Incidental Mutation 'R0751:Myo1h'
| ID |
70317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
038931-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114458747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 161
(S161C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124316
AA Change: S161C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: S161C
| 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: S177C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: S177C
| 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: S161C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: S161C
| 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 |
0.3700 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
T |
A |
4: 132,792,707 (GRCm39) |
M1316K |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,776 (GRCm39) |
I455V |
probably benign |
Het |
| Ankrd28 |
A |
G |
14: 31,486,225 (GRCm39) |
L89P |
probably damaging |
Het |
| Aqp9 |
A |
T |
9: 71,045,487 (GRCm39) |
C41S |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,913,913 (GRCm39) |
Y199C |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,384,636 (GRCm39) |
|
probably benign |
Het |
| Cacfd1 |
T |
C |
2: 26,908,993 (GRCm39) |
|
probably null |
Het |
| Cd33 |
T |
C |
7: 43,181,545 (GRCm39) |
D205G |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,577,258 (GRCm39) |
S198G |
probably benign |
Het |
| Chtf8 |
A |
G |
8: 107,613,109 (GRCm39) |
|
probably null |
Het |
| Clec4a4 |
G |
T |
6: 122,989,671 (GRCm39) |
W104L |
probably benign |
Het |
| Clock |
A |
T |
5: 76,377,208 (GRCm39) |
I696K |
possibly damaging |
Het |
| Crtc2 |
T |
A |
3: 90,169,940 (GRCm39) |
Y445* |
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,844,112 (GRCm39) |
I44F |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,270,204 (GRCm39) |
|
probably null |
Het |
| Derl2 |
T |
C |
11: 70,905,373 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
A |
G |
1: 46,505,065 (GRCm39) |
T154A |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,516,762 (GRCm39) |
|
probably null |
Het |
| Dusp3 |
A |
T |
11: 101,872,554 (GRCm39) |
S106T |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,730,079 (GRCm39) |
V897A |
probably damaging |
Het |
| Eif3l |
T |
A |
15: 78,959,966 (GRCm39) |
|
probably null |
Het |
| Fbxo33 |
A |
C |
12: 59,265,878 (GRCm39) |
F130V |
probably damaging |
Het |
| Ffar3 |
T |
A |
7: 30,554,529 (GRCm39) |
N264Y |
probably damaging |
Het |
| Fig4 |
T |
C |
10: 41,148,978 (GRCm39) |
D158G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,648,218 (GRCm39) |
F1239L |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,249,442 (GRCm39) |
|
probably benign |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,234,452 (GRCm39) |
D581G |
probably damaging |
Het |
| Ift70a2 |
C |
T |
2: 75,808,375 (GRCm39) |
A46T |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,375,321 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
C |
13: 9,216,345 (GRCm39) |
|
probably benign |
Het |
| Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
| Lrrc8a |
T |
C |
2: 30,146,362 (GRCm39) |
V392A |
possibly damaging |
Het |
| Mavs |
A |
T |
2: 131,088,684 (GRCm39) |
Y496F |
probably damaging |
Het |
| Mpi |
A |
T |
9: 57,457,897 (GRCm39) |
S102T |
probably damaging |
Het |
| Mroh9 |
G |
A |
1: 162,893,693 (GRCm39) |
R161W |
possibly damaging |
Het |
| Napg |
T |
G |
18: 63,127,409 (GRCm39) |
H204Q |
probably benign |
Het |
| Nelfcd |
C |
A |
2: 174,264,807 (GRCm39) |
A182D |
probably benign |
Het |
| Ntsr2 |
G |
T |
12: 16,704,031 (GRCm39) |
K91N |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,645 (GRCm39) |
S2134P |
probably damaging |
Het |
| Ogfod2 |
G |
A |
5: 124,251,539 (GRCm39) |
|
probably benign |
Het |
| Or13a19 |
G |
A |
7: 139,903,238 (GRCm39) |
V209I |
probably benign |
Het |
| Or1e26 |
G |
T |
11: 73,479,970 (GRCm39) |
T198K |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,127,123 (GRCm39) |
V535A |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,822,866 (GRCm39) |
|
probably null |
Het |
| Pimreg |
C |
A |
11: 71,933,939 (GRCm39) |
Q22K |
probably benign |
Het |
| Pld5 |
A |
G |
1: 175,872,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Plxnc1 |
T |
C |
10: 94,667,195 (GRCm39) |
|
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,677,377 (GRCm39) |
C306* |
probably null |
Het |
| Ptprc |
A |
G |
1: 138,020,668 (GRCm39) |
Y588H |
probably damaging |
Het |
| Rac2 |
T |
G |
15: 78,450,145 (GRCm39) |
D65A |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,888,676 (GRCm39) |
|
probably null |
Het |
| Serpinb1a |
T |
C |
13: 33,027,199 (GRCm39) |
K248E |
probably benign |
Het |
| Serpinb9e |
A |
C |
13: 33,443,757 (GRCm39) |
E259A |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,678,532 (GRCm39) |
V266E |
probably damaging |
Het |
| Slc8b1 |
A |
G |
5: 120,662,260 (GRCm39) |
|
probably benign |
Het |
| Spink6 |
T |
C |
18: 44,204,605 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,012,256 (GRCm39) |
R354H |
probably damaging |
Het |
| Ssb |
T |
A |
2: 69,700,909 (GRCm39) |
S330T |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,527,966 (GRCm39) |
V1408F |
probably benign |
Het |
| Sumf2 |
A |
T |
5: 129,878,846 (GRCm39) |
T61S |
probably benign |
Het |
| Sypl2 |
T |
C |
3: 108,124,072 (GRCm39) |
T157A |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,287,749 (GRCm39) |
D483E |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,769,563 (GRCm39) |
N451S |
possibly damaging |
Het |
| Tradd |
T |
C |
8: 105,986,403 (GRCm39) |
E123G |
probably damaging |
Het |
| Trim36 |
T |
C |
18: 46,329,318 (GRCm39) |
T41A |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,645,746 (GRCm39) |
P535S |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,164,509 (GRCm39) |
|
probably benign |
Het |
| Uqcc5 |
G |
T |
14: 30,810,953 (GRCm39) |
|
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,181 (GRCm39) |
Y217C |
probably damaging |
Het |
| Vmn2r63 |
A |
C |
7: 42,577,459 (GRCm39) |
F360V |
probably damaging |
Het |
| Vmn2r78 |
G |
A |
7: 86,603,588 (GRCm39) |
V589M |
possibly damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,833 (GRCm39) |
Y630C |
probably damaging |
Het |
| Vrk2 |
A |
G |
11: 26,433,331 (GRCm39) |
|
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 |
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACAATGTGTGGCTTCCCTCCC -3'
(R):5'- CACACTACATGCTCATGAATGCAGC -3'
Sequencing Primer
(F):5'- GGCTTCCCTCCCTAGCTC -3'
(R):5'- acacacacaaatacacacacac -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation