Incidental Mutation 'R4255:Myo1h'
ID |
321775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1h
|
Ensembl Gene |
ENSMUSG00000066952 |
Gene Name |
myosin 1H |
Synonyms |
4631401O15Rik |
MMRRC Submission |
041068-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4255 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114468198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 331
(I331T)
|
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: I331T
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: I331T
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: I347T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952 AA Change: I347T
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: I331T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952 AA Change: I331T
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 |
0.1086 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
93% (50/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
Gpc6 |
A |
G |
14: 118,188,553 (GRCm39) |
T396A |
probably benign |
Het |
Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
Rabl6 |
C |
T |
2: 25,474,791 (GRCm39) |
E640K |
possibly damaging |
Het |
Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
Slc12a9 |
C |
T |
5: 137,319,694 (GRCm39) |
R607H |
probably damaging |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
Spata31d1c |
C |
G |
13: 65,183,502 (GRCm39) |
S348* |
probably null |
Het |
Spata31d1c |
T |
C |
13: 65,183,531 (GRCm39) |
F358L |
probably benign |
Het |
Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
probably benign |
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 |
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 |
|
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'- ATGGCTGTCCTTATGGCAC -3'
(R):5'- TCACAGGCACAATATGATGATCG -3'
Sequencing Primer
(F):5'- CAGGACTTGGATGTCTCCTTAG -3'
(R):5'- CGTAAGACATTACCACTTCAATGAG -3'
|
Posted On |
2015-06-20 |