Incidental Mutation 'IGL02685:Myo1b'
ID |
303539 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Myo1b
|
Ensembl Gene |
ENSMUSG00000018417 |
Gene Name |
myosin IB |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.673)
|
Stock # |
IGL02685
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51817658 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 535
(Y535H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
AlphaFold |
P46735 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: Y535H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000018561 Gene: ENSMUSG00000018417 AA Change: Y535H
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: Y535H
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000040447 Gene: ENSMUSG00000018417 AA Change: Y535H
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: Y535H
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110184 Gene: ENSMUSG00000018417 AA Change: Y535H
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: Y541H
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110188 Gene: ENSMUSG00000018417 AA Change: Y541H
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: ENSMUST00000126952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136273
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136701
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
T |
C |
12: 118,869,682 (GRCm39) |
Y779C |
probably damaging |
Het |
Acad10 |
A |
G |
5: 121,770,672 (GRCm39) |
F532L |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,123,323 (GRCm39) |
|
probably null |
Het |
Akr1d1 |
T |
C |
6: 37,507,278 (GRCm39) |
|
probably benign |
Het |
Aqp11 |
A |
G |
7: 97,386,759 (GRCm39) |
Y146H |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,779,557 (GRCm39) |
L168Q |
probably damaging |
Het |
Ces2f |
C |
T |
8: 105,679,730 (GRCm39) |
Q277* |
probably null |
Het |
Cmya5 |
G |
A |
13: 93,227,505 (GRCm39) |
Q2528* |
probably null |
Het |
Col22a1 |
A |
G |
15: 71,673,764 (GRCm39) |
V984A |
unknown |
Het |
Col5a3 |
T |
C |
9: 20,683,501 (GRCm39) |
D1557G |
unknown |
Het |
Cpb1 |
A |
T |
3: 20,319,520 (GRCm39) |
V188E |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ephb1 |
G |
T |
9: 101,918,302 (GRCm39) |
Y402* |
probably null |
Het |
Foxm1 |
T |
C |
6: 128,350,070 (GRCm39) |
L319S |
possibly damaging |
Het |
Gmppb |
T |
C |
9: 107,927,118 (GRCm39) |
|
probably benign |
Het |
Grid2 |
T |
G |
6: 64,322,800 (GRCm39) |
M600R |
possibly damaging |
Het |
Gstm6 |
T |
C |
3: 107,848,507 (GRCm39) |
K57E |
probably benign |
Het |
Hars2 |
T |
G |
18: 36,924,171 (GRCm39) |
S422A |
probably benign |
Het |
Igdcc4 |
T |
C |
9: 65,041,107 (GRCm39) |
M1092T |
possibly damaging |
Het |
Ighv13-1 |
C |
A |
12: 114,231,403 (GRCm39) |
|
probably benign |
Het |
Iqgap2 |
C |
A |
13: 95,807,912 (GRCm39) |
R785L |
probably damaging |
Het |
Kalrn |
G |
A |
16: 34,334,329 (GRCm39) |
Q8* |
probably null |
Het |
Mms22l |
A |
G |
4: 24,591,133 (GRCm39) |
T1035A |
probably benign |
Het |
Neb |
T |
A |
2: 52,065,313 (GRCm39) |
K6234N |
possibly damaging |
Het |
Nlrp9c |
A |
G |
7: 26,084,982 (GRCm39) |
I199T |
probably damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,134 (GRCm39) |
F304I |
possibly damaging |
Het |
Or4c108 |
T |
A |
2: 88,803,365 (GRCm39) |
N290I |
possibly damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,357 (GRCm39) |
T77K |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
Osmr |
T |
C |
15: 6,845,054 (GRCm39) |
E904G |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,162,628 (GRCm39) |
*831W |
probably null |
Het |
Prkdc |
T |
C |
16: 15,653,907 (GRCm39) |
V3888A |
possibly damaging |
Het |
Scn9a |
C |
A |
2: 66,367,637 (GRCm39) |
S693I |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,534 (GRCm39) |
T379A |
probably benign |
Het |
Ska1 |
T |
A |
18: 74,330,119 (GRCm39) |
H207L |
probably benign |
Het |
Slc17a9 |
C |
A |
2: 180,375,602 (GRCm39) |
Q175K |
probably damaging |
Het |
Slc38a2 |
G |
A |
15: 96,589,306 (GRCm39) |
T396I |
probably benign |
Het |
Slc9a4 |
A |
C |
1: 40,668,742 (GRCm39) |
H795P |
probably benign |
Het |
Sorbs2 |
C |
T |
8: 46,256,877 (GRCm39) |
T955I |
probably benign |
Het |
Spata4 |
A |
T |
8: 55,053,963 (GRCm39) |
H43L |
probably benign |
Het |
Ss18l2 |
G |
A |
9: 121,539,484 (GRCm39) |
A6T |
possibly damaging |
Het |
Sult1e1 |
C |
T |
5: 87,727,765 (GRCm39) |
W172* |
probably null |
Het |
Tlcd1 |
T |
C |
11: 78,070,363 (GRCm39) |
|
probably benign |
Het |
Tmc8 |
T |
C |
11: 117,683,400 (GRCm39) |
S652P |
probably damaging |
Het |
Vps37b |
T |
C |
5: 124,148,874 (GRCm39) |
S54G |
probably damaging |
Het |
Wdr26 |
A |
T |
1: 181,011,345 (GRCm39) |
S511T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,477,213 (GRCm39) |
Y3251C |
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 |
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 |
R0491:Myo1b
|
UTSW |
1 |
51,794,857 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|
Posted On |
2015-04-16 |