Incidental Mutation 'R6344:Myo1h'
| ID |
514045 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
044498-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6344 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114466776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 275
(S275G)
|
| 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: S275G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: S275G
| 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: ENSMUST00000169347
AA Change: S291G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: S291G
| 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: S275G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: S275G
| 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: 99.8%
- 10x: 98.3%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,327,706 (GRCm39) |
P707L |
probably damaging |
Het |
| Bbip1 |
A |
G |
19: 53,919,912 (GRCm39) |
V23A |
probably benign |
Het |
| Bdnf |
A |
T |
2: 109,554,022 (GRCm39) |
Y132F |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,583,752 (GRCm39) |
D72G |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,011,447 (GRCm39) |
K343N |
possibly damaging |
Het |
| Cep112 |
A |
T |
11: 108,410,000 (GRCm39) |
Y472F |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,700,899 (GRCm39) |
|
probably benign |
Het |
| Cyp27a1 |
T |
C |
1: 74,776,008 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,436,349 (GRCm39) |
I3998V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnhd1 |
A |
G |
7: 105,343,817 (GRCm39) |
I1720M |
probably benign |
Het |
| Fkbpl |
A |
G |
17: 34,864,544 (GRCm39) |
K104R |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,914,594 (GRCm39) |
A966E |
probably benign |
Het |
| Iba57 |
G |
A |
11: 59,049,119 (GRCm39) |
P350L |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 87,989,401 (GRCm39) |
|
probably null |
Het |
| Kcnj9 |
A |
G |
1: 172,153,713 (GRCm39) |
V137A |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,672,777 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
A |
T |
9: 44,733,156 (GRCm39) |
|
probably benign |
Het |
| Lilra5 |
T |
A |
7: 4,241,785 (GRCm39) |
F195I |
probably damaging |
Het |
| Mcm9 |
A |
G |
10: 53,414,033 (GRCm39) |
I349T |
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,696,300 (GRCm39) |
L143P |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,248,985 (GRCm39) |
F174L |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,416,708 (GRCm39) |
L3218Q |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,067,791 (GRCm39) |
V615D |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,780,558 (GRCm39) |
L485P |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,378,534 (GRCm39) |
Y1646H |
probably damaging |
Het |
| Nsf |
A |
T |
11: 103,752,730 (GRCm39) |
V539D |
probably damaging |
Het |
| Nutm1 |
A |
T |
2: 112,079,247 (GRCm39) |
N889K |
possibly damaging |
Het |
| Or2n1b |
C |
T |
17: 38,459,611 (GRCm39) |
A44V |
probably benign |
Het |
| Or55b3 |
A |
G |
7: 102,126,738 (GRCm39) |
L113P |
probably damaging |
Het |
| Pcdhga2 |
T |
A |
18: 37,803,815 (GRCm39) |
V553E |
probably benign |
Het |
| Pkmyt1 |
T |
C |
17: 23,951,730 (GRCm39) |
S95P |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,319,708 (GRCm39) |
|
probably null |
Het |
| Saxo2 |
T |
A |
7: 82,284,073 (GRCm39) |
I262F |
probably damaging |
Het |
| Sco1 |
C |
T |
11: 66,946,571 (GRCm39) |
R115W |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,961 (GRCm39) |
Y330* |
probably null |
Het |
| Slc6a4 |
C |
T |
11: 76,909,080 (GRCm39) |
T364I |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,377,023 (GRCm39) |
I388V |
probably benign |
Het |
| Smc6 |
C |
A |
12: 11,347,107 (GRCm39) |
|
probably benign |
Het |
| Snx25 |
C |
T |
8: 46,488,675 (GRCm39) |
W747* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,534,801 (GRCm39) |
M3686K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 4,972,212 (GRCm39) |
D8732G |
probably benign |
Het |
| Tcaf3 |
A |
G |
6: 42,574,105 (GRCm39) |
S36P |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,602,356 (GRCm39) |
|
probably null |
Het |
| Tspear |
T |
C |
10: 77,710,847 (GRCm39) |
F490L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,552,196 (GRCm39) |
I31147T |
probably damaging |
Het |
| Ugt3a1 |
A |
C |
15: 9,306,317 (GRCm39) |
E155D |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Washc2 |
G |
T |
6: 116,235,719 (GRCm39) |
Q977H |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,120,899 (GRCm39) |
W18R |
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 |
|
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'- TGCTGGAGCCTTAGTGACTC -3'
(R):5'- AGTGTGGTACTGATCATTTGCAC -3'
Sequencing Primer
(F):5'- CCCCATTAAGATAATTAGCACTGG -3'
(R):5'- ACTGATCATTTGCACCGTGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation