Incidental Mutation 'R8004:Myo1h'
| ID |
616506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
046044-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8004 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114458769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 184
(D184V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124316
AA Change: D168V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: D168V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: D184V
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: D168V
| 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 |
0.5719 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 12,021,286 (GRCm39) |
|
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,087,554 (GRCm39) |
K1070N |
possibly damaging |
Het |
| Ankrd24 |
T |
A |
10: 81,474,191 (GRCm39) |
N179K |
unknown |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,484 (GRCm39) |
F775L |
possibly damaging |
Het |
| Bbs2 |
A |
G |
8: 94,809,118 (GRCm39) |
V269A |
possibly damaging |
Het |
| Bpifc |
T |
G |
10: 85,815,148 (GRCm39) |
S273R |
probably benign |
Het |
| Cdan1 |
C |
T |
2: 120,561,924 (GRCm39) |
R20Q |
unknown |
Het |
| Cfap251 |
T |
C |
5: 123,392,513 (GRCm39) |
W216R |
unknown |
Het |
| Chrm2 |
T |
A |
6: 36,500,221 (GRCm39) |
I26N |
probably damaging |
Het |
| Cngb3 |
A |
G |
4: 19,505,273 (GRCm39) |
K669E |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,479,380 (GRCm39) |
I876V |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,591,683 (GRCm39) |
T926S |
probably damaging |
Het |
| Cyp2b23 |
G |
T |
7: 26,378,891 (GRCm39) |
T191K |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,057,532 (GRCm39) |
D342G |
probably damaging |
Het |
| Dpp4 |
A |
G |
2: 62,189,172 (GRCm39) |
V453A |
probably benign |
Het |
| Eif2ak4 |
T |
C |
2: 118,247,775 (GRCm39) |
S271P |
possibly damaging |
Het |
| Fbxw20 |
G |
T |
9: 109,050,449 (GRCm39) |
P392H |
probably damaging |
Het |
| Fcho2 |
T |
A |
13: 98,926,013 (GRCm39) |
E118V |
possibly damaging |
Het |
| Gm2042 |
C |
G |
12: 87,926,921 (GRCm39) |
Q413E |
possibly damaging |
Het |
| Gm904 |
G |
A |
13: 50,799,343 (GRCm39) |
|
probably null |
Het |
| H2-D1 |
A |
G |
17: 35,485,672 (GRCm39) |
S352G |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,067,954 (GRCm39) |
V451L |
probably benign |
Het |
| Igkv1-99 |
T |
C |
6: 68,519,112 (GRCm39) |
V23A |
|
Het |
| Igsf10 |
A |
G |
3: 59,237,130 (GRCm39) |
I1017T |
probably benign |
Het |
| Il18r1 |
G |
A |
1: 40,513,917 (GRCm39) |
C41Y |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 115,873,531 (GRCm39) |
D249G |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrn2 |
T |
A |
1: 132,865,489 (GRCm39) |
F185I |
probably damaging |
Het |
| Mllt6 |
G |
T |
11: 97,566,966 (GRCm39) |
E635D |
possibly damaging |
Het |
| Msh6 |
A |
G |
17: 88,294,215 (GRCm39) |
E990G |
probably damaging |
Het |
| Nfatc2ip |
A |
G |
7: 125,989,577 (GRCm39) |
V269A |
possibly damaging |
Het |
| Nfkb1 |
C |
A |
3: 135,297,312 (GRCm39) |
|
probably benign |
Het |
| Nol12 |
A |
T |
15: 78,824,717 (GRCm39) |
K181N |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,379,286 (GRCm39) |
T266S |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,920,821 (GRCm39) |
I85L |
probably benign |
Het |
| Or5k3 |
T |
A |
16: 58,969,351 (GRCm39) |
V46E |
probably damaging |
Het |
| Or7e171-ps1 |
A |
T |
9: 19,853,408 (GRCm39) |
D109E |
possibly damaging |
Het |
| Parm1 |
A |
C |
5: 91,742,132 (GRCm39) |
S167R |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,158,674 (GRCm39) |
D526G |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Psmd9 |
T |
C |
5: 123,379,998 (GRCm39) |
|
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,749,242 (GRCm39) |
V1220A |
probably damaging |
Het |
| Rbm25 |
A |
T |
12: 83,721,166 (GRCm39) |
E577D |
possibly damaging |
Het |
| Rbm44 |
T |
A |
1: 91,079,880 (GRCm39) |
|
probably benign |
Het |
| S100a6 |
T |
C |
3: 90,521,119 (GRCm39) |
F16L |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,520,945 (GRCm39) |
H53Q |
probably benign |
Het |
| Setd2 |
G |
A |
9: 110,421,613 (GRCm39) |
A282T |
|
Het |
| Slc35f5 |
A |
T |
1: 125,517,624 (GRCm39) |
H474L |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,525,711 (GRCm39) |
|
probably null |
Het |
| Smc1b |
G |
A |
15: 84,981,815 (GRCm39) |
S735F |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,552 (GRCm39) |
I531K |
possibly damaging |
Het |
| St6galnac5 |
A |
T |
3: 152,545,802 (GRCm39) |
M252K |
probably damaging |
Het |
| Tas2r120 |
T |
A |
6: 132,634,390 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Tbc1d10b |
T |
A |
7: 126,798,183 (GRCm39) |
S653C |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,452,047 (GRCm39) |
E693G |
possibly damaging |
Het |
| Thada |
A |
G |
17: 84,499,633 (GRCm39) |
S1855P |
probably benign |
Het |
| Tjp2 |
G |
A |
19: 24,091,484 (GRCm39) |
P559L |
probably damaging |
Het |
| Tmem184b |
A |
G |
15: 79,246,966 (GRCm39) |
S368P |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,902,894 (GRCm39) |
S1461L |
probably benign |
Het |
| Tnpo2 |
T |
C |
8: 85,771,328 (GRCm39) |
F177S |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,506 (GRCm39) |
Y241* |
probably null |
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 |
|
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 |
|
|
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'- GACAATGTGTGGCTTCCCTC -3'
(R):5'- ACACTACATGCTCATGAATGCAGC -3'
Sequencing Primer
(F):5'- AATGTGTGGCTTCCCTCCCTAG -3'
(R):5'- TGCTCATGAATGCAGCCATATGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation