Incidental Mutation 'R6891:Myo1h'
| ID |
537209 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
044985-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114487673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 626
(R626C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124316
AA Change: R626C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: R626C
| 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: R642C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: R642C
| 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: R626C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: R626C
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
C |
T |
9: 107,806,346 (GRCm39) |
A223V |
probably benign |
Het |
| Agbl5 |
G |
T |
5: 31,052,522 (GRCm39) |
R61L |
probably damaging |
Het |
| Agmat |
A |
T |
4: 141,483,192 (GRCm39) |
T209S |
probably benign |
Het |
| Ankrd34a |
G |
A |
3: 96,505,335 (GRCm39) |
V180I |
probably benign |
Het |
| Anks1 |
C |
T |
17: 28,276,398 (GRCm39) |
T1047M |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,855,142 (GRCm39) |
I1407F |
probably damaging |
Het |
| Armc1 |
C |
A |
3: 19,189,205 (GRCm39) |
C183F |
probably damaging |
Het |
| Atg13 |
A |
G |
2: 91,516,136 (GRCm39) |
M196T |
probably benign |
Het |
| AU040320 |
G |
T |
4: 126,740,231 (GRCm39) |
S864I |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,667,014 (GRCm39) |
D197G |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,325,706 (GRCm39) |
I208T |
probably benign |
Het |
| Cbs |
T |
A |
17: 31,841,431 (GRCm39) |
R263S |
probably damaging |
Het |
| Ccdc7a |
C |
A |
8: 129,753,119 (GRCm39) |
R204L |
probably damaging |
Het |
| Cdhr1 |
A |
T |
14: 36,819,334 (GRCm39) |
|
probably null |
Het |
| Cers4 |
G |
A |
8: 4,573,731 (GRCm39) |
R378Q |
probably damaging |
Het |
| Chst1 |
T |
G |
2: 92,444,088 (GRCm39) |
L187V |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,260,565 (GRCm39) |
N164K |
probably damaging |
Het |
| Cln3 |
T |
A |
7: 126,181,975 (GRCm39) |
D29V |
possibly damaging |
Het |
| Crybg2 |
A |
G |
4: 133,809,148 (GRCm39) |
S187G |
probably benign |
Het |
| Ddx1 |
A |
T |
12: 13,286,096 (GRCm39) |
N285K |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,387,664 (GRCm39) |
I58T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,829,135 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Eral1 |
C |
T |
11: 77,966,559 (GRCm39) |
V234I |
possibly damaging |
Het |
| Fads2b |
C |
A |
2: 85,319,149 (GRCm39) |
M384I |
possibly damaging |
Het |
| Fads2b |
T |
G |
2: 85,319,157 (GRCm39) |
T382P |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,401,554 (GRCm39) |
F400S |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,223,754 (GRCm39) |
D314G |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,839,909 (GRCm39) |
L127Q |
probably damaging |
Het |
| Gjd2 |
G |
A |
2: 113,843,575 (GRCm39) |
A14V |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,766,173 (GRCm39) |
|
probably null |
Het |
| Gpr151 |
T |
A |
18: 42,711,985 (GRCm39) |
D231V |
probably benign |
Het |
| Gzf1 |
A |
T |
2: 148,526,689 (GRCm39) |
K387* |
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,065,240 (GRCm39) |
K146N |
possibly damaging |
Het |
| Hgf |
G |
A |
5: 16,809,920 (GRCm39) |
|
probably null |
Het |
| Isoc2b |
A |
G |
7: 4,854,487 (GRCm39) |
S15P |
probably damaging |
Het |
| Itga5 |
A |
G |
15: 103,265,970 (GRCm39) |
S126P |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,104 (GRCm39) |
D1152G |
probably benign |
Het |
| Kcna4 |
C |
T |
2: 107,126,652 (GRCm39) |
S462F |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,394,168 (GRCm39) |
C902S |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,204,068 (GRCm39) |
C523* |
probably null |
Het |
| Lama2 |
G |
C |
10: 27,204,078 (GRCm39) |
S520* |
probably null |
Het |
| Ltf |
T |
C |
9: 110,854,181 (GRCm39) |
V332A |
probably benign |
Het |
| Mapkap1 |
T |
C |
2: 34,453,153 (GRCm39) |
F349L |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,983,937 (GRCm39) |
N188D |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,631,252 (GRCm39) |
S730P |
possibly damaging |
Het |
| Mrgprd |
T |
A |
7: 144,876,087 (GRCm39) |
D319E |
probably benign |
Het |
| Mrps9 |
C |
A |
1: 42,944,573 (GRCm39) |
L364I |
probably damaging |
Het |
| Nme3 |
T |
C |
17: 25,115,829 (GRCm39) |
S61P |
probably benign |
Het |
| Or2g1 |
A |
G |
17: 38,106,395 (GRCm39) |
Q20R |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,192 (GRCm39) |
I249T |
probably damaging |
Het |
| Pald1 |
A |
G |
10: 61,184,311 (GRCm39) |
|
probably null |
Het |
| Papola |
A |
T |
12: 105,775,950 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,605,504 (GRCm39) |
T1458A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,543,873 (GRCm39) |
Q659R |
probably damaging |
Het |
| Pramel38 |
C |
A |
5: 94,365,978 (GRCm39) |
P32Q |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,548 (GRCm39) |
V146A |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,713,442 (GRCm39) |
T362A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,300 (GRCm39) |
Y418H |
probably damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,557 (GRCm39) |
C723* |
probably null |
Het |
| Supt7l |
T |
A |
5: 31,680,365 (GRCm39) |
N16Y |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,703,499 (GRCm39) |
V105A |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,981,899 (GRCm38) |
V8E |
probably benign |
Het |
| Tlx1 |
A |
T |
19: 45,139,757 (GRCm39) |
I135F |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,887,417 (GRCm39) |
I36T |
probably damaging |
Het |
| Troap |
A |
G |
15: 98,980,569 (GRCm39) |
Y583C |
possibly damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,307 (GRCm39) |
K207E |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,149,845 (GRCm39) |
V400M |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,240,590 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
G |
T |
1: 175,533,634 (GRCm39) |
W90L |
probably damaging |
Het |
| Yme1l1 |
A |
G |
2: 23,085,401 (GRCm39) |
E662G |
probably damaging |
Het |
| Zfp334 |
C |
T |
2: 165,224,644 (GRCm39) |
V68I |
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 |
|
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 |
|
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'- ACAGGTTTCCGTCGTTAGCC -3'
(R):5'- ACTGCAGGAAGCTGAGTTGG -3'
Sequencing Primer
(F):5'- TCGTTAGCCGCGACTTG -3'
(R):5'- TAGGGCTTAGTGAACTCAGCG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation