Incidental Mutation 'R1646:Myo1h'
| ID |
173872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
039682-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1646 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 114455693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 59
(G59E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124316
AA Change: G59E
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: G59E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
692 |
N/A |
SMART |
|
IQ
|
693 |
715 |
1.21e1 |
SMART |
|
IQ
|
716 |
738 |
6.6e-2 |
SMART |
|
Pfam:Myosin_TH1
|
833 |
1015 |
5.8e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169347
AA Change: G75E
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: G75E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
692 |
N/A |
SMART |
|
IQ
|
693 |
715 |
1.21e1 |
SMART |
|
IQ
|
716 |
738 |
6.6e-2 |
SMART |
|
Pfam:Myosin_TH1
|
834 |
1013 |
2.3e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202006
AA Change: G59E
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: G59E
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
692 |
N/A |
SMART |
|
IQ
|
693 |
715 |
1.21e1 |
SMART |
|
IQ
|
716 |
738 |
6.6e-2 |
SMART |
|
Pfam:Myosin_TH1
|
834 |
1013 |
2.3e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.0766 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.8%
|
| Validation Efficiency |
96% (69/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
G |
4: 63,302,129 (GRCm39) |
I581L |
probably benign |
Het |
| Cacnb4 |
A |
G |
2: 52,364,912 (GRCm39) |
I117T |
possibly damaging |
Het |
| Capn1 |
A |
T |
19: 6,047,760 (GRCm39) |
F434L |
probably benign |
Het |
| Cbs |
T |
C |
17: 31,832,169 (GRCm39) |
T547A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,739,948 (GRCm39) |
L2557* |
probably null |
Het |
| Dach1 |
A |
G |
14: 98,406,550 (GRCm39) |
S66P |
unknown |
Het |
| Ddx31 |
T |
C |
2: 28,782,532 (GRCm39) |
V625A |
probably benign |
Het |
| Dmxl1 |
T |
G |
18: 50,095,328 (GRCm39) |
V2969G |
probably damaging |
Het |
| Eapp |
T |
A |
12: 54,732,745 (GRCm39) |
K122* |
probably null |
Het |
| Elapor1 |
A |
T |
3: 108,370,306 (GRCm39) |
S751T |
probably damaging |
Het |
| Epb41l5 |
G |
T |
1: 119,477,752 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,471,079 (GRCm39) |
S1628P |
probably damaging |
Het |
| Fgfr2 |
T |
A |
7: 129,844,374 (GRCm39) |
E37V |
probably damaging |
Het |
| Fgfr4 |
A |
T |
13: 55,313,777 (GRCm39) |
N529Y |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,808,861 (GRCm39) |
T1727S |
probably benign |
Het |
| Gak |
A |
T |
5: 108,750,720 (GRCm39) |
S397T |
probably damaging |
Het |
| Gm6040 |
T |
A |
8: 21,407,113 (GRCm39) |
I36F |
possibly damaging |
Het |
| Grhl1 |
A |
G |
12: 24,661,860 (GRCm39) |
D513G |
possibly damaging |
Het |
| Gstt1 |
T |
A |
10: 75,619,940 (GRCm39) |
D219V |
possibly damaging |
Het |
| Hcfc2 |
T |
G |
10: 82,536,861 (GRCm39) |
V91G |
probably damaging |
Het |
| Hells |
A |
T |
19: 38,956,227 (GRCm39) |
I808L |
probably benign |
Het |
| Icmt |
T |
A |
4: 152,384,172 (GRCm39) |
V110E |
possibly damaging |
Het |
| Ilrun |
A |
G |
17: 28,012,934 (GRCm39) |
S88P |
probably damaging |
Het |
| Iqca1 |
C |
T |
1: 90,067,760 (GRCm39) |
V164M |
probably damaging |
Het |
| Klri1 |
G |
A |
6: 129,680,299 (GRCm39) |
P119S |
probably benign |
Het |
| Krt71 |
C |
A |
15: 101,647,199 (GRCm39) |
|
probably null |
Het |
| Lpin1 |
A |
G |
12: 16,623,659 (GRCm39) |
|
probably null |
Het |
| Macir |
A |
T |
1: 97,573,531 (GRCm39) |
I178N |
probably damaging |
Het |
| Metap2 |
T |
C |
10: 93,706,059 (GRCm39) |
H241R |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 49,015,931 (GRCm39) |
Y1869C |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,262,594 (GRCm39) |
|
probably benign |
Het |
| Npat |
T |
C |
9: 53,466,434 (GRCm39) |
V241A |
probably benign |
Het |
| Npbwr1 |
C |
A |
1: 5,987,473 (GRCm39) |
V14L |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,014,096 (GRCm39) |
V323E |
possibly damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,040 (GRCm39) |
Q57L |
probably benign |
Het |
| Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
| Or5p59 |
C |
T |
7: 107,702,798 (GRCm39) |
T94I |
probably benign |
Het |
| Or7a35 |
C |
A |
10: 78,853,340 (GRCm39) |
Y61* |
probably null |
Het |
| Pdlim4 |
A |
T |
11: 53,947,080 (GRCm39) |
L132Q |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,875,379 (GRCm39) |
D201G |
probably benign |
Het |
| Ptk7 |
A |
T |
17: 46,897,223 (GRCm39) |
F370I |
probably benign |
Het |
| Pus7l |
T |
C |
15: 94,431,517 (GRCm39) |
N371D |
probably benign |
Het |
| Pzp |
G |
A |
6: 128,480,518 (GRCm39) |
A589V |
probably benign |
Het |
| Rasef |
T |
A |
4: 73,652,786 (GRCm39) |
R572W |
probably damaging |
Het |
| Reep5 |
T |
C |
18: 34,482,712 (GRCm39) |
T166A |
probably benign |
Het |
| Rhov |
A |
G |
2: 119,101,501 (GRCm39) |
V35A |
probably damaging |
Het |
| Ripk4 |
C |
T |
16: 97,545,097 (GRCm39) |
G517R |
probably damaging |
Het |
| Rnasel |
A |
G |
1: 153,630,800 (GRCm39) |
T439A |
probably damaging |
Het |
| Slamf9 |
A |
G |
1: 172,304,907 (GRCm39) |
T174A |
probably benign |
Het |
| Slc12a9 |
A |
G |
5: 137,321,411 (GRCm39) |
L414P |
probably damaging |
Het |
| Slf1 |
G |
A |
13: 77,214,767 (GRCm39) |
R640* |
probably null |
Het |
| Slfn8 |
G |
T |
11: 82,907,712 (GRCm39) |
P277Q |
probably damaging |
Het |
| Stpg2 |
T |
A |
3: 139,125,463 (GRCm39) |
|
probably benign |
Het |
| Tm9sf3 |
A |
C |
19: 41,211,618 (GRCm39) |
N408K |
possibly damaging |
Het |
| Trio |
A |
G |
15: 27,758,433 (GRCm39) |
V2049A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,645,077 (GRCm39) |
I11180N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,148,018 (GRCm39) |
C982R |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,164,392 (GRCm39) |
V207M |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
| Vasp |
G |
A |
7: 18,994,903 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
C |
17: 23,578,513 (GRCm39) |
F662S |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,434 (GRCm39) |
C167S |
probably damaging |
Het |
| Vmn2r71 |
C |
A |
7: 85,270,476 (GRCm39) |
N547K |
probably damaging |
Het |
| Wasf2 |
A |
G |
4: 132,903,902 (GRCm39) |
I37V |
probably benign |
Het |
| Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
| Zfp317 |
A |
G |
9: 19,558,608 (GRCm39) |
Y274C |
probably damaging |
Het |
| Zhx3 |
T |
C |
2: 160,623,195 (GRCm39) |
Y324C |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,754,862 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Myo1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Myo1h
|
APN |
5 |
114,453,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL00922:Myo1h
|
APN |
5 |
114,498,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01022:Myo1h
|
APN |
5 |
114,474,361 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01364:Myo1h
|
APN |
5 |
114,486,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01469:Myo1h
|
APN |
5 |
114,499,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01626:Myo1h
|
APN |
5 |
114,453,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02026:Myo1h
|
APN |
5 |
114,461,505 (GRCm39) |
missense |
probably null |
0.07 |
|
IGL02156:Myo1h
|
APN |
5 |
114,491,972 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Myo1h
|
APN |
5 |
114,472,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02429:Myo1h
|
APN |
5 |
114,497,799 (GRCm39) |
splice site |
probably benign |
|
|
IGL02562:Myo1h
|
APN |
5 |
114,496,053 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02938:Myo1h
|
APN |
5 |
114,497,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0056:Myo1h
|
UTSW |
5 |
114,468,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Myo1h
|
UTSW |
5 |
114,467,225 (GRCm39) |
splice site |
probably null |
|
|
R0346:Myo1h
|
UTSW |
5 |
114,493,270 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0464:Myo1h
|
UTSW |
5 |
114,498,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Myo1h
|
UTSW |
5 |
114,457,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Myo1h
|
UTSW |
5 |
114,457,741 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0751:Myo1h
|
UTSW |
5 |
114,458,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Myo1h
|
UTSW |
5 |
114,457,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1470:Myo1h
|
UTSW |
5 |
114,457,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1579:Myo1h
|
UTSW |
5 |
114,485,496 (GRCm39) |
nonsense |
probably null |
|
|
R1648:Myo1h
|
UTSW |
5 |
114,474,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Myo1h
|
UTSW |
5 |
114,491,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Myo1h
|
UTSW |
5 |
114,499,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Myo1h
|
UTSW |
5 |
114,493,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3124:Myo1h
|
UTSW |
5 |
114,466,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3195:Myo1h
|
UTSW |
5 |
114,466,801 (GRCm39) |
missense |
probably benign |
|
|
R4255:Myo1h
|
UTSW |
5 |
114,468,198 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4613:Myo1h
|
UTSW |
5 |
114,489,737 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4613:Myo1h
|
UTSW |
5 |
114,486,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4758:Myo1h
|
UTSW |
5 |
114,487,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Myo1h
|
UTSW |
5 |
114,498,660 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4785:Myo1h
|
UTSW |
5 |
114,498,660 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5511:Myo1h
|
UTSW |
5 |
114,483,958 (GRCm39) |
nonsense |
probably null |
|
|
R5663:Myo1h
|
UTSW |
5 |
114,472,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Myo1h
|
UTSW |
5 |
114,457,864 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6243:Myo1h
|
UTSW |
5 |
114,500,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6344:Myo1h
|
UTSW |
5 |
114,466,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Myo1h
|
UTSW |
5 |
114,489,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Myo1h
|
UTSW |
5 |
114,474,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Myo1h
|
UTSW |
5 |
114,453,017 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6787:Myo1h
|
UTSW |
5 |
114,458,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Myo1h
|
UTSW |
5 |
114,487,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Myo1h
|
UTSW |
5 |
114,468,221 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7040:Myo1h
|
UTSW |
5 |
114,497,805 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7101:Myo1h
|
UTSW |
5 |
114,480,258 (GRCm39) |
missense |
|
|
|
R7121:Myo1h
|
UTSW |
5 |
114,476,290 (GRCm39) |
missense |
|
|
|
R7206:Myo1h
|
UTSW |
5 |
114,457,836 (GRCm39) |
nonsense |
probably null |
|
|
R7222:Myo1h
|
UTSW |
5 |
114,493,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7838:Myo1h
|
UTSW |
5 |
114,466,872 (GRCm39) |
splice site |
probably null |
|
|
R7896:Myo1h
|
UTSW |
5 |
114,474,372 (GRCm39) |
splice site |
probably null |
|
|
R8004:Myo1h
|
UTSW |
5 |
114,458,769 (GRCm39) |
missense |
|
|
|
R8323:Myo1h
|
UTSW |
5 |
114,480,200 (GRCm39) |
missense |
|
|
|
R8874:Myo1h
|
UTSW |
5 |
114,472,163 (GRCm39) |
missense |
|
|
|
R8945:Myo1h
|
UTSW |
5 |
114,470,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Myo1h
|
UTSW |
5 |
114,499,366 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9518:Myo1h
|
UTSW |
5 |
114,497,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9527:Myo1h
|
UTSW |
5 |
114,453,098 (GRCm39) |
missense |
|
|
|
R9548:Myo1h
|
UTSW |
5 |
114,499,154 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9687:Myo1h
|
UTSW |
5 |
114,458,769 (GRCm39) |
missense |
|
|
|
R9803:Myo1h
|
UTSW |
5 |
114,483,997 (GRCm39) |
missense |
|
|
|
Z1177:Myo1h
|
UTSW |
5 |
114,472,217 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTTGTGCCTAAGCTGCCTGTC -3'
(R):5'- AACGGAAATTGGACCTGACTGGATG -3'
Sequencing Primer
(F):5'- CTTCCTCTCGGCAGAGTG -3'
(R):5'- AAATTGGACCTGACTGGATGGTATG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation