Incidental Mutation 'R9518:Myo1h'
| ID |
718702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 114497588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 27
(V27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102581]
[ENSMUST00000124316]
[ENSMUST00000134532]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000196676]
[ENSMUST00000199567]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102581
|
| SMART Domains |
Protein: ENSMUSP00000099641
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
BTB
|
32 |
132 |
6.89e-19 |
SMART |
|
low complexity region
|
286 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124316
AA Change: V836A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: V836A
| 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 benign
Transcript: ENSMUST00000134532
|
| SMART Domains |
Protein: ENSMUSP00000138564
Gene: ENSMUSG00000001098
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
Pfam:BTB_2
|
34 |
89 |
2.8e-7 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: V852A
| 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: ENSMUST00000196467
AA Change: V27A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
1 |
52 |
7e-10 |
BLAST |
|
Pfam:Myosin_TH1
|
70 |
181 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000196676
AA Change: V27A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199567
AA Change: V27A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
AA Change: V27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: V836A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
T |
C |
5: 24,771,560 (GRCm39) |
T556A |
possibly damaging |
Het |
| B230104I21Rik |
G |
T |
4: 154,434,004 (GRCm39) |
E63* |
probably null |
Het |
| Brd10 |
A |
T |
19: 29,731,541 (GRCm39) |
H490Q |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,286,795 (GRCm39) |
K8E |
possibly damaging |
Het |
| Cacna1i |
G |
A |
15: 80,271,978 (GRCm39) |
G1582D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,465,572 (GRCm39) |
D1428V |
probably damaging |
Het |
| Ccdc178 |
G |
A |
18: 22,278,516 (GRCm39) |
T69I |
possibly damaging |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ces5a |
T |
C |
8: 94,257,430 (GRCm39) |
N125S |
probably damaging |
Het |
| Cps1 |
G |
T |
1: 67,259,662 (GRCm39) |
V1335L |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,492 (GRCm39) |
N4S |
probably benign |
Het |
| Dlx6 |
C |
A |
6: 6,863,406 (GRCm39) |
D9E |
probably damaging |
Het |
| Dnah12 |
A |
C |
14: 26,495,713 (GRCm39) |
D198A |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dpp8 |
T |
C |
9: 64,981,866 (GRCm39) |
M716T |
possibly damaging |
Het |
| Dvl3 |
T |
A |
16: 20,335,961 (GRCm39) |
I6N |
possibly damaging |
Het |
| Egflam |
A |
G |
15: 7,319,263 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
A |
T |
1: 185,111,763 (GRCm39) |
M258L |
probably benign |
Het |
| Etnk1 |
A |
T |
6: 143,149,144 (GRCm39) |
M352L |
probably benign |
Het |
| Fam124a |
A |
C |
14: 62,824,947 (GRCm39) |
D147A |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,056,647 (GRCm39) |
D468G |
possibly damaging |
Het |
| Grm8 |
T |
A |
6: 27,429,469 (GRCm39) |
Q475L |
probably benign |
Het |
| Kel |
T |
C |
6: 41,679,334 (GRCm39) |
E143G |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,840,676 (GRCm39) |
Y1147H |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,519,827 (GRCm39) |
K1729E |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,693,496 (GRCm39) |
R433H |
probably benign |
Het |
| Mettl14 |
T |
C |
3: 123,167,687 (GRCm39) |
I224V |
probably benign |
Het |
| Mgat5b |
A |
G |
11: 116,869,299 (GRCm39) |
N614S |
probably benign |
Het |
| Mlh3 |
C |
T |
12: 85,313,004 (GRCm39) |
V1061I |
probably benign |
Het |
| Mtcl3 |
T |
A |
10: 29,022,748 (GRCm39) |
C32S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,367 (GRCm39) |
H956Q |
probably benign |
Het |
| Or11h7 |
A |
T |
14: 50,891,101 (GRCm39) |
M136L |
probably damaging |
Het |
| Or13p3 |
A |
G |
4: 118,567,120 (GRCm39) |
N172S |
probably damaging |
Het |
| Pcdh7 |
A |
T |
5: 58,070,513 (GRCm39) |
T1064S |
possibly damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,280 (GRCm39) |
E314G |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pgr |
A |
T |
9: 8,922,645 (GRCm39) |
D605V |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,860,579 (GRCm39) |
S904G |
possibly damaging |
Het |
| Prpf8 |
T |
C |
11: 75,394,486 (GRCm39) |
I1807T |
possibly damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,200,468 (GRCm39) |
Q225L |
probably damaging |
Het |
| Strn3 |
A |
C |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Tent2 |
A |
G |
13: 93,320,612 (GRCm39) |
I147T |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,985,049 (GRCm39) |
R19H |
probably benign |
Het |
| Themis |
T |
A |
10: 28,544,748 (GRCm39) |
|
probably null |
Het |
| Trim28 |
C |
T |
7: 12,764,445 (GRCm39) |
P753S |
probably damaging |
Het |
| Vac14 |
C |
T |
8: 111,442,070 (GRCm39) |
Q683* |
probably null |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Zfp541 |
T |
C |
7: 15,813,036 (GRCm39) |
I563T |
possibly 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 |
|
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 |
|
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'- CCGTAGCTGTGTCCCAATAAAG -3'
(R):5'- TGCTTTCATCTAAGGAGGGGAC -3'
Sequencing Primer
(F):5'- TTTATTGACACACACAAGCAGCAGG -3'
(R):5'- AGTCAGCACCAGCCCTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation