Incidental Mutation 'R8913:Myo1a'
| ID |
678772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1a
|
| Ensembl Gene |
ENSMUSG00000025401 |
| Gene Name |
myosin IA |
| Synonyms |
brush border myosin 1, BBM-I, Myhl |
| MMRRC Submission |
068702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R8913 (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 C
at 127541710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 83
(V83A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048099]
[ENSMUST00000079590]
|
| AlphaFold |
O88329 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048099
|
| SMART Domains |
Protein: ENSMUSP00000045988
Gene: ENSMUSG00000040195
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:DUF2215
|
150 |
396 |
1.2e-94 |
PFAM |
|
low complexity region
|
416 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079590
AA Change: V83A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078540
Gene: ENSMUSG00000025401
AA Change: V83A
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
96% (65/68) |
| 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 |
|---|
| Abca12 |
A |
G |
1: 71,303,972 (GRCm39) |
Y2102H |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,580 (GRCm39) |
I10F |
possibly damaging |
Het |
| Afap1l1 |
C |
T |
18: 61,889,910 (GRCm39) |
|
probably null |
Het |
| Asz1 |
T |
C |
6: 18,054,570 (GRCm39) |
D411G |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,852,830 (GRCm39) |
L144P |
|
Het |
| Atxn7l3 |
G |
T |
11: 102,185,787 (GRCm39) |
N13K |
probably damaging |
Het |
| Cap1 |
C |
A |
4: 122,761,445 (GRCm39) |
|
probably null |
Het |
| Cd244a |
T |
A |
1: 171,401,774 (GRCm39) |
Y167N |
probably damaging |
Het |
| Cd244a |
A |
T |
1: 171,401,775 (GRCm39) |
Y167F |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,088,241 (GRCm39) |
F92S |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,331,221 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
C |
A |
4: 128,417,351 (GRCm39) |
P2770T |
|
Het |
| Cyp4f40 |
G |
T |
17: 32,886,810 (GRCm39) |
D122Y |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,553,063 (GRCm39) |
E2583G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,624,602 (GRCm39) |
V3714A |
probably benign |
Het |
| Fam114a1 |
G |
T |
5: 65,185,821 (GRCm39) |
A381S |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,869 (GRCm39) |
Y317C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,891,579 (GRCm39) |
K2312R |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klhl23 |
G |
A |
2: 69,664,234 (GRCm39) |
E528K |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,982,039 (GRCm39) |
V1756A |
probably benign |
Het |
| Lcn2 |
C |
A |
2: 32,277,158 (GRCm39) |
V53F |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,785 (GRCm39) |
S1633P |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,363 (GRCm39) |
V996A |
probably benign |
Het |
| Mettl9 |
T |
G |
7: 120,675,539 (GRCm39) |
F313C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,924 (GRCm39) |
H373Q |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,947,010 (GRCm39) |
|
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,665 (GRCm39) |
T45A |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,401,564 (GRCm39) |
V40A |
possibly damaging |
Het |
| Nherf2 |
G |
A |
17: 24,863,839 (GRCm39) |
S12L |
probably benign |
Het |
| Nmt1 |
G |
T |
11: 102,948,271 (GRCm39) |
R265L |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,440 (GRCm39) |
A1008D |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,467,892 (GRCm39) |
A1334T |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,181,680 (GRCm39) |
M1114V |
|
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,809 (GRCm39) |
V184E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,274 (GRCm39) |
F73S |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,739,991 (GRCm39) |
F249L |
probably benign |
Het |
| Pdlim5 |
A |
T |
3: 141,950,666 (GRCm39) |
F582L |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,544,365 (GRCm39) |
F671L |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,947 (GRCm39) |
V725E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,362,338 (GRCm39) |
T396I |
probably damaging |
Het |
| Ptn |
C |
T |
6: 36,718,276 (GRCm39) |
D130N |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,034 (GRCm39) |
D473G |
probably benign |
Het |
| Robo1 |
A |
C |
16: 72,701,622 (GRCm39) |
I163L |
probably damaging |
Het |
| Ror1 |
A |
C |
4: 100,265,027 (GRCm39) |
D167A |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,520,595 (GRCm39) |
D709G |
|
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
C |
17: 44,919,169 (GRCm39) |
T472A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,623,094 (GRCm39) |
T582A |
probably damaging |
Het |
| Serpina3m |
C |
T |
12: 104,355,477 (GRCm39) |
A48V |
probably benign |
Het |
| Smim8 |
T |
A |
4: 34,769,056 (GRCm39) |
D76V |
possibly damaging |
Het |
| Sqor |
A |
G |
2: 122,641,806 (GRCm39) |
K260R |
probably benign |
Het |
| Syde2 |
A |
T |
3: 145,708,148 (GRCm39) |
I963F |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,188,145 (GRCm39) |
N864Y |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,351,952 (GRCm39) |
|
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,527,621 (GRCm39) |
Y68* |
probably null |
Het |
| Tmtc2 |
T |
A |
10: 105,158,887 (GRCm39) |
I569F |
probably damaging |
Het |
| Upf3a |
G |
A |
8: 13,845,728 (GRCm39) |
V276M |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,375 (GRCm39) |
V14M |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,968 (GRCm39) |
S768P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,778 (GRCm39) |
T194S |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,309,543 (GRCm39) |
M852T |
probably benign |
Het |
| Zfp207 |
T |
A |
11: 80,276,744 (GRCm39) |
D19E |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,722,699 (GRCm39) |
M1567I |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,653 (GRCm39) |
E820V |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,227,282 (GRCm39) |
C46S |
|
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 |
|
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'- AGCATCCCTCTTCCCCTGAG -3'
(R):5'- GGCATGCACAAATACTGCCA -3'
Sequencing Primer
(F):5'- CTGAGAATCCTTCCTAGACTCAG -3'
(R):5'- GTAGAAGACCTAGGTTCAGTTCCC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation