Incidental Mutation 'R0491:Myo1b'
ID |
42440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1b
|
Ensembl Gene |
ENSMUSG00000018417 |
Gene Name |
myosin IB |
Synonyms |
|
MMRRC Submission |
038689-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.691)
|
Stock # |
R0491 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51794857 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1078
(Y1078H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
AlphaFold |
P46735 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018561
AA Change: Y1078H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000018561 Gene: ENSMUSG00000018417 AA Change: Y1078H
Domain | Start | End | E-Value | Type |
MYSc
|
9 |
702 |
N/A |
SMART |
IQ
|
703 |
725 |
2.37e-3 |
SMART |
IQ
|
726 |
748 |
2.43e0 |
SMART |
IQ
|
749 |
771 |
5.24e-5 |
SMART |
IQ
|
778 |
800 |
4.59e0 |
SMART |
IQ
|
807 |
829 |
7.07e-2 |
SMART |
IQ
|
836 |
858 |
3.3e-2 |
SMART |
Pfam:Myosin_TH1
|
941 |
1128 |
3e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046390
AA Change: Y1049H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000040447 Gene: ENSMUSG00000018417 AA Change: Y1049H
Domain | Start | End | E-Value | Type |
MYSc
|
9 |
702 |
N/A |
SMART |
IQ
|
703 |
725 |
2.37e-3 |
SMART |
IQ
|
726 |
748 |
2.43e0 |
SMART |
IQ
|
749 |
771 |
5.24e-5 |
SMART |
IQ
|
778 |
800 |
3.68e0 |
SMART |
IQ
|
807 |
829 |
3.3e-2 |
SMART |
Pfam:Myosin_TH1
|
911 |
1107 |
3.3e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114537
AA Change: Y1020H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110184 Gene: ENSMUSG00000018417 AA Change: Y1020H
Domain | Start | End | E-Value | Type |
MYSc
|
9 |
702 |
N/A |
SMART |
IQ
|
703 |
725 |
2.37e-3 |
SMART |
IQ
|
726 |
748 |
2.43e0 |
SMART |
IQ
|
749 |
771 |
5.24e-5 |
SMART |
IQ
|
778 |
800 |
1.6e0 |
SMART |
Pfam:Myosin_TH1
|
882 |
1078 |
1.9e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114541
AA Change: Y1026H
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110188 Gene: ENSMUSG00000018417 AA Change: Y1026H
Domain | Start | End | E-Value | Type |
MYSc
|
15 |
708 |
N/A |
SMART |
IQ
|
709 |
731 |
2.37e-3 |
SMART |
IQ
|
732 |
754 |
2.43e0 |
SMART |
IQ
|
755 |
777 |
5.24e-5 |
SMART |
IQ
|
784 |
806 |
1.6e0 |
SMART |
Pfam:Myosin_TH1
|
888 |
1084 |
5.8e-52 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145367
|
Meta Mutation Damage Score |
0.0932 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,248,235 (GRCm39) |
F2661L |
probably benign |
Het |
Acadsb |
A |
G |
7: 131,031,836 (GRCm39) |
D224G |
probably benign |
Het |
Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,667,457 (GRCm39) |
D465G |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,022,851 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,679,582 (GRCm39) |
T3240A |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,555,075 (GRCm39) |
W417R |
probably damaging |
Het |
Arfgef1 |
C |
A |
1: 10,250,212 (GRCm39) |
|
probably benign |
Het |
Atf6 |
A |
G |
1: 170,614,913 (GRCm39) |
|
probably null |
Het |
Cacna1s |
T |
A |
1: 136,016,746 (GRCm39) |
|
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,287,515 (GRCm39) |
F740L |
probably benign |
Het |
Clec12a |
T |
A |
6: 129,341,016 (GRCm39) |
D265E |
probably benign |
Het |
Clic3 |
T |
A |
2: 25,347,797 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
T |
G |
13: 64,909,859 (GRCm39) |
T749P |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
Cplane1 |
T |
A |
15: 8,211,727 (GRCm39) |
S356T |
probably damaging |
Het |
Crxos |
T |
A |
7: 15,632,460 (GRCm39) |
S89T |
probably benign |
Het |
Cxcr1 |
G |
T |
1: 74,231,468 (GRCm39) |
P185T |
possibly damaging |
Het |
Cyp20a1 |
T |
A |
1: 60,410,486 (GRCm39) |
N262K |
possibly damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,411 (GRCm39) |
Q113L |
probably benign |
Het |
Dpy19l2 |
T |
C |
9: 24,607,324 (GRCm39) |
R46G |
probably benign |
Het |
Dpysl2 |
A |
T |
14: 67,045,411 (GRCm39) |
L454Q |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
Eppin |
T |
A |
2: 164,431,332 (GRCm39) |
E98V |
possibly damaging |
Het |
Fancm |
A |
T |
12: 65,152,835 (GRCm39) |
H1097L |
probably benign |
Het |
Fkbp4 |
A |
G |
6: 128,412,705 (GRCm39) |
I75T |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,409,525 (GRCm39) |
H586R |
unknown |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Haus6 |
A |
C |
4: 86,521,083 (GRCm39) |
V185G |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,772,114 (GRCm39) |
C1098S |
possibly damaging |
Het |
Hic1 |
C |
A |
11: 75,057,136 (GRCm39) |
L584F |
possibly damaging |
Het |
Itgb1bp1 |
C |
A |
12: 21,326,896 (GRCm39) |
|
probably benign |
Het |
Kbtbd2 |
G |
A |
6: 56,757,374 (GRCm39) |
R121* |
probably null |
Het |
Lgr4 |
C |
T |
2: 109,837,626 (GRCm39) |
|
probably benign |
Het |
Lrrc55 |
T |
C |
2: 85,022,264 (GRCm39) |
E309G |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,635,027 (GRCm39) |
|
probably null |
Het |
Micu3 |
A |
G |
8: 40,819,294 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,762,592 (GRCm39) |
A287V |
probably benign |
Het |
Mpzl2 |
A |
G |
9: 44,954,039 (GRCm39) |
Y47C |
probably damaging |
Het |
Muc5b |
A |
C |
7: 141,415,752 (GRCm39) |
R2899S |
probably benign |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Ncapd3 |
T |
G |
9: 26,969,179 (GRCm39) |
V611G |
probably damaging |
Het |
Ntpcr |
C |
T |
8: 126,464,093 (GRCm39) |
R73* |
probably null |
Het |
Or4c120 |
A |
T |
2: 89,000,704 (GRCm39) |
V284E |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,664,709 (GRCm39) |
F88S |
probably damaging |
Het |
Pkn3 |
A |
T |
2: 29,979,889 (GRCm39) |
T711S |
probably damaging |
Het |
Plekhm1 |
T |
C |
11: 103,285,602 (GRCm39) |
K278E |
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,486,065 (GRCm39) |
T408A |
probably benign |
Het |
Prss41 |
T |
C |
17: 24,061,477 (GRCm39) |
T105A |
possibly damaging |
Het |
Psme1 |
G |
T |
14: 55,817,378 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
T |
10: 107,444,036 (GRCm39) |
Y1523N |
probably damaging |
Het |
Ric8b |
A |
G |
10: 84,828,086 (GRCm39) |
D470G |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,375,795 (GRCm39) |
|
probably benign |
Het |
Slc25a54 |
G |
A |
3: 109,010,112 (GRCm39) |
A204T |
probably damaging |
Het |
Spink10 |
T |
C |
18: 62,793,036 (GRCm39) |
C67R |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,314,138 (GRCm39) |
|
probably null |
Het |
Tprkb |
A |
G |
6: 85,901,446 (GRCm39) |
D28G |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,910,098 (GRCm39) |
H747R |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,259,302 (GRCm39) |
S1608G |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,596,774 (GRCm39) |
F2115L |
probably damaging |
Het |
Vmn1r200 |
A |
T |
13: 22,579,361 (GRCm39) |
I46L |
probably benign |
Het |
Zdhhc8 |
A |
T |
16: 18,046,254 (GRCm39) |
M103K |
probably damaging |
Het |
Zfp595 |
C |
T |
13: 67,465,369 (GRCm39) |
G298E |
probably damaging |
Het |
Zfp738 |
T |
G |
13: 67,818,140 (GRCm39) |
H617P |
possibly damaging |
Het |
Zfp9 |
A |
T |
6: 118,442,163 (GRCm39) |
H166Q |
probably damaging |
Het |
Zp3r |
C |
A |
1: 130,546,071 (GRCm39) |
D80Y |
probably damaging |
Het |
|
Other mutations in Myo1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00540:Myo1b
|
APN |
1 |
51,803,113 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00943:Myo1b
|
APN |
1 |
51,823,646 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01537:Myo1b
|
APN |
1 |
51,815,510 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01550:Myo1b
|
APN |
1 |
51,823,690 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01610:Myo1b
|
APN |
1 |
51,815,405 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01667:Myo1b
|
APN |
1 |
51,799,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01743:Myo1b
|
APN |
1 |
51,821,179 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01830:Myo1b
|
APN |
1 |
51,836,624 (GRCm39) |
nonsense |
probably null |
|
IGL02070:Myo1b
|
APN |
1 |
51,833,496 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02398:Myo1b
|
APN |
1 |
51,797,050 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02582:Myo1b
|
APN |
1 |
51,821,133 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02685:Myo1b
|
APN |
1 |
51,817,658 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Myo1b
|
APN |
1 |
51,840,337 (GRCm39) |
splice site |
probably null |
|
IGL02981:Myo1b
|
APN |
1 |
51,817,532 (GRCm39) |
missense |
probably damaging |
1.00 |
Philemon
|
UTSW |
1 |
51,812,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
Phyllo
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347_myo1b_243
|
UTSW |
1 |
51,790,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R0007:Myo1b
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R0007:Myo1b
|
UTSW |
1 |
51,815,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R0035:Myo1b
|
UTSW |
1 |
