Incidental Mutation 'R8862:Myo1a'
| ID |
675730 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
068741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127548653 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 396
(V396M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: V396M
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: V396M
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
C |
T |
14: 54,901,172 (GRCm39) |
G685R |
probably benign |
Het |
| Ahdc1 |
T |
C |
4: 132,791,129 (GRCm39) |
F790S |
possibly damaging |
Het |
| Alg10b |
T |
C |
15: 90,109,893 (GRCm39) |
Y69H |
probably damaging |
Het |
| Amer3 |
A |
T |
1: 34,626,465 (GRCm39) |
S235C |
probably damaging |
Het |
| Ankfy1 |
G |
T |
11: 72,644,469 (GRCm39) |
S722I |
probably benign |
Het |
| Baz1a |
T |
C |
12: 55,032,624 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
G |
12: 80,804,208 (GRCm39) |
S689P |
unknown |
Het |
| Cdh24 |
C |
A |
14: 54,869,874 (GRCm39) |
R681L |
probably damaging |
Het |
| Cdk14 |
T |
G |
5: 5,060,862 (GRCm39) |
I338L |
probably benign |
Het |
| Clec2m |
T |
C |
6: 129,308,494 (GRCm39) |
T12A |
probably benign |
Het |
| Col18a1 |
G |
T |
10: 76,949,044 (GRCm39) |
S156* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,663,348 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cytip |
G |
A |
2: 58,037,887 (GRCm39) |
T159M |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,459,502 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,855,927 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dop1a |
T |
C |
9: 86,406,404 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,934 (GRCm39) |
D385E |
probably damaging |
Het |
| Efhc1 |
A |
C |
1: 21,037,573 (GRCm39) |
D250A |
|
Het |
| Epha3 |
T |
A |
16: 63,431,348 (GRCm39) |
T519S |
probably benign |
Het |
| Gas2l3 |
A |
G |
10: 89,250,282 (GRCm39) |
Y279H |
probably damaging |
Het |
| Gatd3a |
A |
G |
10: 78,005,461 (GRCm39) |
S35P |
probably damaging |
Het |
| Gemin6 |
G |
A |
17: 80,535,432 (GRCm39) |
V131I |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gnai2 |
C |
A |
9: 107,512,326 (GRCm39) |
A31S |
|
Het |
| Greb1l |
A |
G |
18: 10,555,042 (GRCm39) |
D1696G |
possibly damaging |
Het |
| Itfg2 |
T |
C |
6: 128,394,668 (GRCm39) |
E35G |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,503,921 (GRCm39) |
F244L |
probably damaging |
Het |
| Kif19b |
C |
A |
5: 140,472,534 (GRCm39) |
P686Q |
probably damaging |
Het |
| Krtap5-1 |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG |
7: 141,850,333 (GRCm39) |
|
probably benign |
Het |
| Lgals9 |
G |
T |
11: 78,860,716 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
A |
T |
3: 30,705,088 (GRCm39) |
N372I |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,910,574 (GRCm39) |
N248S |
probably damaging |
Het |
| Mipep |
T |
A |
14: 61,080,689 (GRCm39) |
C560* |
probably null |
Het |
| Myod1 |
A |
G |
7: 46,026,487 (GRCm39) |
T131A |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,647,199 (GRCm39) |
D558V |
possibly damaging |
Het |
| Odf2l |
T |
A |
3: 144,833,758 (GRCm39) |
|
probably benign |
Het |
| Or6d13 |
G |
A |
6: 116,518,186 (GRCm39) |
M257I |
probably benign |
Het |
| Plbd2 |
A |
T |
5: 120,624,728 (GRCm39) |
M480K |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,235 (GRCm39) |
F465L |
possibly damaging |
Het |
| Ppp1r15b |
A |
T |
1: 133,064,506 (GRCm39) |
I659F |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,097,510 (GRCm39) |
L1005F |
probably benign |
Het |
| Pter |
T |
C |
2: 12,985,341 (GRCm39) |
S224P |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,266,731 (GRCm39) |
I615T |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,715 (GRCm39) |
|
probably null |
Het |
| Rps2 |
A |
G |
17: 24,940,662 (GRCm39) |
T259A |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGCCG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| S1pr4 |
G |
A |
10: 81,334,533 (GRCm39) |
R314C |
probably damaging |
Het |
| Sema4f |
A |
T |
6: 82,891,081 (GRCm39) |
H575Q |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,734 (GRCm39) |
D827G |
probably damaging |
Het |
| Sox8 |
A |
T |
17: 25,787,045 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Spink2 |
C |
T |
5: 77,357,615 (GRCm39) |
D24N |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,534,099 (GRCm39) |
D3452G |
probably benign |
Het |
| Syngr2 |
G |
T |
11: 117,703,507 (GRCm39) |
D108Y |
probably damaging |
Het |
| Tardbp |
G |
A |
4: 148,702,755 (GRCm39) |
S403L |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,942,546 (GRCm39) |
S108P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,351,515 (GRCm39) |
T661A |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,006,824 (GRCm39) |
V66A |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,235,207 (GRCm39) |
L477Q |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,776,060 (GRCm39) |
C279S |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,645,712 (GRCm39) |
S14P |
probably benign |
Het |
| Zan |
T |
C |
5: 137,472,674 (GRCm39) |
T72A |
probably benign |
Het |
| Zcchc2 |
A |
G |
1: 105,958,998 (GRCm39) |
*1156W |
probably null |
Het |
| Zfp354c |
A |
T |
11: 50,708,718 (GRCm39) |
D26E |
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 |
|
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 |
|
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'- GTGAGCCATTCCTCATACTTGC -3'
(R):5'- CCATCTGGGGACAATGAGAG -3'
Sequencing Primer
(F):5'- TCTCCTTCAGGTGGGCACTG -3'
(R):5'- GACAATGAGAGGGAAATTGTGATC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation