Incidental Mutation 'IGL02507:Myo1a'
ID |
296398 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myo1a
|
Ensembl Gene |
ENSMUSG00000025401 |
Gene Name |
myosin IA |
Synonyms |
brush border myosin 1, BBM-I, Myhl |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL02507
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127548478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 375
(V375A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
AlphaFold |
O88329 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079590
AA Change: V375A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000078540 Gene: ENSMUSG00000025401 AA Change: V375A
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 |
|
Validation Efficiency |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,349,388 (GRCm39) |
Y3654C |
probably damaging |
Het |
Aldh1l2 |
A |
C |
10: 83,328,448 (GRCm39) |
Y756* |
probably null |
Het |
Arhgef12 |
T |
C |
9: 42,903,859 (GRCm39) |
E733G |
probably damaging |
Het |
Art5 |
A |
T |
7: 101,748,699 (GRCm39) |
M1K |
probably null |
Het |
Atp1a2 |
A |
T |
1: 172,113,338 (GRCm39) |
D448E |
probably damaging |
Het |
Atp6v1b1 |
C |
T |
6: 83,733,837 (GRCm39) |
T356I |
possibly damaging |
Het |
Celsr1 |
A |
G |
15: 85,784,889 (GRCm39) |
|
probably benign |
Het |
Cep89 |
A |
G |
7: 35,134,990 (GRCm39) |
Y686C |
probably damaging |
Het |
Cgrrf1 |
T |
A |
14: 47,090,901 (GRCm39) |
Y212* |
probably null |
Het |
Chrnb1 |
T |
C |
11: 69,675,916 (GRCm39) |
Y442C |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,007 (GRCm39) |
|
probably benign |
Het |
Clcn7 |
G |
A |
17: 25,363,443 (GRCm39) |
V40M |
probably damaging |
Het |
Cntn1 |
A |
G |
15: 92,148,860 (GRCm39) |
Y369C |
possibly damaging |
Het |
Csmd1 |
T |
C |
8: 17,584,992 (GRCm39) |
|
probably benign |
Het |
Dpy19l2 |
A |
T |
9: 24,542,563 (GRCm39) |
C446S |
probably benign |
Het |
Edem3 |
G |
A |
1: 151,687,407 (GRCm39) |
E782K |
probably benign |
Het |
Efcab15 |
T |
A |
11: 103,090,275 (GRCm39) |
Q287L |
probably damaging |
Het |
Ephb3 |
T |
A |
16: 21,039,389 (GRCm39) |
|
probably benign |
Het |
Fndc4 |
T |
C |
5: 31,452,090 (GRCm39) |
D109G |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,805,267 (GRCm39) |
V1303A |
possibly damaging |
Het |
Gcn1 |
T |
C |
5: 115,723,940 (GRCm39) |
L532P |
probably benign |
Het |
Gm5150 |
A |
G |
3: 16,017,485 (GRCm39) |
L262P |
probably damaging |
Het |
Hbb-bs |
T |
C |
7: 103,477,091 (GRCm39) |
|
probably benign |
Het |
Krt74 |
A |
G |
15: 101,669,059 (GRCm39) |
|
noncoding transcript |
Het |
Nup160 |
A |
T |
2: 90,560,079 (GRCm39) |
Q1268L |
probably benign |
Het |
Or4k42 |
G |
A |
2: 111,319,768 (GRCm39) |
T245M |
possibly damaging |
Het |
Or51ag1 |
G |
T |
7: 103,155,925 (GRCm39) |
S76* |
probably null |
Het |
Or5d16 |
G |
A |
2: 87,773,262 (GRCm39) |
R237* |
probably null |
Het |
Or9s27 |
T |
C |
1: 92,516,648 (GRCm39) |
S199P |
possibly damaging |
Het |
Pan3 |
T |
C |
5: 147,463,406 (GRCm39) |
S497P |
probably damaging |
Het |
Pex5 |
T |
C |
6: 124,390,264 (GRCm39) |
T138A |
probably benign |
Het |
Pik3ap1 |
A |
G |
19: 41,270,451 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,627,764 (GRCm39) |
H75L |
possibly damaging |
Het |
Rag2 |
A |
T |
2: 101,461,055 (GRCm39) |
H455L |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,470,351 (GRCm39) |
E159V |
probably damaging |
Het |
Rrn3 |
A |
G |
16: 13,606,721 (GRCm39) |
N109S |
probably benign |
Het |
Scn1a |
A |
T |
2: 66,108,157 (GRCm39) |
V1523D |
probably damaging |
Het |
Sec23a |
A |
G |
12: 59,053,884 (GRCm39) |
V38A |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,602,021 (GRCm39) |
T92M |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,906,067 (GRCm39) |
D1671G |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,167 (GRCm39) |
|
probably benign |
Het |
Stau2 |
A |
T |
1: 16,556,293 (GRCm39) |
I22N |
possibly damaging |
Het |
Strn3 |
A |
T |
12: 51,708,410 (GRCm39) |
Y123* |
probably null |
Het |
Tmem205 |
A |
G |
9: 21,837,607 (GRCm39) |
V13A |
possibly damaging |
Het |
Trub1 |
G |
A |
19: 57,472,009 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,568,699 (GRCm39) |
V27398A |
possibly damaging |
Het |
Vill |
A |
G |
9: 118,899,845 (GRCm39) |
E343G |
possibly damaging |
Het |
Zgpat |
T |
C |
2: 181,008,029 (GRCm39) |
F189L |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |