Incidental Mutation 'R9583:Myo1b'
| ID |
722634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R9583 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51796404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 1007
(I1007V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
| AlphaFold |
P46735 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018561
AA Change: I1007V
PolyPhen 2
Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: I1007V
| 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 benign
Transcript: ENSMUST00000046390
AA Change: I978V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: I978V
| 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 benign
Transcript: ENSMUST00000114537
AA Change: I949V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: I949V
| 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 benign
Transcript: ENSMUST00000114541
AA Change: I955V
PolyPhen 2
Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: I955V
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,862,092 (GRCm39) |
I66N |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,760,071 (GRCm39) |
I97F |
probably benign |
Het |
| AI987944 |
T |
A |
7: 41,023,937 (GRCm39) |
R350S |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,109,096 (GRCm39) |
T1214A |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,356,739 (GRCm39) |
E127G |
possibly damaging |
Het |
| Bbx |
T |
C |
16: 50,044,920 (GRCm39) |
E547G |
possibly damaging |
Het |
| Ceacam16 |
T |
C |
7: 19,587,803 (GRCm39) |
I322V |
probably damaging |
Het |
| Chd2 |
G |
T |
7: 73,130,230 (GRCm39) |
N808K |
probably damaging |
Het |
| Copg2 |
A |
C |
6: 30,787,399 (GRCm39) |
L615* |
probably null |
Het |
| Cyp21a1 |
A |
G |
17: 35,022,017 (GRCm39) |
L221P |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,856,507 (GRCm39) |
V2885L |
probably damaging |
Het |
| Dnajb13 |
A |
G |
7: 100,152,446 (GRCm39) |
L290P |
probably damaging |
Het |
| Eif3e |
A |
G |
15: 43,128,957 (GRCm39) |
V221A |
probably damaging |
Het |
| Evc |
G |
A |
5: 37,473,701 (GRCm39) |
R511* |
probably null |
Het |
| Far2 |
C |
T |
6: 148,059,434 (GRCm39) |
P250S |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,686,996 (GRCm39) |
T44S |
|
Het |
| Grid1 |
A |
G |
14: 35,302,492 (GRCm39) |
E919G |
possibly damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,725 (GRCm39) |
E30G |
probably damaging |
Het |
| Il5ra |
G |
A |
6: 106,689,331 (GRCm39) |
P75L |
unknown |
Het |
| Il5ra |
T |
A |
6: 106,721,297 (GRCm39) |
M1L |
possibly damaging |
Het |
| Inpp4b |
T |
C |
8: 82,497,555 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
T |
A |
12: 119,153,708 (GRCm39) |
H269L |
possibly damaging |
Het |
| Jrk |
G |
A |
15: 74,578,403 (GRCm39) |
A294V |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,887,782 (GRCm39) |
D2V |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,258 (GRCm39) |
I272V |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,372 (GRCm39) |
S3825P |
probably damaging |
Het |
| Mex3d |
C |
A |
10: 80,218,129 (GRCm39) |
V363L |
|
Het |
| Mfsd13b |
C |
A |
7: 120,598,134 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mllt1 |
G |
T |
17: 57,209,572 (GRCm39) |
H179Q |
probably benign |
Het |
| Mmp14 |
A |
T |
14: 54,678,069 (GRCm39) |
R563S |
probably benign |
Het |
| Ms4a18 |
T |
C |
19: 10,974,714 (GRCm39) |
T326A |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,549,973 (GRCm39) |
D5440G |
probably benign |
Het |
| Muc2 |
A |
T |
7: 141,300,559 (GRCm39) |
E294V |
|
Het |
| Myh7b |
A |
G |
2: 155,459,641 (GRCm39) |
N241S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,893 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4a77 |
A |
G |
2: 89,487,005 (GRCm39) |
V260A |
possibly damaging |
Het |
| Or8g33 |
T |
A |
9: 39,337,851 (GRCm39) |
D172V |
possibly damaging |
Het |
| Pan2 |
T |
C |
10: 128,140,135 (GRCm39) |
S19P |
probably benign |
Het |
| Pkn3 |
A |
G |
2: 29,976,723 (GRCm39) |
D588G |
probably null |
Het |
| Pkp4 |
A |
G |
2: 59,178,104 (GRCm39) |
N988D |
possibly damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,824,844 (GRCm39) |
D344G |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,192,169 (GRCm39) |
R807H |
possibly damaging |
Het |
| Potefam3b |
T |
A |
8: 21,174,962 (GRCm39) |
F285I |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,623,142 (GRCm39) |
S237T |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,531,642 (GRCm39) |
M661R |
possibly damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,721,061 (GRCm39) |
V10M |
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,024,800 (GRCm39) |
S263P |
probably benign |
Het |
| Taf7l2 |
A |
T |
10: 115,948,931 (GRCm39) |
D198E |
probably benign |
Het |
| Trrap |
G |
A |
5: 144,777,330 (GRCm39) |
V3043M |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,470,492 (GRCm39) |
T827I |
possibly damaging |
Het |
| Ttll1 |
T |
C |
15: 83,384,226 (GRCm39) |
T134A |
possibly damaging |
Het |
| Vmn1r196 |
G |
T |
13: 22,477,920 (GRCm39) |
M186I |
probably damaging |
Het |
| Vrk2 |
C |
T |
11: 26,433,157 (GRCm39) |
|
probably null |
Het |
| Zfp59 |
T |
A |
7: 27,554,483 (GRCm39) |
V645E |
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 |
|
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 |
|
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'- AGGAGCCCATCTGTCAAGTC -3'
(R):5'- CTGTGGACACAAACATACATATGC -3'
Sequencing Primer
(F):5'- ATCTGTCAAGTCACCAGGTG -3'
(R):5'- CACAAACATACATATGCACACATAC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation