Incidental Mutation 'R6990:Myo1h'
| ID |
543193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
045096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6990 (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 114468221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 339
(S339P)
|
| 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: S339P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: S339P
| 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: S355P
| 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: S339P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
| Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
| Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
| Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
| Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
| Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
| Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
| Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
| Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
| Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
| Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
| Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
| Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
| Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
| Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
| Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
| Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,844,067 (GRCm39) |
K568N |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
| Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
| Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
| Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
| Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
| Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
| Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
| Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
| Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
| Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
| Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
| Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
| Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
| Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
| Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
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 |
|
R6891:Myo1h
|
UTSW |
5 |
114,487,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGGCTGTCCTTATGGCAC -3'
(R):5'- TCATGTTCACAGGCACAATATG -3'
Sequencing Primer
(F):5'- CAGGACTTGGATGTCTCCTTAG -3'
(R):5'- GTTCACAGGCACAATATGATGATCG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation