Incidental Mutation 'IGL02026:Myo1h'
ID |
184172 |
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 # |
IGL02026
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 114461505 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 250
(Q250L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132905
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
AlphaFold |
Q9D6A1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000124316
AA Change: Q234L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: Q234L
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 null
Transcript: ENSMUST00000169347
AA Change: Q250L
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952 AA Change: Q250L
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 null
Transcript: ENSMUST00000202006
AA Change: Q234L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952 AA Change: Q234L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
T |
14: 68,809,251 (GRCm39) |
V237E |
possibly damaging |
Het |
Amh |
T |
C |
10: 80,641,242 (GRCm39) |
L54P |
probably damaging |
Het |
Aoc3 |
T |
C |
11: 101,228,421 (GRCm39) |
S743P |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,342,407 (GRCm39) |
W19R |
probably damaging |
Het |
Atm |
C |
T |
9: 53,353,717 (GRCm39) |
|
probably null |
Het |
Ccdc47 |
T |
C |
11: 106,095,853 (GRCm39) |
E281G |
probably damaging |
Het |
Col7a1 |
A |
C |
9: 108,797,097 (GRCm39) |
K1650N |
probably damaging |
Het |
Cstdc5 |
C |
A |
16: 36,187,848 (GRCm39) |
V6F |
possibly damaging |
Het |
Evi2b |
T |
C |
11: 79,406,613 (GRCm39) |
S321G |
probably damaging |
Het |
Fancm |
T |
G |
12: 65,152,508 (GRCm39) |
V988G |
probably benign |
Het |
Gbp2 |
A |
G |
3: 142,339,241 (GRCm39) |
Y431C |
probably damaging |
Het |
Gclc |
T |
C |
9: 77,699,342 (GRCm39) |
V530A |
probably benign |
Het |
Gm5885 |
T |
C |
6: 133,508,291 (GRCm39) |
|
noncoding transcript |
Het |
Hlcs |
A |
T |
16: 93,935,564 (GRCm39) |
I576N |
probably damaging |
Het |
Hnrnpul1 |
A |
T |
7: 25,444,587 (GRCm39) |
F240L |
probably damaging |
Het |
Itgb6 |
C |
A |
2: 60,458,410 (GRCm39) |
V448F |
possibly damaging |
Het |
Lama1 |
A |
G |
17: 68,116,287 (GRCm39) |
T2385A |
possibly damaging |
Het |
Lamc2 |
C |
T |
1: 153,020,482 (GRCm39) |
|
probably benign |
Het |
Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,924,231 (GRCm39) |
N312S |
probably damaging |
Het |
Ltbp4 |
G |
A |
7: 27,026,842 (GRCm39) |
R468* |
probably null |
Het |
Man1a |
T |
C |
10: 53,890,569 (GRCm39) |
E373G |
probably damaging |
Het |
Myo9a |
T |
C |
9: 59,813,245 (GRCm39) |
V2077A |
probably damaging |
Het |
Or14j3 |
A |
G |
17: 37,900,298 (GRCm39) |
|
probably benign |
Het |
Otud5 |
C |
T |
X: 7,738,232 (GRCm39) |
|
probably benign |
Het |
Pcsk1 |
A |
G |
13: 75,260,772 (GRCm39) |
S332G |
probably benign |
Het |
Pde8b |
A |
G |
13: 95,170,869 (GRCm39) |
V549A |
probably damaging |
Het |
Pgap1 |
A |
T |
1: 54,533,978 (GRCm39) |
M645K |
probably benign |
Het |
Pm20d1 |
A |
T |
1: 131,729,497 (GRCm39) |
R175* |
probably null |
Het |
Polr2b |
A |
G |
5: 77,480,099 (GRCm39) |
N585S |
probably benign |
Het |
Recql |
T |
A |
6: 142,312,394 (GRCm39) |
K41* |
probably null |
Het |
Sccpdh |
A |
T |
1: 179,505,634 (GRCm39) |
H138L |
possibly damaging |
Het |
Sec31a |
A |
T |
5: 100,517,485 (GRCm39) |
S951T |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,140,832 (GRCm39) |
|
probably benign |
Het |
Tchhl1 |
G |
T |
3: 93,377,862 (GRCm39) |
A189S |
probably damaging |
Het |
Tdrd12 |
G |
A |
7: 35,203,658 (GRCm39) |
|
probably benign |
Het |
Tesl2 |
T |
G |
X: 23,824,233 (GRCm39) |
H314P |
probably damaging |
Het |
Trbv12-1 |
A |
G |
6: 41,090,928 (GRCm39) |
D100G |
probably damaging |
Het |
Ttll13 |
T |
A |
7: 79,910,127 (GRCm39) |
S757T |
probably benign |
Het |
Vipas39 |
T |
A |
12: 87,298,483 (GRCm39) |
|
probably benign |
Het |
Vmn1r64 |
G |
A |
7: 5,886,649 (GRCm39) |
P298L |
possibly damaging |
Het |
Vmn1r81 |
A |
G |
7: 11,994,432 (GRCm39) |
S59P |
probably damaging |
Het |
Vsx1 |
A |
T |
2: 150,530,447 (GRCm39) |
V145D |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,815,257 (GRCm39) |
N1586I |
probably damaging |
Het |
Zan |
T |
A |
5: 137,403,726 (GRCm39) |
|
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zzef1 |
T |
A |
11: 72,772,164 (GRCm39) |
M1707K |
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 |
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 |
|
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 |
2014-05-07 |