51,817,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Myo1b
|
UTSW |
1 |
51,821,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Myo1b
|
UTSW |
1 |
51,821,148 (GRCm39) |
missense |
probably damaging |
1.00 |
R0959:Myo1b
|
UTSW |
1 |
51,836,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1171:Myo1b
|
UTSW |
1 |
51,817,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Myo1b
|
UTSW |
1 |
51,817,717 (GRCm39) |
splice site |
probably benign |
|
R1539:Myo1b
|
UTSW |
1 |
51,838,722 (GRCm39) |
missense |
probably damaging |
0.97 |
R1616:Myo1b
|
UTSW |
1 |
51,815,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Myo1b
|
UTSW |
1 |
51,799,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1888:Myo1b
|
UTSW |
1 |
51,799,562 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2697:Myo1b
|
UTSW |
1 |
51,902,517 (GRCm39) |
missense |
probably benign |
0.04 |
R3034:Myo1b
|
UTSW |
1 |
51,812,406 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3720:Myo1b
|
UTSW |
1 |
51,815,505 (GRCm39) |
missense |
possibly damaging |
0.79 |
R3896:Myo1b
|
UTSW |
1 |
51,812,420 (GRCm39) |
missense |
probably damaging |
0.97 |
R4003:Myo1b
|
UTSW |
1 |
51,838,689 (GRCm39) |
critical splice donor site |
probably null |
|
R4179:Myo1b
|
UTSW |
1 |
51,817,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R4308:Myo1b
|
UTSW |
1 |
51,922,268 (GRCm39) |
missense |
probably benign |
0.01 |
R4444:Myo1b
|
UTSW |
1 |
51,797,078 (GRCm39) |
missense |
probably damaging |
0.99 |
R4679:Myo1b
|
UTSW |
1 |
51,797,132 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4914:Myo1b
|
UTSW |
1 |
51,863,367 (GRCm39) |
splice site |
probably null |
|
R5343:Myo1b
|
UTSW |
1 |
51,817,696 (GRCm39) |
missense |
probably benign |
0.00 |
R5530:Myo1b
|
UTSW |
1 |
51,836,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R5636:Myo1b
|
UTSW |
1 |
51,836,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R5956:Myo1b
|
UTSW |
1 |
51,815,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R5974:Myo1b
|
UTSW |
1 |
51,817,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R6334:Myo1b
|
UTSW |
1 |
51,807,810 (GRCm39) |
missense |
probably null |
0.36 |
R6346:Myo1b
|
UTSW |
1 |
51,823,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R6382:Myo1b
|
UTSW |
1 |
51,813,466 (GRCm39) |
splice site |
probably null |
|
R6757:Myo1b
|
UTSW |
1 |
51,852,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6952:Myo1b
|
UTSW |
1 |
51,801,668 (GRCm39) |
missense |
probably damaging |
0.99 |
R7101:Myo1b
|
UTSW |
1 |
51,797,160 (GRCm39) |
missense |
probably benign |
0.19 |
R7192:Myo1b
|
UTSW |
1 |
51,796,376 (GRCm39) |
missense |
probably damaging |
0.99 |
R7347:Myo1b
|
UTSW |
1 |
51,790,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R7446:Myo1b
|
UTSW |
1 |
51,803,065 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7468:Myo1b
|
UTSW |
1 |
51,836,639 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7503:Myo1b
|
UTSW |
1 |
51,815,761 (GRCm39) |
splice site |
probably null |
|
R7586:Myo1b
|
UTSW |
1 |
51,817,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R7712:Myo1b
|
UTSW |
1 |
51,832,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R7871:Myo1b
|
UTSW |
1 |
51,818,739 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7905:Myo1b
|
UTSW |
1 |
51,803,043 (GRCm39) |
splice site |
probably null |
|
R8093:Myo1b
|
UTSW |
1 |
51,797,034 (GRCm39) |
critical splice donor site |
probably null |
|
R8485:Myo1b
|
UTSW |
1 |
51,818,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8705:Myo1b
|
UTSW |
1 |
51,902,495 (GRCm39) |
nonsense |
probably null |
|
R8731:Myo1b
|
UTSW |
1 |
51,799,570 (GRCm39) |
splice site |
probably benign |
|
R8735:Myo1b
|
UTSW |
1 |
51,794,896 (GRCm39) |
missense |
probably benign |
0.27 |
R8859:Myo1b
|
UTSW |
1 |
51,836,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R9021:Myo1b
|
UTSW |
1 |
51,821,142 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9416:Myo1b
|
UTSW |
1 |
51,902,577 (GRCm39) |
missense |
probably damaging |
0.99 |
R9583:Myo1b
|
UTSW |
1 |
51,796,404 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9713:Myo1b
|
UTSW |
1 |
51,818,766 (GRCm39) |
missense |
possibly damaging |
0.50 |
X0065:Myo1b
|
UTSW |
1 |
51,836,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGGAACCTTTGGATCTGTCTCC -3'
(R):5'- GATGAACCAGTCCTGTCCTTACTGC -3'
Sequencing Primer
(F):5'- GCCAAAATCATGTTACCTGCTGG -3'
(R):5'- ACTGCTCATCTGAGATGATGTCC -3'
|
Posted On |
2013-05-23 |