Incidental Mutation 'R7429:Myo1a'
| ID |
576330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
045507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R7429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127542716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 118
(V118E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079590
AA Change: V118E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: V118E
| 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 |
0.8381 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (71/71) |
| 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 |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,028 (GRCm39) |
C60R |
unknown |
Het |
| A430033K04Rik |
A |
G |
5: 138,634,445 (GRCm39) |
D20G |
possibly damaging |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,291,626 (GRCm39) |
I27F |
probably benign |
Het |
| Abca9 |
CA |
C |
11: 110,018,252 (GRCm39) |
|
probably null |
Het |
| Ankle2 |
C |
T |
5: 110,382,384 (GRCm39) |
T120I |
possibly damaging |
Het |
| Ap2b1 |
C |
T |
11: 83,258,824 (GRCm39) |
T765I |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,245,291 (GRCm39) |
V286E |
possibly damaging |
Het |
| Brms1l |
T |
C |
12: 55,892,084 (GRCm39) |
L126P |
probably damaging |
Het |
| Btbd7 |
T |
C |
12: 102,804,039 (GRCm39) |
T334A |
probably damaging |
Het |
| Cdh18 |
T |
C |
15: 23,366,942 (GRCm39) |
V216A |
possibly damaging |
Het |
| Chka |
A |
G |
19: 3,942,787 (GRCm39) |
Y415C |
probably damaging |
Het |
| Cnih1 |
C |
T |
14: 47,017,679 (GRCm39) |
V52I |
possibly damaging |
Het |
| Cox4i1 |
T |
A |
8: 121,400,770 (GRCm39) |
M145K |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,550,341 (GRCm39) |
E692G |
probably damaging |
Het |
| Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,618,216 (GRCm39) |
S1245P |
probably damaging |
Het |
| Enpp1 |
G |
T |
10: 24,587,848 (GRCm39) |
H14Q |
probably benign |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Fam181b |
G |
A |
7: 92,729,403 (GRCm39) |
V59M |
probably benign |
Het |
| Fam184b |
G |
A |
5: 45,698,230 (GRCm39) |
T655I |
probably benign |
Het |
| Fcgr3 |
A |
G |
1: 170,885,442 (GRCm39) |
M61T |
probably benign |
Het |
| Fign |
T |
C |
2: 63,809,404 (GRCm39) |
D622G |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,063,342 (GRCm39) |
D223G |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,610 (GRCm39) |
H445R |
probably damaging |
Het |
| Gm44501 |
A |
G |
17: 40,887,517 (GRCm39) |
T12A |
probably null |
Het |
| Hnrnpll |
T |
A |
17: 80,357,276 (GRCm39) |
I247F |
probably damaging |
Het |
| Hs3st4 |
T |
C |
7: 123,996,605 (GRCm39) |
F424L |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,157 (GRCm39) |
V613E |
|
Het |
| Insig1 |
T |
C |
5: 28,280,077 (GRCm39) |
F223S |
probably damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,401,188 (GRCm39) |
E500K |
probably benign |
Het |
| Itgav |
G |
A |
2: 83,624,602 (GRCm39) |
V731M |
probably damaging |
Het |
| Lrrfip2 |
T |
G |
9: 111,014,194 (GRCm39) |
|
probably null |
Het |
| Mark4 |
C |
A |
7: 19,160,092 (GRCm39) |
G723C |
probably damaging |
Het |
| Marveld3 |
A |
G |
8: 110,675,100 (GRCm39) |
S239P |
possibly damaging |
Het |
| Mast3 |
A |
C |
8: 71,232,947 (GRCm39) |
C1122G |
probably damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,535,297 (GRCm39) |
I198M |
probably benign |
Het |
| Mup14 |
C |
T |
4: 61,259,447 (GRCm39) |
G35E |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,835,035 (GRCm39) |
T794A |
probably benign |
Het |
| Or1p1c |
T |
A |
11: 74,160,579 (GRCm39) |
D121E |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,969 (GRCm39) |
S77T |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,726,650 (GRCm39) |
*313W |
probably null |
Het |
| Pde6c |
T |
A |
19: 38,129,887 (GRCm39) |
Y266N |
probably damaging |
Het |
| Pde9a |
T |
C |
17: 31,689,680 (GRCm39) |
L435P |
probably damaging |
Het |
| Pgm1 |
T |
A |
4: 99,813,192 (GRCm39) |
M1K |
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,810,242 (GRCm39) |
Y626H |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,386,739 (GRCm39) |
N517D |
probably damaging |
Het |
| Rpap3 |
A |
T |
15: 97,586,031 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Rptor |
T |
C |
11: 119,737,654 (GRCm39) |
W576R |
probably damaging |
Het |
| Scarb2 |
T |
C |
5: 92,633,093 (GRCm39) |
I80V |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,823,011 (GRCm39) |
T251A |
probably benign |
Het |
| Sgk3 |
A |
G |
1: 9,942,483 (GRCm39) |
D85G |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,086,631 (GRCm39) |
D653G |
probably benign |
Het |
| Slc2a1 |
A |
G |
4: 118,993,510 (GRCm39) |
Y449C |
probably damaging |
Het |
| Snx13 |
T |
C |
12: 35,183,357 (GRCm39) |
V760A |
possibly damaging |
Het |
| Snx7 |
T |
C |
3: 117,630,861 (GRCm39) |
N249S |
probably benign |
Het |
| Soat2 |
C |
A |
15: 102,062,735 (GRCm39) |
H124Q |
probably damaging |
Het |
| Sugt1 |
T |
A |
14: 79,857,241 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 75,980,770 (GRCm39) |
T1509M |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,087,184 (GRCm39) |
L214* |
probably null |
Het |
| Taok2 |
T |
C |
7: 126,469,849 (GRCm39) |
Q993R |
possibly damaging |
Het |
| Tmem161b |
A |
G |
13: 84,430,866 (GRCm39) |
|
probably null |
Het |
| Tspan17 |
G |
A |
13: 54,943,785 (GRCm39) |
E213K |
probably benign |
Het |
| Ttc6 |
T |
A |
12: 57,704,888 (GRCm39) |
I631N |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,641,283 (GRCm39) |
L13574F |
probably damaging |
Het |
| U2af1l4 |
A |
G |
7: 30,262,815 (GRCm39) |
E12G |
probably benign |
Het |
| Usp39 |
T |
C |
6: 72,319,900 (GRCm39) |
Y106C |
probably damaging |
Het |
| Vmn1r185 |
A |
C |
7: 26,310,603 (GRCm39) |
F301V |
probably benign |
Het |
| Zbp1 |
T |
A |
2: 173,055,611 (GRCm39) |
K184N |
unknown |
Het |
| Zfp438 |
A |
G |
18: 5,214,139 (GRCm39) |
V273A |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,833,054 (GRCm39) |
T596A |
possibly 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 |
|
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 |
|
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'- AGTGTTCTTAACCACTCCAGC -3'
(R):5'- AGTCTGCTGACCAATGGTAGC -3'
Sequencing Primer
(F):5'- ATGTGGTGTCAGAGCTAAATGG -3'
(R):5'- CTGACCAATGGTAGCTTTTATGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation