Incidental Mutation 'R6787:Myo1h'
| ID |
532426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 114458714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 150
(G150R)
|
| 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: G150R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: G150R
| 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 |
unknown
Transcript: ENSMUST00000169347
AA Change: G166R
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: G166R
| 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: G150R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: G150R
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpeb3 |
T |
C |
19: 37,022,089 (GRCm39) |
I569V |
possibly damaging |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,363,902 (GRCm39) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,834 (GRCm39) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,882,213 (GRCm39) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
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 |
|
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'- CTGTGCCCAAATATGGCATTAGG -3'
(R):5'- GCTCATGAATGCAGCCATATG -3'
Sequencing Primer
(F):5'- GGCATTAGGATTGTATCTTCTGAAC -3'
(R):5'- GCACTTGCATGCTTGAGC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation