Incidental Mutation 'R0106:Myo1a'
| ID |
93736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
038392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R0106 (G1)
|
| Quality Score |
43 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127555749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 913
(I913V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
[ENSMUST00000179960]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: I913V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: I913V
| 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: ENSMUST00000219882
|
| Meta Mutation Damage Score |
0.0887 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
100% (84/84) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730018C14Rik |
A |
T |
12: 112,381,628 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb9 |
T |
C |
5: 124,221,123 (GRCm39) |
N276S |
possibly damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,019,879 (GRCm39) |
|
probably null |
Het |
| Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
| Aspm |
C |
A |
1: 139,404,614 (GRCm39) |
Q1315K |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,170,378 (GRCm39) |
S243P |
probably benign |
Het |
| Brf1 |
A |
G |
12: 112,937,083 (GRCm39) |
|
probably benign |
Het |
| Card19 |
A |
C |
13: 49,361,621 (GRCm39) |
D3E |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,809,822 (GRCm39) |
F1480L |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,408,550 (GRCm39) |
I915T |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,446,185 (GRCm39) |
I1836N |
probably damaging |
Het |
| Cpb1 |
T |
C |
3: 20,320,697 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
G |
17: 25,191,350 (GRCm39) |
V1037A |
probably benign |
Het |
| Cspg5 |
C |
A |
9: 110,075,600 (GRCm39) |
P112Q |
probably damaging |
Het |
| Cyp2g1 |
T |
A |
7: 26,513,607 (GRCm39) |
I182N |
probably damaging |
Het |
| Dscc1 |
C |
A |
15: 54,946,966 (GRCm39) |
C253F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,090,318 (GRCm39) |
F956L |
probably benign |
Het |
| Ephb6 |
T |
C |
6: 41,596,528 (GRCm39) |
|
probably benign |
Het |
| Firrm |
T |
C |
1: 163,810,380 (GRCm39) |
|
probably benign |
Het |
| Fkbp6 |
C |
T |
5: 135,368,858 (GRCm39) |
R234Q |
probably benign |
Het |
| Gda |
T |
C |
19: 21,374,920 (GRCm39) |
D332G |
probably benign |
Het |
| Ggt7 |
C |
T |
2: 155,336,813 (GRCm39) |
A560T |
possibly damaging |
Het |
| Glis3 |
A |
T |
19: 28,509,268 (GRCm39) |
S239T |
possibly damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,644 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M5 |
A |
G |
17: 37,300,034 (GRCm39) |
F47L |
possibly damaging |
Het |
| Hsdl1 |
T |
A |
8: 120,292,517 (GRCm39) |
S254C |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,673,677 (GRCm39) |
I18F |
probably benign |
Het |
| Immt |
A |
G |
6: 71,828,828 (GRCm39) |
S128G |
probably benign |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,978,823 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,407,662 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
A |
T |
12: 69,752,563 (GRCm39) |
Y239* |
probably null |
Het |
| Lama3 |
T |
C |
18: 12,537,039 (GRCm39) |
V228A |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,224,550 (GRCm39) |
T405A |
probably damaging |
Het |
| Lpin1 |
A |
T |
12: 16,590,980 (GRCm39) |
N817K |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,269,996 (GRCm39) |
K740E |
probably damaging |
Het |
| Mapk12 |
T |
C |
15: 89,017,187 (GRCm39) |
|
probably benign |
Het |
| Mdga2 |
A |
T |
12: 66,763,480 (GRCm39) |
N205K |
probably damaging |
Het |
| Nat10 |
A |
G |
2: 103,587,550 (GRCm39) |
V55A |
probably damaging |
Het |
| Nlrp10 |
T |
C |
7: 108,524,529 (GRCm39) |
E317G |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,687,056 (GRCm39) |
I72T |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,720 (GRCm39) |
I256V |
probably benign |
Het |
| Or8d6 |
GC |
G |
9: 39,854,119 (GRCm39) |
|
probably null |
Het |
| Pappa2 |
C |
T |
1: 158,542,547 (GRCm39) |
C1780Y |
probably damaging |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,580 (GRCm39) |
M65V |
probably benign |
Het |
| Plec |
C |
T |
15: 76,060,518 (GRCm39) |
E3162K |
probably damaging |
Het |
| Pnisr |
T |
C |
4: 21,874,617 (GRCm39) |
|
probably benign |
Het |
| Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
| Prss34 |
A |
T |
17: 25,517,700 (GRCm39) |
D25V |
probably damaging |
Het |
| Ptpn1 |
T |
C |
2: 167,818,338 (GRCm39) |
|
probably benign |
Het |
| Pygb |
A |
G |
2: 150,648,123 (GRCm39) |
D119G |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,540,839 (GRCm39) |
T4A |
possibly damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,326,570 (GRCm39) |
C166R |
probably benign |
Het |
| Rbm28 |
C |
A |
6: 29,127,802 (GRCm39) |
V705L |
probably benign |
Het |
| Rgs1 |
C |
T |
1: 144,124,287 (GRCm39) |
V50M |
probably benign |
Het |
| Rgs12 |
C |
T |
5: 35,124,008 (GRCm39) |
T597I |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,018,363 (GRCm39) |
N765S |
possibly damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,450,182 (GRCm39) |
R58G |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,446,115 (GRCm39) |
|
probably benign |
Het |
| Serpinb10 |
T |
A |
1: 107,474,474 (GRCm39) |
L212Q |
probably damaging |
Het |
| Slc6a7 |
A |
G |
18: 61,135,295 (GRCm39) |
V411A |
probably benign |
Het |
| Slco1a6 |
A |
T |
6: 142,103,116 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,955,020 (GRCm39) |
D1077E |
probably damaging |
Het |
| Srek1 |
G |
A |
13: 103,880,131 (GRCm39) |
H476Y |
unknown |
Het |
| Strn3 |
A |
G |
12: 51,668,571 (GRCm39) |
V673A |
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,982,637 (GRCm39) |
|
probably null |
Het |
| Timmdc1 |
A |
C |
16: 38,342,724 (GRCm39) |
L58R |
probably damaging |
Het |
| Tmem132c |
T |
C |
5: 127,631,733 (GRCm39) |
V664A |
possibly damaging |
Het |
| Tmem241 |
A |
T |
18: 12,239,066 (GRCm39) |
|
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,800,277 (GRCm39) |
D602G |
probably damaging |
Het |
| Trbv15 |
T |
C |
6: 41,118,199 (GRCm39) |
|
probably benign |
Het |
| Wdr70 |
A |
T |
15: 8,049,068 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTACATCGGGCTGCAAGGG -3'
(R):5'- AGTTCAACCACATGGTCGCTCAC -3'
Sequencing Primer
(F):5'- AGGGAACCCCAAGCTGC -3'
(R):5'- AGACTGCCGATGACATCTTAG -3'
|
| Posted On |
2014-01-02 |
Incidental Mutation