Incidental Mutation 'R8874:Myo1h'
| ID |
676464 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
068744-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8874 (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 114472163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 414
(I414L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132905
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124316
AA Change: I398L
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: I398L
| 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: I414L
| 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: I398L
| 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 |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,875,671 (GRCm39) |
M615V |
possibly damaging |
Het |
| Bud31 |
T |
C |
5: 145,079,379 (GRCm39) |
|
probably null |
Het |
| Calhm4 |
A |
G |
10: 33,920,264 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc42 |
A |
G |
11: 68,485,396 (GRCm39) |
K105E |
probably damaging |
Het |
| Cenpq |
A |
G |
17: 41,242,551 (GRCm39) |
S93P |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,014,159 (GRCm39) |
F1222L |
probably damaging |
Het |
| Cpxm2 |
A |
T |
7: 131,708,010 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,365,157 (GRCm39) |
D1627G |
possibly damaging |
Het |
| Diras2 |
T |
C |
13: 52,661,737 (GRCm39) |
E190G |
possibly damaging |
Het |
| Dpyd |
G |
C |
3: 118,792,981 (GRCm39) |
A563P |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,640,569 (GRCm39) |
N343K |
|
Het |
| Gbp2b |
A |
G |
3: 142,314,040 (GRCm39) |
E440G |
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,355,891 (GRCm39) |
F30L |
probably benign |
Het |
| Gm3404 |
T |
A |
5: 146,464,953 (GRCm39) |
V231E |
possibly damaging |
Het |
| Gramd4 |
A |
G |
15: 85,985,093 (GRCm39) |
H143R |
probably damaging |
Het |
| Greb1l |
A |
T |
18: 10,544,896 (GRCm39) |
E1408V |
probably benign |
Het |
| Hdgfl1 |
T |
G |
13: 26,954,007 (GRCm39) |
Y22S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,445,793 (GRCm39) |
V1590D |
probably damaging |
Het |
| Hecw2 |
A |
T |
1: 53,943,608 (GRCm39) |
|
probably benign |
Het |
| Igkv8-30 |
C |
A |
6: 70,094,150 (GRCm39) |
R87L |
probably damaging |
Het |
| Il18rap |
T |
A |
1: 40,564,506 (GRCm39) |
C179S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,487,684 (GRCm39) |
K589R |
probably benign |
Het |
| Jph4 |
T |
C |
14: 55,351,534 (GRCm39) |
T161A |
possibly damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,896 (GRCm39) |
M17K |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,056,209 (GRCm39) |
N699S |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,582,643 (GRCm39) |
|
probably null |
Het |
| Lca5 |
A |
G |
9: 83,277,503 (GRCm39) |
F614L |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,812,147 (GRCm39) |
V853A |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,523 (GRCm39) |
T1406S |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,771,617 (GRCm39) |
I552V |
possibly damaging |
Het |
| Myom1 |
A |
G |
17: 71,413,199 (GRCm39) |
K1271E |
probably damaging |
Het |
| Or14j5 |
A |
T |
17: 38,161,675 (GRCm39) |
K64M |
probably damaging |
Het |
| Or2n1b |
T |
A |
17: 38,459,623 (GRCm39) |
V48E |
possibly damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,069 (GRCm39) |
F192S |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,859,785 (GRCm39) |
D1168E |
possibly damaging |
Het |
| Prr5 |
T |
C |
15: 84,583,916 (GRCm39) |
M181T |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,744,168 (GRCm39) |
I151T |
probably damaging |
Het |
| Ptpn7 |
T |
C |
1: 135,067,004 (GRCm39) |
V287A |
possibly damaging |
Het |
| Ptprz1 |
T |
C |
6: 23,042,747 (GRCm39) |
V2057A |
|
Het |
| Rad17 |
G |
T |
13: 100,754,327 (GRCm39) |
A631E |
probably benign |
Het |
| Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
| Slc22a2 |
A |
T |
17: 12,828,866 (GRCm39) |
D324V |
probably benign |
Het |
| Strc |
C |
T |
2: 121,205,353 (GRCm39) |
|
probably null |
Het |
| Taf4b |
T |
G |
18: 14,963,127 (GRCm39) |
D622E |
probably benign |
Het |
| Tgfbrap1 |
A |
C |
1: 43,114,973 (GRCm39) |
N42K |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,628,943 (GRCm39) |
F375L |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,877,999 (GRCm39) |
I466T |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,956,617 (GRCm39) |
K2E |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,881,772 (GRCm39) |
T1274A |
|
Het |
| Vwa3b |
C |
T |
1: 37,074,839 (GRCm39) |
A2V |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,116,394 (GRCm39) |
V2092A |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,946,135 (GRCm39) |
S1055P |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,754,815 (GRCm39) |
T982A |
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 |
|
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 |
|
|
|
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'- CCTAGCCATTCACATGCTGC -3'
(R):5'- TGTTCAAAGCCCGCACATCC -3'
Sequencing Primer
(F):5'- ATTCACATGCTGCCCTGAC -3'
(R):5'- ATCCACTGCCAGCCCTG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation