Incidental Mutation 'R0346:Myo1h'
| ID |
34260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1h
|
| Ensembl Gene |
ENSMUSG00000066952 |
| Gene Name |
myosin 1H |
| Synonyms |
4631401O15Rik |
| MMRRC Submission |
038553-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0346 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 114493270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 704
(T704S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124316]
[ENSMUST00000169347]
[ENSMUST00000196467]
[ENSMUST00000196676]
[ENSMUST00000202006]
[ENSMUST00000199567]
|
| AlphaFold |
Q9D6A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124316
AA Change: T704S
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118824
Gene: ENSMUSG00000066952
AA Change: T704S
| 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 |
noncoding transcript
Transcript: ENSMUST00000128379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169347
AA Change: T720S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132905
Gene: ENSMUSG00000066952
AA Change: T720S
| 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 benign
Transcript: ENSMUST00000196467
|
| SMART Domains |
Protein: ENSMUSP00000144133
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:MYSc
|
1 |
52 |
7e-10 |
BLAST |
|
Pfam:Myosin_TH1
|
70 |
181 |
1.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196676
|
| SMART Domains |
Protein: ENSMUSP00000144682
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
204 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197773
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202006
AA Change: T704S
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144110
Gene: ENSMUSG00000066952
AA Change: T704S
| 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 benign
Transcript: ENSMUST00000199567
|
| SMART Domains |
Protein: ENSMUSP00000144492
Gene: ENSMUSG00000066952
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Myosin_TH1
|
25 |
213 |
4.2e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.4%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,516,278 (GRCm39) |
I4406L |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,035,155 (GRCm39) |
C314S |
probably damaging |
Het |
| Add3 |
C |
T |
19: 53,205,387 (GRCm39) |
R46* |
probably null |
Het |
| Alas1 |
A |
T |
9: 106,120,550 (GRCm39) |
S82T |
possibly damaging |
Het |
| Alkbh5 |
C |
G |
11: 60,429,567 (GRCm39) |
R107G |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,582,479 (GRCm39) |
R365* |
probably null |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| AU021092 |
T |
C |
16: 5,034,718 (GRCm39) |
D168G |
possibly damaging |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Caln1 |
C |
A |
5: 130,851,762 (GRCm39) |
H184N |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,759,315 (GRCm39) |
V372A |
probably damaging |
Het |
| Ccng2 |
T |
G |
5: 93,418,753 (GRCm39) |
I126S |
probably damaging |
Het |
| Cep85 |
A |
T |
4: 133,859,733 (GRCm39) |
N643K |
probably damaging |
Het |
| Clvs2 |
G |
C |
10: 33,498,542 (GRCm39) |
S129R |
possibly damaging |
Het |
| Cntn1 |
G |
T |
15: 92,129,968 (GRCm39) |
|
probably benign |
Het |
| Cttn |
A |
T |
7: 144,006,276 (GRCm39) |
|
probably benign |
Het |
| Dedd2 |
T |
C |
7: 24,910,694 (GRCm39) |
S161G |
possibly damaging |
Het |
| Dnajb13 |
T |
C |
7: 100,153,132 (GRCm39) |
D263G |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,687 (GRCm39) |
|
probably benign |
Het |
| Ear2 |
A |
G |
14: 44,340,363 (GRCm39) |
E7G |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,345,452 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
G |
T |
2: 20,764,463 (GRCm39) |
|
probably null |
Het |
| Fbxo15 |
T |
A |
18: 84,978,346 (GRCm39) |
|
probably null |
Het |
| Gm9970 |
A |
G |
5: 31,398,182 (GRCm39) |
|
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,246,855 (GRCm39) |
S17P |
probably benign |
Het |
| Hgd |
C |
T |
16: 37,409,136 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
T |
C |
6: 38,386,370 (GRCm39) |
C364R |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,292,392 (GRCm39) |
L16Q |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,183 (GRCm39) |
D404G |
probably damaging |
Het |
| Islr2 |
G |
A |
9: 58,105,626 (GRCm39) |
R545* |
probably null |
Het |
| Itgav |
G |
T |
2: 83,622,953 (GRCm39) |
C675F |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,967,695 (GRCm39) |
I403L |
possibly damaging |
Het |
| Kif14 |
T |
A |
1: 136,395,898 (GRCm39) |
I68N |
probably damaging |
Het |
| Kif26a |
G |
T |
12: 112,145,782 (GRCm39) |
K1764N |
probably null |
Het |
| Lrrd1 |
C |
A |
5: 3,900,215 (GRCm39) |
F173L |
probably benign |
Het |
| Mroh4 |
G |
C |
15: 74,486,141 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,248,864 (GRCm39) |
V723A |
probably benign |
Het |
| Mybph |
T |
G |
1: 134,125,492 (GRCm39) |
I279S |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,151,152 (GRCm39) |
I1936L |
probably benign |
Het |
| Nav2 |
C |
A |
7: 49,254,333 (GRCm39) |
T2377K |
probably benign |
Het |
| Nipbl |
T |
G |
15: 8,390,440 (GRCm39) |
Q276H |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,758,440 (GRCm39) |
L559P |
probably damaging |
Het |
| Nup210l |
T |
A |
3: 90,096,745 (GRCm39) |
V1318E |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,283 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or4z4 |
A |
T |
19: 12,076,803 (GRCm39) |
S67T |
probably damaging |
Het |
| Or6c8b |
C |
A |
10: 128,882,342 (GRCm39) |
V197F |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,225,707 (GRCm39) |
S170P |
probably benign |
Het |
| P2ry13 |
T |
C |
3: 59,116,987 (GRCm39) |
T264A |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,198,710 (GRCm39) |
L966P |
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,637,404 (GRCm39) |
K58R |
probably benign |
Het |
| Ptafr |
T |
A |
4: 132,307,390 (GRCm39) |
L260* |
probably null |
Het |
| Pum1 |
A |
T |
4: 130,507,116 (GRCm39) |
T1157S |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
A |
G |
11: 44,445,991 (GRCm39) |
Y275C |
probably damaging |
Het |
| Rpl6 |
A |
T |
5: 121,346,554 (GRCm39) |
K218N |
possibly damaging |
Het |
| Rps6 |
T |
C |
4: 86,774,218 (GRCm39) |
T128A |
probably benign |
Het |
| Ryr1 |
G |
T |
7: 28,767,013 (GRCm39) |
|
probably benign |
Het |
| Scel |
A |
T |
14: 103,767,420 (GRCm39) |
Q26H |
probably damaging |
Het |
| Sfxn4 |
A |
T |
19: 60,847,111 (GRCm39) |
D57E |
probably benign |
Het |
| Slc35d1 |
A |
C |
4: 103,048,044 (GRCm39) |
L240R |
probably damaging |
Het |
| Smcr8 |
A |
G |
11: 60,670,576 (GRCm39) |
I575V |
probably benign |
Het |
| Spata31e4 |
T |
C |
13: 50,857,346 (GRCm39) |
Y995H |
probably benign |
Het |
| Syk |
G |
A |
13: 52,794,695 (GRCm39) |
M476I |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,348,539 (GRCm39) |
|
probably benign |
Het |
| Tob2 |
C |
A |
15: 81,742,424 (GRCm39) |
G65W |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,731,520 (GRCm39) |
N464D |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,332,776 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
A |
5: 114,768,590 (GRCm39) |
|
probably benign |
Het |
| Tsga10 |
T |
A |
1: 37,879,600 (GRCm39) |
T64S |
possibly damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
C |
A |
7: 11,403,621 (GRCm39) |
V276L |
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,655,333 (GRCm39) |
K1898N |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,645 (GRCm39) |
M823V |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,484 (GRCm39) |
|
probably benign |
Het |
| Zfp763 |
A |
T |
17: 33,238,721 (GRCm39) |
H141Q |
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 |
|
|
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 |
|
|
|
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'- AGGATGAGCTATGAACTGGGCACC -3'
(R):5'- TGTGCTACGATCTCGGAACTAGGC -3'
Sequencing Primer
(F):5'- TATGAACTGGGCACCTAGCAC -3'
(R):5'- TCGGAACTAGGCCCGAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation