Incidental Mutation 'R1648:Myo1h'
ID |
174012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1h
|
Ensembl Gene |
ENSMUSG00000066952 |
Gene Name |
myosin 1H |
Synonyms |
4631401O15Rik |
MMRRC Submission |
039684-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1648 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 114474336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 458
(L458F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
AlphaFold |
Q9D6A1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124316
AA Change: L442F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: L442F
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 damaging
Transcript: ENSMUST00000169347
AA Change: L458F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952 AA Change: L458F
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 |
probably damaging
Transcript: ENSMUST00000202006
AA Change: L442F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952 AA Change: L442F
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 |
0.1968 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.4%
|
Validation Efficiency |
95% (73/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,775,181 (GRCm39) |
N1457D |
probably benign |
Het |
Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
Akap6 |
A |
T |
12: 53,188,789 (GRCm39) |
K2068* |
probably null |
Het |
Alms1 |
T |
C |
6: 85,655,384 (GRCm39) |
L3310P |
probably damaging |
Het |
Ankrd27 |
T |
A |
7: 35,303,278 (GRCm39) |
D219E |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,434,575 (GRCm39) |
V283A |
probably damaging |
Het |
Atp11a |
C |
T |
8: 12,897,495 (GRCm39) |
S270L |
probably damaging |
Het |
Casp3 |
T |
C |
8: 47,091,109 (GRCm39) |
S254P |
probably benign |
Het |
Cep104 |
G |
A |
4: 154,063,553 (GRCm39) |
|
probably null |
Het |
Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,943,844 (GRCm39) |
E348G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,631,793 (GRCm39) |
S488G |
probably damaging |
Het |
D130040H23Rik |
C |
A |
8: 69,755,633 (GRCm39) |
H363Q |
probably benign |
Het |
Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,504 (GRCm39) |
I614V |
probably benign |
Het |
Ehbp1 |
G |
A |
11: 22,046,000 (GRCm39) |
T558I |
probably damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,860,615 (GRCm39) |
V397D |
possibly damaging |
Het |
Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
Gemin5 |
A |
T |
11: 58,038,805 (GRCm39) |
L568* |
probably null |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
Kif17 |
A |
G |
4: 137,997,206 (GRCm39) |
Y43C |
probably damaging |
Het |
Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
Krt7 |
A |
C |
15: 101,310,448 (GRCm39) |
S32R |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
Luzp2 |
T |
A |
7: 54,914,018 (GRCm39) |
|
probably null |
Het |
Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
Neto1 |
A |
T |
18: 86,518,179 (GRCm39) |
Y528F |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,760,469 (GRCm39) |
C187S |
possibly damaging |
Het |
Nup160 |
T |
C |
2: 90,540,432 (GRCm39) |
Y854H |
probably damaging |
Het |
Odc1 |
T |
C |
12: 17,598,538 (GRCm39) |
|
probably benign |
Het |
Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
Plcxd3 |
A |
T |
15: 4,405,291 (GRCm39) |
I33F |
probably benign |
Het |
Postn |
A |
G |
3: 54,283,522 (GRCm39) |
T534A |
probably damaging |
Het |
Prkd2 |
T |
A |
7: 16,591,732 (GRCm39) |
F588I |
possibly damaging |
Het |
Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
Rinl |
C |
T |
7: 28,497,057 (GRCm39) |
A519V |
probably damaging |
Het |
Rpgrip1l |
A |
C |
8: 91,979,517 (GRCm39) |
V975G |
probably damaging |
Het |
Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
Rtkn |
T |
C |
6: 83,112,975 (GRCm39) |
S16P |
probably damaging |
Het |
Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
Sdf4 |
G |
A |
4: 156,083,886 (GRCm39) |
A119T |
probably damaging |
Het |
Sgpp1 |
T |
A |
12: 75,762,990 (GRCm39) |
H397L |
possibly damaging |
Het |
Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
Smcp |
A |
T |
3: 92,491,788 (GRCm39) |
C20S |
unknown |
Het |
Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,540,120 (GRCm39) |
|
probably benign |
Het |
Tmem170b |
A |
T |
13: 41,759,738 (GRCm39) |
Q16L |
probably null |
Het |
Tmem30a |
A |
G |
9: 79,700,311 (GRCm39) |
F61S |
probably damaging |
Het |
Tnfsf13b |
T |
C |
8: 10,081,534 (GRCm39) |
M232T |
probably damaging |
Het |
Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
Tusc3 |
C |
A |
8: 39,513,721 (GRCm39) |
S64* |
probably null |
Het |
Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
Zfp607a |
T |
C |
7: 27,578,493 (GRCm39) |
V521A |
probably benign |
Het |
Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
probably damaging |
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 |
|
R1646:Myo1h
|
UTSW |
5 |
114,455,693 (GRCm39) |
missense |
possibly damaging |
0.90 |
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 |
|
Posted On |
2014-04-24 |