Incidental Mutation 'R9429:Myo1a'
| ID |
712820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R9429 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 127543247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 168
(D168Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079590
AA Change: D168Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: D168Y
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5930422O12Rik |
A |
T |
8: 33,919,165 (GRCm39) |
|
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam7 |
G |
C |
14: 68,771,080 (GRCm39) |
H15Q |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,567,468 (GRCm39) |
I5235N |
probably damaging |
Het |
| Adgrv1 |
A |
C |
13: 81,741,165 (GRCm39) |
C100G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,649 (GRCm39) |
T1063A |
probably benign |
Het |
| Atmin |
A |
G |
8: 117,670,307 (GRCm39) |
R48G |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,346,565 (GRCm39) |
E441G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,389,755 (GRCm39) |
V505A |
possibly damaging |
Het |
| Chd5 |
T |
C |
4: 152,447,364 (GRCm39) |
V471A |
probably damaging |
Het |
| Cma2 |
A |
G |
14: 56,210,276 (GRCm39) |
I110V |
possibly damaging |
Het |
| Cnst |
A |
C |
1: 179,432,566 (GRCm39) |
N243T |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,310,439 (GRCm39) |
N1203I |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,731,585 (GRCm39) |
H1556L |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,556 (GRCm39) |
K185N |
probably benign |
Het |
| Dnah1 |
G |
A |
14: 30,997,499 (GRCm39) |
Q2620* |
probably null |
Het |
| Dusp10 |
A |
C |
1: 183,801,091 (GRCm39) |
D286A |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,536,935 (GRCm39) |
V252A |
possibly damaging |
Het |
| Fhod1 |
A |
G |
8: 106,057,139 (GRCm39) |
L945P |
probably damaging |
Het |
| Foxh1 |
C |
T |
15: 76,553,442 (GRCm39) |
R120Q |
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,279,252 (GRCm39) |
D591G |
probably damaging |
Het |
| Gbe1 |
G |
A |
16: 70,292,203 (GRCm39) |
V512I |
probably benign |
Het |
| Ghitm |
A |
G |
14: 36,852,655 (GRCm39) |
S142P |
probably damaging |
Het |
| Gldc |
C |
T |
19: 30,091,172 (GRCm39) |
A808T |
possibly damaging |
Het |
| Gm14496 |
C |
T |
2: 181,637,934 (GRCm39) |
T336I |
possibly damaging |
Het |
| Ido2 |
T |
C |
8: 25,037,194 (GRCm39) |
T171A |
probably damaging |
Het |
| Kctd19 |
A |
T |
8: 106,109,652 (GRCm39) |
I930N |
probably damaging |
Het |
| Kctd2 |
T |
C |
11: 115,318,277 (GRCm39) |
Y187H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,124,203 (GRCm39) |
T246A |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,118,449 (GRCm39) |
M2554V |
|
Het |
| Laptm5 |
A |
G |
4: 130,655,961 (GRCm39) |
Y93C |
|
Het |
| Mroh2b |
T |
A |
15: 4,963,907 (GRCm39) |
L833Q |
probably damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,193,424 (GRCm39) |
D187G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,098 (GRCm39) |
T1866I |
unknown |
Het |
| Nek1 |
C |
T |
8: 61,559,892 (GRCm39) |
S1005L |
probably benign |
Het |
| Nrg1 |
T |
A |
8: 32,308,592 (GRCm39) |
M523L |
probably benign |
Het |
| Nt5c2 |
T |
A |
19: 46,877,459 (GRCm39) |
H494L |
probably benign |
Het |
| Oasl2 |
G |
A |
5: 115,043,040 (GRCm39) |
V271I |
probably benign |
Het |
| Or13a1 |
T |
G |
6: 116,471,292 (GRCm39) |
S241A |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,861,871 (GRCm39) |
A268V |
possibly damaging |
Het |
| Or5e1 |
G |
T |
7: 108,354,412 (GRCm39) |
M116I |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,351,489 (GRCm39) |
T1006A |
probably benign |
Het |
| Phyhd1 |
C |
A |
2: 30,156,917 (GRCm39) |
F19L |
probably benign |
Het |
| Pter |
T |
A |
2: 12,985,112 (GRCm39) |
D147E |
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,598,900 (GRCm39) |
L90V |
probably damaging |
Het |
| Rrp15 |
A |
T |
1: 186,481,368 (GRCm39) |
D46E |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,459 (GRCm39) |
F789L |
probably damaging |
Het |
| Sepsecs |
T |
C |
5: 52,801,294 (GRCm39) |
K456R |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,321,397 (GRCm39) |
|
probably null |
Het |
| Sowahb |
T |
C |
5: 93,191,080 (GRCm39) |
I546M |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,336 (GRCm39) |
T828K |
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,034 (GRCm39) |
T147A |
probably benign |
Het |
| Tcf3 |
G |
A |
10: 80,252,436 (GRCm39) |
P350S |
probably benign |
Het |
| Tek |
A |
G |
4: 94,715,515 (GRCm39) |
D402G |
probably benign |
Het |
| Themis3 |
T |
C |
17: 66,866,665 (GRCm39) |
R192G |
probably damaging |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Trpc3 |
T |
G |
3: 36,705,777 (GRCm39) |
I473L |
probably benign |
Het |
| Ttll2 |
A |
T |
17: 7,620,085 (GRCm39) |
L4Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,750,226 (GRCm39) |
Y5* |
probably null |
Het |
| Vav3 |
T |
A |
3: 109,564,561 (GRCm39) |
Y673* |
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,237 (GRCm39) |
T180S |
probably benign |
Het |
| Vmn1r90 |
A |
T |
7: 14,295,647 (GRCm39) |
N150K |
probably damaging |
Het |
| Zbed6 |
A |
C |
1: 133,585,453 (GRCm39) |
I628R |
probably damaging |
Het |
| Zfp1007 |
A |
T |
5: 109,824,334 (GRCm39) |
L372* |
probably null |
Het |
| Zfp750 |
G |
A |
11: 121,404,693 (GRCm39) |
R61C |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,703 (GRCm39) |
I125T |
probably damaging |
Het |
| Zfta |
T |
C |
19: 7,399,594 (GRCm39) |
L447P |
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 |
|
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 |
|
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'- CCTCTCGATTTGTGAGTGAACAC -3'
(R):5'- AGCAGATCCCTCCCATTCTG -3'
Sequencing Primer
(F):5'- TGTGAGTGAACACATCTGCC -3'
(R):5'- TTCTGCCCCAAGCCCCAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation