39) |
|
noncoding transcript |
Het |
| Ulbp3 |
A |
G |
10: 3,075,788 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
C |
T |
3: 64,041,320 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
TCC |
TC |
6: 123,792,369 (GRCm39) |
|
probably null |
Het |
| Wdr87-ps |
A |
T |
7: 29,235,007 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp110 |
A |
G |
7: 12,570,302 (GRCm39) |
Y43C |
probably damaging |
Het |
| Zfp605 |
A |
G |
5: 110,272,245 (GRCm39) |
T55A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCGCTGATCACTCTACTGAAGCAC -3'
(R):5'- TATTCTTTGCCAGGGCATCCCG -3'
Sequencing Primer
(F):5'- TCTGAGACGTTCAGAACCTTAGC -3'
(R):5'- ATCCCGAGCATATTGAGCCTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation