Incidental Mutation 'R5511:Myo1h'
ID |
431215 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1h
|
Ensembl Gene |
ENSMUSG00000066952 |
Gene Name |
myosin 1H |
Synonyms |
4631401O15Rik |
MMRRC Submission |
043072-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5511 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 114483958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 519
(L519*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
AlphaFold |
Q9D6A1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000124316
AA Change: L519*
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: L519*
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: L535*
|
SMART Domains |
Protein: ENSMUSP00000132905 Gene: ENSMUSG00000066952 AA Change: L535*
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: L519*
|
SMART Domains |
Protein: ENSMUSP00000144110 Gene: ENSMUSG00000066952 AA Change: L519*
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 |
0.9718 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.4%
- 10x: 95.1%
- 20x: 90.3%
|
Validation Efficiency |
98% (81/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,654,685 (GRCm39) |
L173P |
probably damaging |
Het |
Agl |
A |
T |
3: 116,582,209 (GRCm39) |
V271D |
possibly damaging |
Het |
Alox15 |
G |
T |
11: 70,240,808 (GRCm39) |
P191T |
probably benign |
Het |
Apaf1 |
T |
C |
10: 90,890,254 (GRCm39) |
Y583C |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,070,375 (GRCm39) |
|
probably benign |
Het |
Bms1 |
A |
G |
6: 118,365,848 (GRCm39) |
F1113L |
possibly damaging |
Het |
Cap1 |
A |
C |
4: 122,756,583 (GRCm39) |
|
probably benign |
Het |
Car11 |
T |
C |
7: 45,349,885 (GRCm39) |
W35R |
probably damaging |
Het |
Casc3 |
T |
A |
11: 98,701,740 (GRCm39) |
Y91* |
probably null |
Het |
Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
Cd22 |
A |
T |
7: 30,569,496 (GRCm39) |
I540N |
probably damaging |
Het |
Chad |
A |
T |
11: 94,456,072 (GRCm39) |
E50V |
probably damaging |
Het |
Chd3 |
C |
G |
11: 69,252,301 (GRCm39) |
G34R |
probably damaging |
Het |
Col9a1 |
T |
C |
1: 24,218,619 (GRCm39) |
V77A |
unknown |
Het |
Copg1 |
G |
A |
6: 87,889,276 (GRCm39) |
V873M |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,363,363 (GRCm39) |
V3975E |
probably damaging |
Het |
Dock6 |
A |
T |
9: 21,728,703 (GRCm39) |
V1290D |
possibly damaging |
Het |
Elp2 |
A |
T |
18: 24,745,507 (GRCm39) |
K150* |
probably null |
Het |
Eri3 |
A |
C |
4: 117,472,386 (GRCm39) |
Y260S |
possibly damaging |
Het |
Esrrg |
C |
T |
1: 187,943,304 (GRCm39) |
L426F |
probably damaging |
Het |
Farp1 |
G |
T |
14: 121,474,584 (GRCm39) |
V266L |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,458,897 (GRCm39) |
E2459G |
probably damaging |
Het |
Glis1 |
G |
A |
4: 107,293,074 (GRCm39) |
D66N |
probably damaging |
Het |
Gm14129 |
T |
A |
2: 148,773,446 (GRCm39) |
|
noncoding transcript |
Het |
Gm28051 |
A |
G |
12: 102,686,415 (GRCm39) |
*82R |
probably null |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Gne |
C |
T |
4: 44,041,843 (GRCm39) |
V485M |
probably damaging |
Het |
Lcn10 |
T |
A |
2: 25,572,841 (GRCm39) |
V15E |
probably benign |
Het |
Mapk11 |
T |
A |
15: 89,029,380 (GRCm39) |
|
probably null |
Het |
Me3 |
T |
G |
7: 89,455,876 (GRCm39) |
Y243D |
probably damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Myo9a |
T |
C |
9: 59,687,495 (GRCm39) |
V200A |
probably damaging |
Het |
Mzf1 |
T |
A |
7: 12,785,526 (GRCm39) |
Q161H |
possibly damaging |
Het |
Nim1k |
T |
G |
13: 120,189,130 (GRCm39) |
H93P |
probably damaging |
Het |
Nkx6-1 |
C |
A |
5: 101,811,532 (GRCm39) |
R190L |
probably damaging |
Het |
Noc3l |
A |
G |
19: 38,782,625 (GRCm39) |
V671A |
probably benign |
Het |
Nsd1 |
T |
C |
13: 55,460,543 (GRCm39) |
S2257P |
probably benign |
Het |
Nup210 |
T |
A |
6: 91,003,945 (GRCm39) |
I648F |
probably damaging |
Het |
Oplah |
T |
C |
15: 76,189,944 (GRCm39) |
E223G |
possibly damaging |
Het |
Or5b120 |
T |
C |
19: 13,480,556 (GRCm39) |
M283T |
probably benign |
Het |
Plekhs1 |
A |
C |
19: 56,474,224 (GRCm39) |
T457P |
probably damaging |
Het |
Plppr4 |
G |
A |
3: 117,119,551 (GRCm39) |
T286I |
probably benign |
Het |
Prpf4b |
T |
C |
13: 35,068,037 (GRCm39) |
|
probably benign |
Het |
Prss39 |
T |
A |
1: 34,541,878 (GRCm39) |
D318E |
possibly damaging |
Het |
Psap |
A |
G |
10: 60,134,959 (GRCm39) |
E289G |
possibly damaging |
Het |
Rad17 |
A |
G |
13: 100,764,157 (GRCm39) |
V438A |
possibly damaging |
Het |
Raf1 |
T |
C |
6: 115,597,217 (GRCm39) |
S28G |
probably benign |
Het |
Ranbp2 |
A |
G |
10: 58,329,561 (GRCm39) |
D2978G |
probably benign |
Het |
Rnf170 |
T |
A |
8: 26,631,027 (GRCm39) |
D213E |
probably damaging |
Het |
Rsph3a |
T |
A |
17: 8,164,905 (GRCm39) |
H88Q |
possibly damaging |
Het |
Scd1 |
A |
G |
19: 44,395,198 (GRCm39) |
I9T |
probably benign |
Het |
Sgk3 |
T |
C |
1: 9,968,911 (GRCm39) |
|
probably benign |
Het |
Slc14a1 |
C |
T |
18: 78,145,686 (GRCm39) |
S416N |
probably benign |
Het |
Smok4a |
T |
C |
17: 13,746,474 (GRCm39) |
|
noncoding transcript |
Het |
Sostdc1 |
A |
T |
12: 36,367,165 (GRCm39) |
I114F |
probably damaging |
Het |
Spen |
G |
A |
4: 141,202,375 (GRCm39) |
T2084I |
possibly damaging |
Het |
Spen |
G |
T |
4: 141,244,149 (GRCm39) |
D295E |
unknown |
Het |
Sptbn5 |
T |
C |
2: 119,890,202 (GRCm39) |
|
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,101,184 (GRCm39) |
|
probably benign |
Het |
Tcea3 |
A |
T |
4: 135,998,683 (GRCm39) |
Y319F |
probably damaging |
Het |
Timd4 |
T |
A |
11: 46,710,807 (GRCm39) |
|
probably null |
Het |
Tmem88b |
G |
A |
4: 155,870,002 (GRCm39) |
P20S |
probably damaging |
Het |
Tsen2 |
T |
A |
6: 115,538,365 (GRCm39) |
C281S |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,487,011 (GRCm39) |
T551A |
possibly damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,474,832 (GRCm39) |
H732R |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,063,995 (GRCm39) |
|
probably benign |
Het |
Zdbf2 |
T |
C |
1: 63,344,836 (GRCm39) |
S1072P |
probably benign |
Het |
Zfp148 |
A |
G |
16: 33,255,004 (GRCm39) |
|
probably benign |
Het |
Zfp2 |
T |
A |
11: 50,790,851 (GRCm39) |
E397D |
probably damaging |
Het |
Zfp729b |
A |
G |
13: 67,740,499 (GRCm39) |
F599L |
probably 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 |
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 |
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'- GGAAACCCCATGTCACCAGG -3'
(R):5'- AAATCTCAGTCAGCTTTAAAACAGG -3'
Sequencing Primer
(F):5'- TGCTGTGAACAGACACCTTG -3'
(R):5'- CAGTTCCTGGCTGCAAACTGATG -3'
|
Posted On |
2016-10-05 |