Incidental Mutation 'R5530:Myo1b'
| ID |
433609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
043088-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.673)
|
| Stock # |
R5530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51836582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 293
(N293I)
|
| 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: N293I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: N293I
| 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: N293I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: N293I
| 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: N293I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: N293I
| 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: N299I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: N299I
| 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 damaging
Transcript: ENSMUST00000144694
AA Change: N293I
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114603
Gene: ENSMUSG00000018417
AA Change: N293I
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
9 |
299 |
4.69e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.3%
- 20x: 91.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,154,556 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,174,595 (GRCm39) |
K653E |
possibly damaging |
Het |
| Aplp1 |
T |
C |
7: 30,136,254 (GRCm39) |
S508G |
possibly damaging |
Het |
| Bend3 |
T |
A |
10: 43,387,722 (GRCm39) |
V705D |
probably damaging |
Het |
| Btaf1 |
C |
A |
19: 36,968,175 (GRCm39) |
A1120E |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,731,081 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,802,459 (GRCm39) |
Y238* |
probably null |
Het |
| Cep170 |
T |
C |
1: 176,597,076 (GRCm39) |
H427R |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,313,334 (GRCm39) |
R3079W |
probably damaging |
Het |
| Edc4 |
G |
T |
8: 106,615,886 (GRCm39) |
E694* |
probably null |
Het |
| Entrep1 |
T |
A |
19: 23,952,958 (GRCm39) |
T451S |
probably benign |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Fbxo46 |
T |
C |
7: 18,870,727 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ficd |
C |
A |
5: 113,876,986 (GRCm39) |
P387Q |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,721 (GRCm39) |
T942A |
probably benign |
Het |
| Hoxb1 |
G |
C |
11: 96,257,754 (GRCm39) |
R228P |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,962,917 (GRCm39) |
F103S |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,845,836 (GRCm39) |
I402V |
probably benign |
Het |
| Mtcl2 |
T |
A |
2: 156,862,262 (GRCm39) |
S1556C |
probably damaging |
Het |
| Mvp |
A |
G |
7: 126,595,095 (GRCm39) |
V250A |
probably benign |
Het |
| Npy5r |
T |
A |
8: 67,133,512 (GRCm39) |
Y427F |
probably benign |
Het |
| Nrdc |
C |
T |
4: 108,904,806 (GRCm39) |
T747M |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,548,397 (GRCm39) |
P30L |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,656,857 (GRCm39) |
F332S |
probably damaging |
Het |
| Optc |
T |
G |
1: 133,832,828 (GRCm39) |
T91P |
probably benign |
Het |
| Or14j10 |
A |
G |
17: 37,934,698 (GRCm39) |
I276T |
possibly damaging |
Het |
| Or8b12c |
A |
G |
9: 37,716,103 (GRCm39) |
T299A |
probably benign |
Het |
| Otud7b |
A |
T |
3: 96,048,799 (GRCm39) |
E92V |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,226 (GRCm39) |
L314P |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,100,036 (GRCm39) |
I677T |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,778,893 (GRCm39) |
E67G |
probably damaging |
Het |
| Ppil6 |
T |
C |
10: 41,383,494 (GRCm39) |
S257P |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,988,791 (GRCm39) |
L11P |
probably benign |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,232 (GRCm39) |
M445K |
probably benign |
Het |
| Rad21l |
A |
T |
2: 151,499,430 (GRCm39) |
I257K |
probably benign |
Het |
| Rbm11 |
A |
G |
16: 75,389,861 (GRCm39) |
D9G |
possibly damaging |
Het |
| Rhbdf2 |
T |
C |
11: 116,491,488 (GRCm39) |
Y586C |
probably damaging |
Het |
| Rxfp2 |
A |
T |
5: 149,980,275 (GRCm39) |
I276F |
probably damaging |
Het |
| Sec14l4 |
A |
G |
11: 3,996,342 (GRCm39) |
*404W |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,329,264 (GRCm39) |
V917A |
probably benign |
Het |
| Sec61a2 |
A |
T |
2: 5,887,461 (GRCm39) |
Y131* |
probably null |
Het |
| Sspo |
A |
T |
6: 48,442,517 (GRCm39) |
Y2004F |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,783,026 (GRCm39) |
E674G |
probably benign |
Het |
| Tmf1 |
A |
G |
6: 97,135,048 (GRCm39) |
S989P |
probably damaging |
Het |
| Tshz1 |
T |
C |
18: 84,031,393 (GRCm39) |
D1005G |
probably damaging |
Het |
| Wdr19 |
T |
C |
5: 65,385,562 (GRCm39) |
S555P |
probably benign |
Het |
| Zdhhc24 |
T |
A |
19: 4,933,591 (GRCm39) |
|
probably null |
Het |
| Zfp558 |
A |
G |
9: 18,367,669 (GRCm39) |
M373T |
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 |
|
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 |
|
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'- AAGGGCGAGAACTTCACTGC -3'
(R):5'- AGTCACAGTTTGGATCCACCTATG -3'
Sequencing Primer
(F):5'- TCACTGCGGTGATATTTATGTTTAG -3'
(R):5'- TGTTAAAACAAGTAAACAGCAACAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation