Incidental Mutation 'R7121:Myo1h'
ID |
551997 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1h
|
Ensembl Gene |
ENSMUSG00000066952 |
Gene Name |
myosin 1H |
Synonyms |
4631401O15Rik |
MMRRC Submission |
045210-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7121 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
114427314-114502637 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 114476290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 493
(V493A)
|
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: V477A
PolyPhen 2
Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118824 Gene: ENSMUSG00000066952 AA Change: V477A
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: V493A
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: V477A
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 |
|
Meta Mutation Damage Score |
0.1199 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
C |
T |
19: 42,041,112 (GRCm39) |
A81V |
probably benign |
Het |
Abcc9 |
A |
T |
6: 142,634,853 (GRCm39) |
L137* |
probably null |
Het |
Akap10 |
A |
G |
11: 61,777,524 (GRCm39) |
|
probably null |
Het |
Alms1 |
T |
A |
6: 85,601,604 (GRCm39) |
Y1683N |
probably damaging |
Het |
Atl1 |
A |
G |
12: 69,978,408 (GRCm39) |
S127G |
probably damaging |
Het |
Cadm1 |
G |
A |
9: 47,710,708 (GRCm39) |
V204M |
probably damaging |
Het |
Cbr3 |
T |
A |
16: 93,487,438 (GRCm39) |
I207N |
probably damaging |
Het |
Ccdc148 |
A |
T |
2: 58,717,579 (GRCm39) |
Y475N |
probably damaging |
Het |
Ccdc33 |
A |
T |
9: 57,988,167 (GRCm39) |
S144T |
probably benign |
Het |
Ceacam5 |
C |
A |
7: 17,479,462 (GRCm39) |
A193E |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,119,418 (GRCm39) |
D1042G |
probably benign |
Het |
Chmp5 |
A |
T |
4: 40,952,217 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,717,567 (GRCm39) |
N467I |
probably damaging |
Het |
D130040H23Rik |
T |
C |
8: 69,754,931 (GRCm39) |
V112A |
probably damaging |
Het |
Dbh |
A |
T |
2: 27,058,318 (GRCm39) |
D162V |
probably damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnm2 |
C |
T |
9: 21,385,862 (GRCm39) |
T295I |
probably benign |
Het |
Faiml |
A |
C |
9: 99,116,446 (GRCm39) |
D81E |
probably benign |
Het |
Fer1l4 |
T |
A |
2: 155,886,477 (GRCm39) |
Y720F |
probably benign |
Het |
Fn1 |
A |
C |
1: 71,639,697 (GRCm39) |
|
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,143,123 (GRCm39) |
E397G |
probably damaging |
Het |
Gm16506 |
T |
C |
14: 43,964,817 (GRCm39) |
K42E |
|
Het |
Gpr179 |
A |
G |
11: 97,225,556 (GRCm39) |
S2200P |
probably benign |
Het |
Gusb |
T |
C |
5: 130,028,884 (GRCm39) |
D202G |
probably benign |
Het |
Hspe1 |
A |
G |
1: 55,128,310 (GRCm39) |
E35G |
probably damaging |
Het |
Kptn |
T |
A |
7: 15,857,023 (GRCm39) |
H170Q |
probably damaging |
Het |
Lama3 |
G |
A |
18: 12,595,839 (GRCm39) |
A923T |
probably benign |
Het |
Lmo7 |
T |
A |
14: 102,124,471 (GRCm39) |
I432K |
probably damaging |
Het |
Maneal |
G |
A |
4: 124,750,905 (GRCm39) |
P284S |
probably benign |
Het |
Mrgbp |
A |
G |
2: 180,224,682 (GRCm39) |
T28A |
probably benign |
Het |
Naxd |
T |
C |
8: 11,556,745 (GRCm39) |
L122P |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,397,020 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
A |
11: 58,904,078 (GRCm39) |
R7299* |
probably null |
Het |
Odf2l |
G |
A |
3: 144,845,581 (GRCm39) |
V363I |
possibly damaging |
Het |
Or2g25 |
T |
C |
17: 37,970,699 (GRCm39) |
H175R |
probably damaging |
Het |
Or2t35 |
A |
G |
14: 14,407,998 (GRCm38) |
T257A |
possibly damaging |
Het |
Or4c100 |
A |
T |
2: 88,356,170 (GRCm39) |
D81V |
probably damaging |
Het |
Or52a5b |
A |
T |
7: 103,416,940 (GRCm39) |
Y221* |
probably null |
Het |
Or5b105 |
T |
A |
19: 13,080,537 (GRCm39) |
I44F |
probably benign |
Het |
Otud3 |
G |
A |
4: 138,624,067 (GRCm39) |
P325L |
probably benign |
Het |
Palb2 |
T |
C |
7: 121,724,057 (GRCm39) |
N564S |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,263,761 (GRCm39) |
V401A |
possibly damaging |
Het |
Plcd4 |
G |
A |
1: 74,604,524 (GRCm39) |
E767K |
probably benign |
Het |
Ppp3ca |
T |
C |
3: 136,574,387 (GRCm39) |
F95S |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,569,821 (GRCm39) |
T56A |
probably benign |
Het |
Psma2 |
T |
A |
13: 14,799,815 (GRCm39) |
D186E |
probably benign |
Het |
Psmd11 |
T |
A |
11: 80,329,099 (GRCm39) |
Y72* |
probably null |
Het |
Ror1 |
G |
A |
4: 100,160,142 (GRCm39) |
D53N |
probably benign |
Het |
Rubcn |
C |
T |
16: 32,656,839 (GRCm39) |
R527Q |
probably damaging |
Het |
Sgca |
G |
A |
11: 94,860,373 (GRCm39) |
P255S |
possibly damaging |
Het |
Skint11 |
A |
T |
4: 114,084,993 (GRCm39) |
R167S |
probably benign |
Het |
Slco5a1 |
A |
G |
1: 13,060,661 (GRCm39) |
V20A |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,970 (GRCm39) |
S159P |
probably benign |
Het |
Taar2 |
T |
G |
10: 23,816,725 (GRCm39) |
S88R |
probably damaging |
Het |
Tacc3 |
T |
A |
5: 33,824,509 (GRCm39) |
N378K |
possibly damaging |
Het |
Tek |
A |
G |
4: 94,699,647 (GRCm39) |
K342E |
probably benign |
Het |
Tm9sf3 |
G |
T |
19: 41,233,944 (GRCm39) |
S198* |
probably null |
Het |
Tmbim4 |
T |
A |
10: 120,051,514 (GRCm39) |
F56I |
possibly damaging |
Het |
Tsen34 |
T |
A |
7: 3,697,986 (GRCm39) |
S85T |
probably benign |
Het |
Ttc27 |
C |
A |
17: 75,054,710 (GRCm39) |
Q339K |
probably benign |
Het |
Ubap2 |
G |
T |
4: 41,205,550 (GRCm39) |
P636T |
probably benign |
Het |
Ubr1 |
G |
A |
2: 120,705,979 (GRCm39) |
L1495F |
probably benign |
Het |
Vsig10 |
T |
C |
5: 117,481,967 (GRCm39) |
S386P |
probably damaging |
Het |
Wnk2 |
C |
A |
13: 49,300,653 (GRCm39) |
R19L |
probably benign |
Het |
Wsb2 |
T |
C |
5: 117,508,944 (GRCm39) |
L126P |
probably damaging |
Het |
Xylb |
A |
G |
9: 119,211,358 (GRCm39) |
I402V |
probably benign |
Het |
Yrdc |
A |
G |
4: 124,744,748 (GRCm39) |
S61G |
probably benign |
Het |
Zbtb3 |
A |
G |
19: 8,780,771 (GRCm39) |
D128G |
probably damaging |
Het |
Zfp423 |
C |
T |
8: 88,507,489 (GRCm39) |
G952R |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,478,944 (GRCm39) |
T374A |
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 |
|
|
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'- ACTTGATGGCGCACCCTTTC -3'
(R):5'- GTCACAGTGCTGTATGTATCATG -3'
Sequencing Primer
(F):5'- CCTCCCACTGGCCTCATGG -3'
(R):5'- GTCTCTCACTGAACCTGGAGC -3'
|
Posted On |
2019-05-15 |