Incidental Mutation 'R0707:Myo1a'
ID |
218357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1a
|
Ensembl Gene |
ENSMUSG00000025401 |
Gene Name |
myosin IA |
Synonyms |
brush border myosin 1, BBM-I, Myhl |
MMRRC Submission |
038890-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.110)
|
Stock # |
R0707 (G1)
|
Quality Score |
28 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 127555732 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136622
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
[ENSMUST00000179960]
|
AlphaFold |
O88329 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
|
SMART Domains |
Protein: ENSMUSP00000078540 Gene: ENSMUSG00000025401
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
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
Validation Efficiency |
100% (74/74) |
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 |
Acot11 |
A |
G |
4: 106,617,329 (GRCm39) |
F259S |
probably damaging |
Het |
Aldh16a1 |
T |
A |
7: 44,793,931 (GRCm39) |
|
probably benign |
Het |
Ankrd24 |
A |
T |
10: 81,478,547 (GRCm39) |
|
probably benign |
Het |
Arhgap5 |
T |
C |
12: 52,564,951 (GRCm39) |
S641P |
probably damaging |
Het |
Arpp21 |
A |
C |
9: 111,986,824 (GRCm39) |
S242R |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
Ccdc65 |
G |
A |
15: 98,607,095 (GRCm39) |
V101I |
possibly damaging |
Het |
Ccr7 |
T |
A |
11: 99,036,809 (GRCm39) |
T38S |
probably damaging |
Het |
Cdc14a |
T |
C |
3: 116,087,362 (GRCm39) |
|
probably benign |
Het |
Ces2f |
C |
T |
8: 105,677,618 (GRCm39) |
H208Y |
possibly damaging |
Het |
Chst1 |
C |
A |
2: 92,443,964 (GRCm39) |
N145K |
possibly damaging |
Het |
Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
Cog6 |
C |
T |
3: 52,921,283 (GRCm39) |
V108I |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,287,805 (GRCm39) |
N2881K |
unknown |
Het |
Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
Dicer1 |
A |
T |
12: 104,673,144 (GRCm39) |
F792I |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,049,781 (GRCm39) |
K1780R |
probably benign |
Het |
Dph5 |
A |
C |
3: 115,708,782 (GRCm39) |
N155H |
probably benign |
Het |
Dscam |
T |
C |
16: 96,626,982 (GRCm39) |
|
probably null |
Het |
Etl4 |
C |
A |
2: 20,810,382 (GRCm39) |
|
probably benign |
Het |
Flt3l |
T |
C |
7: 44,785,450 (GRCm39) |
S9G |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,944,498 (GRCm39) |
E159G |
possibly damaging |
Het |
Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
Herc6 |
G |
A |
6: 57,639,347 (GRCm39) |
G905E |
possibly damaging |
Het |
Hhip |
T |
A |
8: 80,724,884 (GRCm39) |
N296I |
probably damaging |
Het |
Hmgcr |
A |
T |
13: 96,787,151 (GRCm39) |
|
probably benign |
Het |
Kalrn |
T |
G |
16: 33,830,951 (GRCm39) |
N723H |
possibly damaging |
Het |
Mroh5 |
T |
A |
15: 73,662,588 (GRCm39) |
Y242F |
possibly damaging |
Het |
Msh3 |
T |
A |
13: 92,483,848 (GRCm39) |
K258* |
probably null |
Het |
Nlrp4f |
C |
T |
13: 65,342,317 (GRCm39) |
E443K |
probably benign |
Het |
Nupr2 |
A |
G |
5: 129,937,533 (GRCm39) |
Y34C |
probably damaging |
Het |
Ociad1 |
T |
C |
5: 73,452,255 (GRCm39) |
|
probably benign |
Het |
Or1af1 |
A |
T |
2: 37,110,208 (GRCm39) |
K236* |
probably null |
Het |
Or5af2 |
T |
A |
11: 58,708,577 (GRCm39) |
L248M |
probably damaging |
Het |
Or5b3 |
A |
T |
19: 13,388,784 (GRCm39) |
M284L |
probably benign |
Het |
Or5p5 |
A |
G |
7: 107,414,331 (GRCm39) |
D182G |
probably damaging |
Het |
Or6ae1 |
T |
C |
7: 139,742,002 (GRCm39) |
N287S |
probably damaging |
Het |
P2ry12 |
C |
A |
3: 59,124,908 (GRCm39) |
V256F |
probably damaging |
Het |
Pcdhb22 |
T |
A |
18: 37,651,904 (GRCm39) |
I124N |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,256,375 (GRCm39) |
F622L |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,888,863 (GRCm39) |
N361K |
probably benign |
Het |
Plod2 |
T |
G |
9: 92,487,480 (GRCm39) |
L600V |
possibly damaging |
Het |
Pole |
T |
C |
5: 110,446,854 (GRCm39) |
Y631H |
probably damaging |
Het |
Proser1 |
T |
C |
3: 53,386,197 (GRCm39) |
L693P |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,875,476 (GRCm39) |
Y1195H |
probably damaging |
Het |
Rbm27 |
T |
A |
18: 42,459,091 (GRCm39) |
|
probably null |
Het |
Ric8a |
A |
G |
7: 140,437,886 (GRCm39) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
Scfd1 |
A |
T |
12: 51,459,360 (GRCm39) |
K307M |
probably damaging |
Het |
Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
Smg7 |
T |
G |
1: 152,746,508 (GRCm39) |
|
probably null |
Het |
Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
Syne3 |
A |
G |
12: 104,935,619 (GRCm39) |
L53P |
probably damaging |
Het |
Tcea1 |
T |
A |
1: 4,950,569 (GRCm39) |
|
probably benign |
Het |
Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
Trim25 |
A |
T |
11: 88,890,564 (GRCm39) |
T84S |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,746,286 (GRCm39) |
F537I |
possibly damaging |
Het |
Uaca |
G |
A |
9: 60,755,900 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
A |
5: 87,040,758 (GRCm39) |
Y388F |
possibly damaging |
Het |
Vmn2r71 |
T |
C |
7: 85,268,640 (GRCm39) |
V281A |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,882,502 (GRCm39) |
D1030E |
probably damaging |
Het |
Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
Zfp296 |
A |
G |
7: 19,313,661 (GRCm39) |
D172G |
probably benign |
Het |
Zfp977 |
C |
A |
7: 42,229,958 (GRCm39) |
C189F |
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 |
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'- TACCAAGCTGTGCCCTCCTTGATG -3'
(R):5'- TCACTCAGATGCAAGCTAAAGAGCC -3'
Sequencing Primer
(F):5'- TGATTACATCGGGCTGCAAG -3'
(R):5'- AGCTAAAGAGCCCGTCCTG -3'
|
Posted On |
2014-08-01 |