Incidental Mutation 'R8815:Myo1a'
| ID |
672683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
068650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127546043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 222
(T222M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: T222M
PolyPhen 2
Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: T222M
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (70/71) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
A |
T |
1: 57,421,943 (GRCm39) |
Q106H |
probably damaging |
Het |
| Acad9 |
T |
C |
3: 36,139,590 (GRCm39) |
C397R |
probably damaging |
Het |
| Ankfn1 |
T |
G |
11: 89,282,602 (GRCm39) |
R348S |
probably damaging |
Het |
| Ankrd61 |
A |
G |
5: 143,831,336 (GRCm39) |
C28R |
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,194,548 (GRCm39) |
R94* |
probably null |
Het |
| Apela |
A |
T |
8: 65,489,590 (GRCm39) |
F10I |
unknown |
Het |
| Arhgap31 |
T |
C |
16: 38,429,790 (GRCm39) |
S362G |
probably benign |
Het |
| Arhgef18 |
C |
A |
8: 3,430,410 (GRCm39) |
H94Q |
probably benign |
Het |
| Astn2 |
A |
T |
4: 65,830,834 (GRCm39) |
L585Q |
possibly damaging |
Het |
| Atf3 |
G |
T |
1: 190,909,564 (GRCm39) |
A35D |
probably benign |
Het |
| Atp10b |
A |
T |
11: 43,093,978 (GRCm39) |
R507S |
possibly damaging |
Het |
| Brip1 |
A |
C |
11: 86,080,598 (GRCm39) |
V156G |
probably benign |
Het |
| Ccdc27 |
T |
A |
4: 154,111,205 (GRCm39) |
M636L |
probably benign |
Het |
| Ceacam5 |
T |
A |
7: 17,493,285 (GRCm39) |
N769K |
possibly damaging |
Het |
| Cklf |
C |
T |
8: 104,977,560 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,870,546 (GRCm39) |
V474M |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,673,834 (GRCm39) |
C1091* |
probably null |
Het |
| Eef1akmt4 |
T |
A |
16: 20,437,288 (GRCm39) |
I210N |
possibly damaging |
Het |
| Fbxo38 |
A |
T |
18: 62,666,587 (GRCm39) |
H195Q |
probably damaging |
Het |
| Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
| Fes |
A |
G |
7: 80,033,619 (GRCm39) |
S211P |
possibly damaging |
Het |
| Fry |
G |
T |
5: 150,317,603 (GRCm39) |
R861L |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,113,908 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,538 (GRCm39) |
W165* |
probably null |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,497,079 (GRCm39) |
V488A |
probably benign |
Het |
| Haus8 |
A |
T |
8: 71,705,910 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
T |
10: 119,948,692 (GRCm39) |
C26S |
possibly damaging |
Het |
| Icam1 |
A |
T |
9: 20,937,862 (GRCm39) |
I300F |
probably benign |
Het |
| Ip6k1 |
A |
G |
9: 107,918,211 (GRCm39) |
N181S |
probably benign |
Het |
| Itga2b |
C |
A |
11: 102,351,687 (GRCm39) |
R546L |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,476,818 (GRCm39) |
Y611N |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,640,979 (GRCm39) |
I475V |
possibly damaging |
Het |
| Lrit2 |
A |
G |
14: 36,794,487 (GRCm39) |
K517R |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,555,171 (GRCm39) |
I4085N |
|
Het |
| Lrrc32 |
T |
A |
7: 98,148,242 (GRCm39) |
S341T |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,831 (GRCm39) |
I632K |
possibly damaging |
Het |
| Mettl22 |
A |
G |
16: 8,300,178 (GRCm39) |
Q194R |
probably benign |
Het |
| Mfhas1 |
T |
A |
8: 36,057,394 (GRCm39) |
V623E |
probably damaging |
Het |
| Mitd1 |
T |
C |
1: 37,929,315 (GRCm39) |
D26G |
probably damaging |
Het |
| Naf1 |
A |
G |
8: 67,317,333 (GRCm39) |
K275R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,332,491 (GRCm39) |
L765P |
probably damaging |
Het |
| Or12k7 |
G |
T |
2: 36,958,429 (GRCm39) |
M37I |
probably benign |
Het |
| Or52a5 |
A |
G |
7: 103,427,063 (GRCm39) |
L163P |
possibly damaging |
Het |
| Or5ac16 |
T |
A |
16: 59,022,264 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or9r3 |
T |
A |
10: 129,947,808 (GRCm39) |
I284F |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,099,347 (GRCm39) |
H622R |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,055 (GRCm39) |
Y455F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,671,116 (GRCm39) |
Y220C |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,607,381 (GRCm39) |
I172T |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,853,893 (GRCm39) |
H415Q |
probably damaging |
Het |
| Pp2d1 |
A |
T |
17: 53,814,897 (GRCm39) |
M609K |
probably benign |
Het |
| Ppm1m |
G |
A |
9: 106,076,237 (GRCm39) |
|
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,215,662 (GRCm39) |
T87S |
probably benign |
Het |
| Ptprf |
C |
A |
4: 118,095,125 (GRCm39) |
V254L |
possibly damaging |
Het |
| Ripply3 |
A |
G |
16: 94,136,723 (GRCm39) |
E128G |
possibly damaging |
Het |
| Rrm2 |
A |
C |
12: 24,760,470 (GRCm39) |
I185L |
possibly damaging |
Het |
| Sbsn |
T |
A |
7: 30,454,227 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
T |
A |
4: 130,546,336 (GRCm39) |
S232T |
probably benign |
Het |
| Slx4 |
G |
C |
16: 3,803,458 (GRCm39) |
P1119A |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,221,422 (GRCm39) |
R369Q |
probably damaging |
Het |
| Speer4a3 |
A |
G |
5: 26,158,191 (GRCm39) |
S54P |
probably damaging |
Het |
| Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
| Sptbn4 |
G |
A |
7: 27,106,657 (GRCm39) |
Q924* |
probably null |
Het |
| Srcap |
G |
C |
7: 127,158,037 (GRCm39) |
D2638H |
unknown |
Het |
| Srsf12 |
T |
C |
4: 33,226,045 (GRCm39) |
S103P |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,621,185 (GRCm39) |
T335A |
possibly damaging |
Het |
| Them4 |
C |
T |
3: 94,231,610 (GRCm39) |
T149I |
probably damaging |
Het |
| Trpc7 |
T |
C |
13: 56,970,312 (GRCm39) |
Y424C |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,628,364 (GRCm39) |
D14599N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,698,244 (GRCm39) |
L186H |
|
Het |
| Usp17lc |
T |
C |
7: 103,067,524 (GRCm39) |
F273S |
probably benign |
Het |
| Vwa5b2 |
T |
C |
16: 20,419,516 (GRCm39) |
S620P |
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 |
|
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'- TCATTGTAGGAGTATGTTATCCCC -3'
(R):5'- TCTGAGAAGCCAATCACTGAC -3'
Sequencing Primer
(F):5'- TAGGAGTATGTTATCCCCAACCAAAG -3'
(R):5'- AATCACTGACATCGCATGCTTGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation