Incidental Mutation 'R6346:Myo1b'
| ID |
513936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
044500-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R6346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51823666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 413
(C413Y)
|
| 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: C407Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: C407Y
| 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: C407Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: C407Y
| 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: C407Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: C407Y
| 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: C413Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: C413Y
| 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: ENSMUST00000136701
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
| Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
| Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
| Cd244a |
T |
C |
1: 171,404,889 (GRCm39) |
V247A |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,803,326 (GRCm39) |
I244K |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
| Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,595,253 (GRCm39) |
Q183R |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
| Fam20c |
T |
C |
5: 138,752,450 (GRCm39) |
F279S |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
| Slc27a5 |
T |
A |
7: 12,724,899 (GRCm39) |
E487V |
possibly damaging |
Het |
| Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
| Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
| Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
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 |
|
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 |
|
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'- TTACACTGGAACCTAAGAGATGG -3'
(R):5'- TGACTCATGAGCCATTCCCC -3'
Sequencing Primer
(F):5'- TGACAACCTACTATGTGCCAGGTG -3'
(R):5'- TCGCAAAGCACGTCTGTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation