Incidental Mutation 'IGL02938:Myo1h'
| ID |
364417 |
| 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 # |
IGL02938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114497000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 819
(Y819H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102581]
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000199567]
[ENSMUST00000202006]
[ENSMUST00000196676]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102581
|
| SMART Domains |
Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
BTB
|
32 |
132 |
6.89e-19 |
SMART |
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124316
AA Change: Y819H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: Y819H
| 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: ENSMUST00000125230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152694
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169347
AA Change: Y835H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: Y835H
| 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: ENSMUST00000196467
AA Change: Y10H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
AA Change: Y10H
| 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 damaging
Transcript: ENSMUST00000199567
AA Change: Y10H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
AA Change: Y10H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202006
AA Change: Y819H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: Y819H
| 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: ENSMUST00000196676
AA Change: Y10H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
AA Change: Y10H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
| Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
| Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
| Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
| Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
| Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
| Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
| Cyp2c29 |
T |
A |
19: 39,275,567 (GRCm39) |
D2E |
probably damaging |
Het |
| Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
| Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
| Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
| Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
| Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
| Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
| Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
| Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
| Lrrc8a |
C |
T |
2: 30,145,698 (GRCm39) |
R171W |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
| Myo1b |
A |
C |
1: 51,840,337 (GRCm39) |
|
probably null |
Het |
| Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,789,761 (GRCm39) |
S792P |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
| Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
| Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
| Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
| Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
| Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,696 (GRCm39) |
|
probably benign |
Het |
| Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
| Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
| Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
| Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
| Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
| Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
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 |
|
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 |
2015-12-18 |
Incidental Mutation