Incidental Mutation 'IGL02156:Myo1h'
| ID |
282254 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02156
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 114491972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000196676]
[ENSMUST00000202006]
[ENSMUST00000199567]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124316
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
| 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 |
noncoding transcript
Transcript: ENSMUST00000128379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169347
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
| 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 benign
Transcript: ENSMUST00000196467
|
| SMART Domains |
Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
1 |
52 |
7e-10 |
BLAST |
|
Pfam:Myosin_TH1
|
70 |
181 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196676
|
| SMART Domains |
Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202006
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
| 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 benign
Transcript: ENSMUST00000199567
|
| SMART Domains |
Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930408O17Rik |
G |
A |
12: 104,837,566 (GRCm39) |
|
noncoding transcript |
Het |
| Adam33 |
G |
A |
2: 130,895,078 (GRCm39) |
|
probably benign |
Het |
| Akr7a5 |
C |
A |
4: 139,041,580 (GRCm39) |
A163D |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,037,937 (GRCm39) |
|
probably benign |
Het |
| Asf1a |
C |
T |
10: 53,482,239 (GRCm39) |
A17V |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,085,529 (GRCm39) |
S25T |
probably benign |
Het |
| Cbln4 |
T |
C |
2: 171,884,128 (GRCm39) |
I31V |
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,376,005 (GRCm39) |
L172R |
possibly damaging |
Het |
| Ceacam9 |
T |
C |
7: 16,457,544 (GRCm39) |
|
probably benign |
Het |
| Crhr1 |
C |
A |
11: 104,054,709 (GRCm39) |
N107K |
probably benign |
Het |
| Cyp11b1 |
T |
A |
15: 74,707,646 (GRCm39) |
M488L |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,458,882 (GRCm39) |
V3752A |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,370,951 (GRCm39) |
V4744M |
probably damaging |
Het |
| Dstyk |
C |
A |
1: 132,377,664 (GRCm39) |
N423K |
probably benign |
Het |
| Exph5 |
T |
C |
9: 53,286,941 (GRCm39) |
S1341P |
probably damaging |
Het |
| Fam161b |
T |
C |
12: 84,401,527 (GRCm39) |
H409R |
probably benign |
Het |
| Fbxo21 |
A |
G |
5: 118,132,733 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
A |
G |
5: 147,618,551 (GRCm39) |
I230T |
probably damaging |
Het |
| Gm9931 |
T |
C |
1: 147,157,366 (GRCm39) |
|
noncoding transcript |
Het |
| Grk6 |
T |
C |
13: 55,597,174 (GRCm39) |
F36L |
possibly damaging |
Het |
| Grm1 |
G |
T |
10: 10,595,720 (GRCm39) |
A636D |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,800,916 (GRCm39) |
|
probably benign |
Het |
| Hltf |
G |
A |
3: 20,146,971 (GRCm39) |
V577I |
possibly damaging |
Het |
| Hrob |
C |
T |
11: 102,145,865 (GRCm39) |
S47F |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,755,359 (GRCm39) |
D378G |
probably damaging |
Het |
| Mcoln1 |
C |
A |
8: 3,562,657 (GRCm39) |
S6* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,961,292 (GRCm39) |
S194T |
probably benign |
Het |
| Nop9 |
T |
A |
14: 55,990,740 (GRCm39) |
C557* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,309,432 (GRCm39) |
D1619G |
probably damaging |
Het |
| Or10d1c |
T |
A |
9: 38,893,842 (GRCm39) |
Y166F |
possibly damaging |
Het |
| Or4f61 |
A |
T |
2: 111,922,361 (GRCm39) |
H228Q |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,494 (GRCm39) |
M59T |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 61,807,109 (GRCm39) |
D41E |
possibly damaging |
Het |
| Parp14 |
G |
T |
16: 35,678,967 (GRCm39) |
Q334K |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,847,859 (GRCm39) |
I1228K |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,965,799 (GRCm39) |
F814I |
probably benign |
Het |
| Prr5 |
A |
G |
15: 84,654,236 (GRCm39) |
I306V |
possibly damaging |
Het |
| Rsph1 |
T |
G |
17: 31,477,090 (GRCm39) |
S282R |
probably benign |
Het |
| Son |
T |
C |
16: 91,452,992 (GRCm39) |
S580P |
possibly damaging |
Het |
| Sptbn5 |
G |
T |
2: 119,878,098 (GRCm39) |
|
probably benign |
Het |
| Ssr2 |
T |
A |
3: 88,491,095 (GRCm39) |
|
probably null |
Het |
| Tfpt |
A |
G |
7: 3,632,039 (GRCm39) |
S24P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,577,197 (GRCm39) |
T1507A |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,641,163 (GRCm39) |
|
probably benign |
Het |
| Wwox |
G |
A |
8: 115,174,899 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
C |
T |
4: 131,931,819 (GRCm39) |
R447H |
possibly damaging |
Het |
| Zfp385c |
A |
G |
11: 100,519,845 (GRCm39) |
F368S |
probably damaging |
Het |
| Zfp488 |
A |
G |
14: 33,692,357 (GRCm39) |
S269P |
possibly damaging |
Het |
| Zhx1 |
A |
C |
15: 57,917,445 (GRCm39) |
V267G |
possibly 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 |
|
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 |
|
|
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 |
|
|
|
| Posted On |
2015-04-16 |
Incidental Mutation