Incidental Mutation 'R6334:Myo1b'
| ID |
510678 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1b
|
| Ensembl Gene |
ENSMUSG00000018417 |
| Gene Name |
myosin IB |
| Synonyms |
|
| MMRRC Submission |
044488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.691)
|
| Stock # |
R6334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
51788917-51955143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51807810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 823
(K823R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018561]
[ENSMUST00000046390]
[ENSMUST00000114537]
[ENSMUST00000114541]
|
| AlphaFold |
P46735 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018561
AA Change: K823R
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000018561
Gene: ENSMUSG00000018417
AA Change: K823R
| 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
|
| SMART Domains |
Protein: ENSMUSP00000040447
Gene: ENSMUSG00000018417
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110184
Gene: ENSMUSG00000018417
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110188
Gene: ENSMUSG00000018417
| 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: ENSMUST00000140731
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145367
|
| Meta Mutation Damage Score |
0.0939 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,940 (GRCm39) |
S141T |
probably benign |
Het |
| Afap1l2 |
A |
G |
19: 56,906,408 (GRCm39) |
|
probably null |
Het |
| Aox1 |
C |
T |
1: 58,346,566 (GRCm39) |
Q567* |
probably null |
Het |
| Aqp4 |
T |
A |
18: 15,526,648 (GRCm39) |
M278L |
probably benign |
Het |
| Atp23 |
A |
C |
10: 126,723,538 (GRCm39) |
L188R |
probably benign |
Het |
| Catsperg1 |
C |
T |
7: 28,905,782 (GRCm39) |
G215D |
probably benign |
Het |
| Cavin4 |
T |
C |
4: 48,663,824 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ccl4 |
T |
C |
11: 83,553,504 (GRCm39) |
S6P |
unknown |
Het |
| Cfap46 |
T |
C |
7: 139,260,747 (GRCm39) |
E117G |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,701,662 (GRCm39) |
|
probably null |
Het |
| Chek1 |
A |
G |
9: 36,625,788 (GRCm39) |
S286P |
possibly damaging |
Het |
| Cntn4 |
G |
A |
6: 106,321,747 (GRCm39) |
V35I |
probably benign |
Het |
| Cntn4 |
C |
A |
6: 106,483,153 (GRCm39) |
P236Q |
probably benign |
Het |
| Cyp2d40 |
C |
A |
15: 82,645,753 (GRCm39) |
G84V |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,427,989 (GRCm39) |
H205L |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,453,305 (GRCm39) |
V845I |
probably benign |
Het |
| Drg1 |
T |
C |
11: 3,216,292 (GRCm39) |
K7E |
possibly damaging |
Het |
| Eloa |
G |
A |
4: 135,737,133 (GRCm39) |
P488S |
probably damaging |
Het |
| Evi5 |
G |
A |
5: 107,968,387 (GRCm39) |
R187* |
probably null |
Het |
| Fam53a |
T |
A |
5: 33,758,219 (GRCm39) |
L301F |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,235,534 (GRCm39) |
K63E |
probably damaging |
Het |
| Gast |
C |
A |
11: 100,227,438 (GRCm39) |
Q44K |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,257 (GRCm39) |
V7E |
probably benign |
Het |
| Gtf3c5 |
G |
A |
2: 28,460,474 (GRCm39) |
T375I |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hspa14 |
A |
T |
2: 3,490,109 (GRCm39) |
|
probably null |
Het |
| Kcna3 |
T |
C |
3: 106,943,740 (GRCm39) |
M1T |
probably null |
Het |
| Kcnj15 |
T |
G |
16: 95,097,095 (GRCm39) |
L239R |
probably damaging |
Het |
| Klhl2 |
G |
T |
8: 65,212,842 (GRCm39) |
D232E |
probably benign |
Het |
| Lamb3 |
A |
T |
1: 193,017,782 (GRCm39) |
I888F |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,350,551 (GRCm39) |
M919I |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,522 (GRCm39) |
V247A |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 41,679,045 (GRCm39) |
A16T |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,341,270 (GRCm39) |
I235N |
probably damaging |
Het |
| Map9 |
T |
A |
3: 82,290,612 (GRCm39) |
L492Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,322,604 (GRCm39) |
V14A |
possibly damaging |
Het |
| Nbea |
G |
T |
3: 55,944,570 (GRCm39) |
T598K |
probably damaging |
Het |
| Nrcam |
C |
A |
12: 44,619,083 (GRCm39) |
H877N |
probably benign |
Het |
| Nrxn2 |
T |
C |
19: 6,581,322 (GRCm39) |
|
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,957,596 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phyhd1 |
G |
A |
2: 30,164,736 (GRCm39) |
|
probably null |
Het |
| Pkp2 |
C |
T |
16: 16,043,933 (GRCm39) |
T229I |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,611 (GRCm39) |
P97S |
probably benign |
Het |
| Plekhh2 |
C |
A |
17: 84,874,294 (GRCm39) |
N526K |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,410,261 (GRCm39) |
L1217P |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,527,222 (GRCm39) |
S67P |
possibly damaging |
Het |
| Postn |
A |
G |
3: 54,292,703 (GRCm39) |
K757E |
probably benign |
Het |
| Prpf39 |
T |
A |
12: 65,089,587 (GRCm39) |
|
probably null |
Het |
| Ptprg |
C |
T |
14: 12,166,832 (GRCm38) |
T745I |
probably damaging |
Het |
| Pxylp1 |
C |
G |
9: 96,707,307 (GRCm39) |
A292P |
probably damaging |
Het |
| Rpl35 |
G |
T |
2: 38,891,754 (GRCm39) |
D82E |
possibly damaging |
Het |
| Slc9a1 |
G |
A |
4: 133,149,519 (GRCm39) |
V782I |
possibly damaging |
Het |
| Syn2 |
T |
A |
6: 115,240,875 (GRCm39) |
M415K |
possibly damaging |
Het |
| Tmem117 |
A |
C |
15: 94,909,324 (GRCm39) |
I246L |
probably benign |
Het |
| Tmem221 |
A |
T |
8: 72,011,428 (GRCm39) |
V9E |
probably damaging |
Het |
| Trav13-5 |
A |
G |
14: 54,033,399 (GRCm39) |
T103A |
probably damaging |
Het |
| Ubxn7 |
T |
A |
16: 32,191,007 (GRCm39) |
|
probably null |
Het |
| Vmn2r101 |
G |
T |
17: 19,810,112 (GRCm39) |
M299I |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,014,344 (GRCm39) |
S379T |
probably damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,761,440 (GRCm39) |
N639S |
probably benign |
Het |
| Wdr26 |
T |
C |
1: 181,030,771 (GRCm39) |
|
|
Het |
| Zfp109 |
T |
A |
7: 23,928,308 (GRCm39) |
Y367F |
probably damaging |
Het |
| Zfp143 |
G |
A |
7: 109,685,338 (GRCm39) |
C389Y |
probably damaging |
Het |
| Zfp553 |
G |
T |
7: 126,836,064 (GRCm39) |
|
probably null |
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 |
|
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'- ACTTCCACGGCATACTACTG -3'
(R):5'- CACTGGCTTGAGCACGTTTG -3'
Sequencing Primer
(F):5'- CGGCATACTACTGTCTAGCAC -3'
(R):5'- TGGCGGCACCTGCTTTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation