Incidental Mutation 'IGL02938:Myo1b'
ID |
364447 |
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: 0.691)
|
Stock # |
IGL02938
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
Type of Mutation |
splice site (6 bp from exon) |
DNA Base Change (assembly) |
A to C
at 51840337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
[ENSMUST00000144694]
|
AlphaFold |
P46735 |
Predicted Effect |
probably null
Transcript: ENSMUST00000018561
|
SMART Domains |
Protein: ENSMUSP00000018561 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000046390
|
SMART Domains |
Protein: ENSMUSP00000040447 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000114537
|
SMART Domains |
Protein: ENSMUSP00000110184 Gene: ENSMUSG00000018417
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 null
Transcript: ENSMUST00000114541
|
SMART Domains |
Protein: ENSMUSP00000110188 Gene: ENSMUSG00000018417
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: ENSMUST00000135125
|
Predicted Effect |
probably null
Transcript: ENSMUST00000144694
|
SMART Domains |
Protein: ENSMUSP00000114603 Gene: ENSMUSG00000018417
Domain | Start | End | E-Value | Type |
MYSc
|
9 |
299 |
4.69e-32 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
Cyp2c29 |
T |
A |
19: 39,275,567 (GRCm39) |
D2E |
probably damaging |
Het |
Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
Lrrc8a |
C |
T |
2: 30,145,698 (GRCm39) |
R171W |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,497,000 (GRCm39) |
Y819H |
probably damaging |
Het |
Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,789,761 (GRCm39) |
S792P |
probably damaging |
Het |
Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,995,696 (GRCm39) |
|
probably benign |
Het |
Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
probably benign |
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 |
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 |
2015-12-18 |