Incidental Mutation 'R6577:Myo1a'
| ID |
523546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127541039-127556809 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127551189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 678
(I678F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079590
AA Change: I678F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: I678F
| 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 |
noncoding transcript
Transcript: ENSMUST00000219882
|
| Meta Mutation Damage Score |
0.0973 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 102,691,130 (GRCm39) |
N291S |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
probably benign |
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 |
|
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'- ACGTTTCTCTTCAACAGGGCTG -3'
(R):5'- CACCTTCCATGGTCAGTGTC -3'
Sequencing Primer
(F):5'- TTCTCTTCAACAGGGCTGCAGAG -3'
(R):5'- TCTACTCTAGCAGGCCTACAGTGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation