Incidental Mutation 'R7838:Myo1h'
| ID |
628725 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
045892-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7838 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 114466872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000202006]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000124316
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
| 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 null
Transcript: ENSMUST00000169347
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
| 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 null
Transcript: ENSMUST00000202006
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
| 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: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
A |
10: 87,042,061 (GRCm39) |
|
probably null |
Het |
| 4930522H14Rik |
G |
A |
4: 109,362,776 (GRCm39) |
A181V |
probably damaging |
Het |
| Alk |
A |
T |
17: 72,274,549 (GRCm39) |
H587Q |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,604,393 (GRCm39) |
Y1371C |
probably benign |
Het |
| Asxl1 |
T |
C |
2: 153,238,733 (GRCm39) |
F354S |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,824,211 (GRCm39) |
I551F |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,347,149 (GRCm39) |
E1068G |
probably benign |
Het |
| Cdc27 |
A |
T |
11: 104,403,830 (GRCm39) |
M644K |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,668,635 (GRCm39) |
V456A |
probably benign |
Het |
| Ctxn1 |
A |
G |
8: 4,308,461 (GRCm39) |
Y57H |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,688 (GRCm39) |
I248T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,211,834 (GRCm39) |
T1878A |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,561 (GRCm39) |
V117A |
probably benign |
Het |
| Dennd5a |
G |
T |
7: 109,533,196 (GRCm39) |
F191L |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,819,619 (GRCm39) |
R851H |
possibly damaging |
Het |
| Eif3l |
G |
A |
15: 78,973,799 (GRCm39) |
D405N |
possibly damaging |
Het |
| Espn |
T |
A |
4: 152,215,738 (GRCm39) |
D507V |
possibly damaging |
Het |
| Fam83f |
A |
T |
15: 80,576,704 (GRCm39) |
S452C |
possibly damaging |
Het |
| Fbxo22 |
A |
C |
9: 55,125,651 (GRCm39) |
E171D |
probably damaging |
Het |
| Fgl2 |
T |
C |
5: 21,577,752 (GRCm39) |
V13A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,044 (GRCm39) |
H1121R |
probably benign |
Het |
| G0s2 |
A |
T |
1: 192,955,081 (GRCm39) |
M1K |
probably null |
Het |
| Gnptab |
G |
A |
10: 88,276,254 (GRCm39) |
|
probably null |
Het |
| Grm1 |
G |
A |
10: 10,956,096 (GRCm39) |
P63S |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,823,523 (GRCm39) |
|
probably benign |
Het |
| Hcfc1r1 |
G |
A |
17: 23,892,985 (GRCm39) |
G10D |
probably damaging |
Het |
| Hdac1-ps |
A |
C |
17: 78,799,447 (GRCm39) |
E146A |
probably damaging |
Het |
| Igsf11 |
T |
C |
16: 38,827,565 (GRCm39) |
V41A |
possibly damaging |
Het |
| Il17a |
C |
A |
1: 20,802,351 (GRCm39) |
A20E |
probably benign |
Het |
| Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,499,697 (GRCm39) |
M481T |
possibly damaging |
Het |
| Krt40 |
A |
T |
11: 99,430,961 (GRCm39) |
C263S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,938,540 (GRCm39) |
V441A |
possibly damaging |
Het |
| Lrwd1 |
T |
C |
5: 136,160,983 (GRCm39) |
E300G |
probably damaging |
Het |
| Mcoln3 |
G |
T |
3: 145,845,230 (GRCm39) |
W475C |
probably damaging |
Het |
| Mdga1 |
A |
G |
17: 30,058,796 (GRCm39) |
I30T |
probably benign |
Het |
| Mmd |
T |
A |
11: 90,158,433 (GRCm39) |
V181D |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,752,558 (GRCm38) |
L812* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,414,729 (GRCm39) |
D2561G |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,027,481 (GRCm39) |
E1251V |
|
Het |
| Myl12a |
G |
T |
17: 71,303,166 (GRCm39) |
N95K |
probably benign |
Het |
| Myrf |
G |
A |
19: 10,196,983 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ncf1 |
A |
G |
5: 134,250,949 (GRCm39) |
V330A |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,533,287 (GRCm39) |
D638G |
probably damaging |
Het |
| Nkapl |
T |
C |
13: 21,651,437 (GRCm39) |
K392R |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,293 (GRCm39) |
V192A |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,514 (GRCm39) |
C184* |
probably null |
Het |
| Or8b50 |
A |
G |
9: 38,517,708 (GRCm39) |
|
probably benign |
Het |
| Pelo |
T |
A |
13: 115,226,184 (GRCm39) |
N91I |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,395,850 (GRCm39) |
N836D |
probably benign |
Het |
| Pwp2 |
A |
T |
10: 78,018,778 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
G |
A |
4: 53,517,657 (GRCm39) |
V127I |
probably benign |
Het |
| Snx13 |
A |
G |
12: 35,155,174 (GRCm39) |
T413A |
probably benign |
Het |
| Spaca7 |
C |
T |
8: 12,635,696 (GRCm39) |
P71S |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,637 (GRCm39) |
M1296K |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,656,890 (GRCm39) |
A978V |
probably benign |
Het |
| Tcerg1 |
A |
G |
18: 42,670,002 (GRCm39) |
E494G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,997,626 (GRCm39) |
V821A |
probably benign |
Het |
| Tg |
T |
A |
15: 66,565,112 (GRCm39) |
D1151E |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,283,384 (GRCm39) |
E1040G |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,233,655 (GRCm39) |
N79K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Yars2 |
T |
G |
16: 16,122,385 (GRCm39) |
|
probably null |
Het |
| Ylpm1 |
A |
G |
12: 85,095,640 (GRCm39) |
I1847V |
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 |
|
|
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'- CCAATTGTCAAGGAGGTGGTG -3'
(R):5'- CCTCACTGCTGTGCTTTAGG -3'
Sequencing Primer
(F):5'- TCAAGGAGGTGGTGCTGACC -3'
(R):5'- GCACCCAGGATGATTGCAAGTTC -3'
|
| Posted On |
2020-06-17 |
Incidental Mutation