Incidental Mutation 'R7586:Myo1b'
| ID |
587116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
045668-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R7586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 51817483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 593
(I593S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018561
AA Change: I593S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: I593S
| 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: I593S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
AA Change: I593S
| 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: I593S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
AA Change: I593S
| 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: I599S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
AA Change: I599S
| 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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankdd1a |
C |
T |
9: 65,409,466 (GRCm39) |
|
probably null |
Het |
| Ankrd31 |
A |
G |
13: 96,968,562 (GRCm39) |
E733G |
possibly damaging |
Het |
| Cars2 |
C |
T |
8: 11,580,321 (GRCm39) |
W239* |
probably null |
Het |
| Catsperz |
A |
T |
19: 6,899,929 (GRCm39) |
L192* |
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,099,173 (GRCm39) |
R642W |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,237,975 (GRCm39) |
|
probably null |
Het |
| Cfh |
C |
T |
1: 140,075,459 (GRCm39) |
V260M |
probably damaging |
Het |
| Clcn4 |
T |
A |
7: 7,296,958 (GRCm39) |
S227C |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
| Col27a1 |
C |
A |
4: 63,143,278 (GRCm39) |
A322D |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,238,082 (GRCm39) |
G934S |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,734,510 (GRCm39) |
V665A |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,073,275 (GRCm39) |
T2433A |
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,215,011 (GRCm39) |
N848S |
possibly damaging |
Het |
| Fbrsl1 |
A |
C |
5: 110,526,020 (GRCm39) |
F61V |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,349,683 (GRCm39) |
Y1595H |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 52,963,256 (GRCm39) |
N213D |
probably benign |
Het |
| Gab2 |
C |
T |
7: 96,950,645 (GRCm39) |
P446L |
probably damaging |
Het |
| Ganab |
A |
T |
19: 8,888,716 (GRCm39) |
Y552F |
possibly damaging |
Het |
| Gfy |
C |
T |
7: 44,826,962 (GRCm39) |
R378Q |
probably damaging |
Het |
| Gm3285 |
T |
C |
10: 77,697,875 (GRCm39) |
V8A |
unknown |
Het |
| Grip1 |
A |
T |
10: 119,913,043 (GRCm39) |
|
probably null |
Het |
| Gtf3c3 |
A |
G |
1: 54,442,752 (GRCm39) |
L764P |
probably damaging |
Het |
| Igfbp2 |
A |
T |
1: 72,888,307 (GRCm39) |
M150L |
probably benign |
Het |
| Jakmip2 |
C |
T |
18: 43,673,676 (GRCm39) |
R796Q |
probably damaging |
Het |
| Jpt1 |
T |
A |
11: 115,389,021 (GRCm39) |
R141W |
probably damaging |
Het |
| Junb |
T |
C |
8: 85,704,802 (GRCm39) |
E86G |
probably damaging |
Het |
| Klhl41 |
A |
T |
2: 69,505,068 (GRCm39) |
D457V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 26,977,389 (GRCm39) |
Y1930C |
probably benign |
Het |
| Med13 |
A |
T |
11: 86,161,828 (GRCm39) |
I2167N |
probably damaging |
Het |
| Msh3 |
A |
G |
13: 92,485,840 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,548,345 (GRCm39) |
T16S |
possibly damaging |
Het |
| Ndufaf4 |
C |
T |
4: 24,901,829 (GRCm39) |
L126F |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,256,721 (GRCm39) |
N113I |
possibly damaging |
Het |
| Or5d43 |
T |
A |
2: 88,104,794 (GRCm39) |
I200F |
probably damaging |
Het |
| Or5g23 |
G |
C |
2: 85,438,528 (GRCm39) |
S242C |
probably damaging |
Het |
| Or5p6 |
T |
A |
7: 107,631,128 (GRCm39) |
T141S |
probably benign |
Het |
| Pabpc6 |
A |
T |
17: 9,887,611 (GRCm39) |
D313E |
probably damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,428,857 (GRCm39) |
G277* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,756,226 (GRCm39) |
V840G |
probably damaging |
Het |
| Pip4k2c |
A |
G |
10: 127,034,955 (GRCm39) |
F415S |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,779 (GRCm39) |
E1112G |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,797,206 (GRCm39) |
D847G |
probably damaging |
Het |
| Qrich2 |
C |
T |
11: 116,346,450 (GRCm39) |
R1458H |
probably benign |
Het |
| Rdh11 |
T |
C |
12: 79,231,957 (GRCm39) |
Y199C |
probably damaging |
Het |
| Resf1 |
A |
T |
6: 149,228,291 (GRCm39) |
N446Y |
possibly damaging |
Het |
| Scamp3 |
A |
G |
3: 89,087,673 (GRCm39) |
Y171C |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,743 (GRCm39) |
S312P |
probably damaging |
Het |
| Slain2 |
G |
A |
5: 73,123,165 (GRCm39) |
S461N |
probably benign |
Het |
| Slc23a1 |
G |
A |
18: 35,758,891 (GRCm39) |
T100I |
probably damaging |
Het |
| Spata31d1b |
T |
A |
13: 59,866,194 (GRCm39) |
I1114N |
probably damaging |
Het |
| Spinkl |
A |
G |
18: 44,307,656 (GRCm39) |
S2P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,457 (GRCm39) |
N173S |
probably damaging |
Het |
| Stk24 |
C |
T |
14: 121,539,699 (GRCm39) |
A166T |
probably damaging |
Het |
| Supt16 |
A |
T |
14: 52,411,013 (GRCm39) |
V697E |
probably damaging |
Het |
| Taf6l |
C |
T |
19: 8,761,210 (GRCm39) |
E53K |
probably damaging |
Het |
| Tmem81 |
A |
T |
1: 132,435,511 (GRCm39) |
I106F |
probably damaging |
Het |
| Tnxb |
C |
A |
17: 34,935,382 (GRCm39) |
L2561I |
probably damaging |
Het |
| Top3b |
G |
A |
16: 16,709,232 (GRCm39) |
R640H |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,652,085 (GRCm39) |
S1463T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Tubal3 |
A |
C |
13: 3,978,198 (GRCm39) |
D38A |
possibly damaging |
Het |
| Vps13a |
T |
A |
19: 16,624,962 (GRCm39) |
I2766F |
probably benign |
Het |
| Wwc1 |
A |
T |
11: 35,735,022 (GRCm39) |
V951E |
possibly damaging |
Het |
| Zfp777 |
A |
T |
6: 48,006,152 (GRCm39) |
M414K |
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 |
|
|
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'- CCAAGGGCAAGGATCTGATC -3'
(R):5'- ACCTGTCTCAAGCCATGTG -3'
Sequencing Primer
(F):5'- TGATCAGATAGCAAATCCCCTACTGG -3'
(R):5'- CTGTCTCAAGCCATGTGGAAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation