Incidental Mutation 'R3896:Myo1b'
| ID |
310522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
040807-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R3896 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51812420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 739
(V739E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110188
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: V733E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: V733E
| 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: V733E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: V733E
| 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: V733E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: V733E
| 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: V739E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: V739E
| 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: ENSMUST00000136273
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140731
|
| Meta Mutation Damage Score |
0.5076 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
A |
T |
3: 146,356,868 (GRCm39) |
N13K |
possibly damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Arhgap20 |
A |
T |
9: 51,728,137 (GRCm39) |
I117F |
probably damaging |
Het |
| Asz1 |
A |
G |
6: 18,075,766 (GRCm39) |
I269T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,263,589 (GRCm39) |
|
probably null |
Het |
| Atp8b2 |
A |
T |
3: 89,864,626 (GRCm39) |
I163K |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,640,980 (GRCm39) |
F700L |
probably damaging |
Het |
| Ccdc80 |
A |
G |
16: 44,916,984 (GRCm39) |
D580G |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,540,392 (GRCm39) |
|
probably benign |
Het |
| Cyp2c66 |
T |
C |
19: 39,130,722 (GRCm39) |
V112A |
possibly damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,755,610 (GRCm39) |
C356S |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,409,598 (GRCm39) |
*331W |
probably null |
Het |
| Enpp3 |
A |
C |
10: 24,653,847 (GRCm39) |
S703R |
possibly damaging |
Het |
| Fam13b |
T |
C |
18: 34,596,008 (GRCm39) |
|
probably benign |
Het |
| Foxp1 |
T |
A |
6: 99,052,897 (GRCm39) |
Q97L |
probably benign |
Het |
| Gdf10 |
A |
T |
14: 33,656,438 (GRCm39) |
N467Y |
probably damaging |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Gsn |
T |
C |
2: 35,192,650 (GRCm39) |
S522P |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,235,711 (GRCm39) |
F1899I |
possibly damaging |
Het |
| Ints1 |
C |
A |
5: 139,743,399 (GRCm39) |
E1658* |
probably null |
Het |
| Jakmip2 |
A |
T |
18: 43,682,751 (GRCm39) |
F691Y |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 65,004,333 (GRCm39) |
F60S |
probably damaging |
Het |
| Loxhd1 |
C |
T |
18: 77,469,719 (GRCm39) |
S992L |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,812,440 (GRCm39) |
|
probably null |
Het |
| Macf1 |
A |
T |
4: 123,364,987 (GRCm39) |
I3258N |
possibly damaging |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Matcap1 |
T |
A |
8: 106,009,920 (GRCm39) |
H343L |
probably benign |
Het |
| Naa35 |
C |
T |
13: 59,755,109 (GRCm39) |
T185I |
probably damaging |
Het |
| Or10v9 |
T |
C |
19: 11,832,951 (GRCm39) |
D122G |
probably damaging |
Het |
| Or4c15b |
A |
G |
2: 89,113,441 (GRCm39) |
F33S |
possibly damaging |
Het |
| Reg4 |
A |
T |
3: 98,132,082 (GRCm39) |
|
probably benign |
Het |
| Rnaseh2b |
A |
C |
14: 62,597,906 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,946,302 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,933,379 (GRCm39) |
M1528L |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,006,609 (GRCm39) |
T228S |
probably damaging |
Het |
| Sgo2a |
T |
C |
1: 58,052,805 (GRCm39) |
C202R |
probably damaging |
Het |
| Slc25a46 |
A |
G |
18: 31,716,725 (GRCm39) |
L259P |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,345,625 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
G |
T |
9: 99,757,636 (GRCm39) |
H34Q |
probably damaging |
Het |
| Syna |
T |
A |
5: 134,587,165 (GRCm39) |
K595* |
probably null |
Het |
| Taf4 |
A |
G |
2: 179,573,807 (GRCm39) |
V687A |
probably benign |
Het |
| Tmbim7 |
C |
T |
5: 3,711,916 (GRCm39) |
H54Y |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,067 (GRCm39) |
M89V |
probably benign |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,093 (GRCm39) |
Y261C |
probably benign |
Het |
| Xkr4 |
A |
G |
1: 3,286,414 (GRCm39) |
I592T |
probably damaging |
Het |
| Ywhah |
A |
G |
5: 33,184,349 (GRCm39) |
Y184C |
probably damaging |
Het |
| Zkscan16 |
C |
T |
4: 58,946,125 (GRCm39) |
|
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 |
|
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'- CCTGGAGATCAGAGCAAAGTACTC -3'
(R):5'- TGCGCCATTAGGTTTAGACG -3'
Sequencing Primer
(F):5'- ACACTCTGGAAATGCTTAGGCTC -3'
(R):5'- CCATTAGGTTTAGACGACTTTGGC -3'
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| Posted On |
2015-04-17 |
Incidental Mutation