Incidental Mutation 'R0959:Myo1b'
| ID |
81743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
039088-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R0959 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51836246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 315
(I315N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
[ENSMUST00000144694]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: I315N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: I315N
| 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 damaging
Transcript: ENSMUST00000046390
AA Change: I315N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: I315N
| 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 damaging
Transcript: ENSMUST00000114537
AA Change: I315N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: I315N
| 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 damaging
Transcript: ENSMUST00000114541
AA Change: I321N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: I321N
| 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 |
noncoding transcript
Transcript: ENSMUST00000136701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144694
|
| SMART Domains |
Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
299 |
4.69e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 95.8%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,808,434 (GRCm39) |
V919A |
probably damaging |
Het |
| Adam28 |
G |
A |
14: 68,845,387 (GRCm39) |
P761L |
possibly damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,965,566 (GRCm39) |
C525S |
possibly damaging |
Het |
| Aplf |
G |
A |
6: 87,623,065 (GRCm39) |
P338L |
probably benign |
Het |
| Arl5b |
T |
A |
2: 15,077,942 (GRCm39) |
I89N |
probably damaging |
Het |
| Asap2 |
T |
C |
12: 21,297,320 (GRCm39) |
V596A |
probably damaging |
Het |
| Baz1b |
T |
G |
5: 135,273,076 (GRCm39) |
F1400C |
probably damaging |
Het |
| Ccdc149 |
A |
T |
5: 52,542,497 (GRCm39) |
L365Q |
probably damaging |
Het |
| Ccdc60 |
A |
G |
5: 116,318,870 (GRCm39) |
S149P |
probably damaging |
Het |
| Ces1b |
A |
G |
8: 93,794,775 (GRCm39) |
C275R |
probably damaging |
Het |
| Creb3 |
T |
C |
4: 43,563,509 (GRCm39) |
L163P |
probably damaging |
Het |
| Dhx37 |
T |
G |
5: 125,500,496 (GRCm39) |
N570T |
probably benign |
Het |
| Epc1 |
T |
C |
18: 6,453,657 (GRCm39) |
N223D |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,208,885 (GRCm39) |
H143Y |
possibly damaging |
Het |
| Gfod1 |
A |
T |
13: 43,456,905 (GRCm39) |
D23E |
probably benign |
Het |
| Gm7361 |
A |
T |
5: 26,467,051 (GRCm39) |
E223D |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,274,415 (GRCm39) |
K161E |
probably damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,158,366 (GRCm39) |
N1617S |
possibly damaging |
Het |
| Med13l |
A |
T |
5: 118,892,350 (GRCm39) |
E1924D |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Mtg2 |
T |
G |
2: 179,725,221 (GRCm39) |
S145A |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,062,454 (GRCm39) |
S1442N |
probably benign |
Het |
| Naip2 |
G |
A |
13: 100,291,386 (GRCm39) |
T1184M |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,291,419 (GRCm39) |
H1173L |
probably benign |
Het |
| Nsrp1 |
G |
A |
11: 76,937,285 (GRCm39) |
R304* |
probably null |
Het |
| Or2a56 |
G |
T |
6: 42,932,686 (GRCm39) |
V85L |
probably benign |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,885,576 (GRCm39) |
F1552L |
unknown |
Het |
| Pigw |
G |
A |
11: 84,769,033 (GRCm39) |
H99Y |
probably benign |
Het |
| Ppp6r2 |
G |
A |
15: 89,158,379 (GRCm39) |
M444I |
possibly damaging |
Het |
| Rchy1 |
A |
G |
5: 92,105,476 (GRCm39) |
F82L |
probably damaging |
Het |
| Reln |
A |
C |
5: 22,432,626 (GRCm39) |
F125V |
probably damaging |
Het |
| Riok1 |
G |
A |
13: 38,241,149 (GRCm39) |
E435K |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,407 (GRCm39) |
R3590G |
probably damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,704 (GRCm39) |
E394G |
probably damaging |
Het |
| Scrib |
G |
C |
15: 75,923,310 (GRCm39) |
P1249A |
probably benign |
Het |
| Shc4 |
C |
T |
2: 125,520,607 (GRCm39) |
|
probably null |
Het |
| Slc12a2 |
T |
A |
18: 58,037,450 (GRCm39) |
I520N |
probably damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,021,959 (GRCm39) |
I484T |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,354,899 (GRCm39) |
T110K |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,884,970 (GRCm39) |
S774T |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,184,129 (GRCm39) |
P557L |
probably damaging |
Het |
| Tada1 |
A |
G |
1: 166,216,198 (GRCm39) |
D133G |
probably benign |
Het |
| Tg |
A |
T |
15: 66,579,859 (GRCm39) |
T1555S |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,644,455 (GRCm39) |
E15G |
possibly damaging |
Het |
| Timd5 |
A |
T |
11: 46,427,247 (GRCm39) |
R187* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,625,440 (GRCm39) |
I15128F |
probably damaging |
Het |
| Ube2r2 |
A |
G |
4: 41,174,066 (GRCm39) |
Y68C |
probably damaging |
Het |
| Uncx |
A |
T |
5: 139,532,442 (GRCm39) |
N169I |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,743,786 (GRCm39) |
Y483C |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,897 (GRCm39) |
D431G |
probably damaging |
Het |
| Xylb |
C |
A |
9: 119,209,091 (GRCm39) |
A311E |
possibly damaging |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb39 |
C |
A |
10: 127,578,931 (GRCm39) |
H502N |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,755,876 (GRCm39) |
L402P |
probably damaging |
Het |
| Zpbp2 |
G |
A |
11: 98,448,451 (GRCm39) |
R256Q |
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 |
|
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 |
|
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'- ACATCTGGAGAGATGCCACCAAGAC -3'
(R):5'- TATCACCGCAGTGAAGTTCTCGCC -3'
Sequencing Primer
(F):5'- AGAACCTTGTGTGATGATCCTCAG -3'
(R):5'- AGTGAAGTTCTCGCCCTTCTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation