Incidental Mutation 'R7714:Myo1c'
| ID |
594799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
045772-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R7714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75549519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 166
(Y166H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
[ENSMUST00000136935]
|
| AlphaFold |
Q9WTI7 |
| PDB Structure |
Crystal Structure of Myosin-1c tail in complex with Calmodulin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069057
AA Change: Y166H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: Y166H
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
697 |
N/A |
SMART |
|
IQ
|
698 |
720 |
3.85e-3 |
SMART |
|
IQ
|
721 |
743 |
2.09e-4 |
SMART |
|
Blast:MYSc
|
751 |
780 |
5e-9 |
BLAST |
|
low complexity region
|
804 |
815 |
N/A |
INTRINSIC |
|
Pfam:Myosin_TH1
|
838 |
1024 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102504
AA Change: Y166H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: Y166H
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
5 |
697 |
N/A |
SMART |
|
IQ
|
698 |
720 |
3.85e-3 |
SMART |
|
IQ
|
721 |
743 |
2.09e-4 |
SMART |
|
Blast:MYSc
|
751 |
780 |
5e-9 |
BLAST |
|
low complexity region
|
804 |
815 |
N/A |
INTRINSIC |
|
Pfam:Myosin_TH1
|
838 |
1024 |
1.9e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102505
AA Change: Y201H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: Y201H
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
40 |
732 |
N/A |
SMART |
|
IQ
|
733 |
755 |
3.85e-3 |
SMART |
|
IQ
|
756 |
778 |
2.09e-4 |
SMART |
|
Blast:MYSc
|
786 |
815 |
6e-9 |
BLAST |
|
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
|
Pfam:Myosin_TH1
|
874 |
1052 |
2.9e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108431
AA Change: Y182H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: Y182H
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
21 |
713 |
N/A |
SMART |
|
IQ
|
714 |
736 |
3.85e-3 |
SMART |
|
IQ
|
737 |
759 |
2.09e-4 |
SMART |
|
Blast:MYSc
|
767 |
796 |
5e-9 |
BLAST |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
Pfam:Myosin_TH1
|
854 |
1040 |
3.3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136935
|
| SMART Domains |
Protein: ENSMUSP00000121267
Gene: ENSMUSG00000017774
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
PDB:4BYF|C
|
39 |
80 |
5e-21 |
PDB |
|
Blast:MYSc
|
43 |
80 |
9e-19 |
BLAST |
|
SCOP:d1lkxa_
|
50 |
80 |
3e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
97% (63/65) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The protein functions in intracellular vesicle transport to the plasma membrane. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in (Y61G) mutation that sensitizes to N6-modified ADP analogs display altered fast adaption in vestibular hair cells. Mice homozygous for a nuclear isoform-specifc knock-out allele exhibit minor changes in bone marrow density and red blood cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,587 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
A |
4: 156,279,854 (GRCm39) |
D106Y |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,192,352 (GRCm39) |
Y416N |
probably benign |
Het |
| Atp6v0a2 |
C |
T |
5: 124,775,533 (GRCm39) |
T135M |
probably damaging |
Het |
| Bach1 |
C |
A |
16: 87,515,736 (GRCm39) |
Y92* |
probably null |
Het |
| Catsperg1 |
A |
C |
7: 28,884,907 (GRCm39) |
C905G |
probably null |
Het |
| Cbr2 |
T |
C |
11: 120,620,628 (GRCm39) |
I219V |
probably benign |
Het |
| Ccdc3 |
A |
T |
2: 5,233,908 (GRCm39) |
K244I |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,265,433 (GRCm39) |
V237A |
probably damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,319 (GRCm39) |
C81R |
probably benign |
Het |
| Col27a1 |
T |
C |
4: 63,242,723 (GRCm39) |
|
probably null |
Het |
| Cracdl |
T |
A |
1: 37,663,858 (GRCm39) |
Q680L |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,379,236 (GRCm39) |
S673T |
probably benign |
Het |
| Csmd2 |
T |
A |
4: 128,276,743 (GRCm39) |
Y848* |
probably null |
Het |
| Dgkb |
C |
A |
12: 38,680,592 (GRCm39) |
T764K |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,775,648 (GRCm39) |
C530* |
probably null |
Het |
| Dpyd |
A |
G |
3: 118,597,780 (GRCm39) |
K254R |
probably benign |
Het |
| Dstyk |
C |
T |
1: 132,384,614 (GRCm39) |
P703S |
possibly damaging |
Het |
| Ehhadh |
A |
T |
16: 21,585,140 (GRCm39) |
I247N |
probably damaging |
Het |
| Fer1l5 |
T |
G |
1: 36,440,558 (GRCm39) |
L597R |
probably damaging |
Het |
| Fignl1 |
T |
C |
11: 11,752,842 (GRCm39) |
E71G |
probably damaging |
Het |
| Fnip2 |
A |
C |
3: 79,425,421 (GRCm39) |
V58G |
probably damaging |
Het |
| Gapdhs |
A |
T |
7: 30,431,349 (GRCm39) |
I377N |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,733,359 (GRCm39) |
A1059V |
probably damaging |
Het |
| Gpd1 |
G |
A |
15: 99,619,967 (GRCm39) |
S255N |
probably damaging |
Het |
| Grik2 |
A |
C |
10: 49,295,792 (GRCm39) |
I392S |
probably damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,236,606 (GRCm39) |
L228P |
probably damaging |
Het |
| Iws1 |
A |
T |
18: 32,223,568 (GRCm39) |
M659L |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,580,364 (GRCm39) |
C570R |
probably benign |
Het |
| Lamc3 |
T |
A |
2: 31,812,279 (GRCm39) |
|
probably null |
Het |
| Lipf |
G |
A |
19: 33,943,048 (GRCm39) |
G119R |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,719 (GRCm39) |
I1416M |
unknown |
Het |
| Magel2 |
A |
T |
7: 62,028,130 (GRCm39) |
I345L |
probably benign |
Het |
| Mdn1 |
G |
A |
4: 32,722,360 (GRCm39) |
A2381T |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,001,007 (GRCm39) |
V690A |
probably benign |
Het |
| Megf10 |
GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA |
GGCAGCAACAGCACCAGCAGCA |
18: 57,427,071 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 35,083,872 (GRCm39) |
Y106H |
probably damaging |
Het |
| Ndst4 |
A |
T |
3: 125,364,493 (GRCm39) |
H390L |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,425,472 (GRCm39) |
N280K |
probably damaging |
Het |
| Or10aa1 |
G |
A |
1: 173,869,900 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b116 |
A |
T |
19: 13,423,252 (GRCm39) |
N292I |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,597 (GRCm39) |
F1947L |
probably damaging |
Het |
| Pabpc4 |
G |
A |
4: 123,189,102 (GRCm39) |
A481T |
probably benign |
Het |
| Parm1 |
C |
T |
5: 91,741,791 (GRCm39) |
T53I |
possibly damaging |
Het |
| Pilra |
C |
T |
5: 137,833,679 (GRCm39) |
R129Q |
probably benign |
Het |
| Pkd1 |
C |
T |
17: 24,769,250 (GRCm39) |
A5V |
unknown |
Het |
| Pmch |
T |
C |
10: 87,927,242 (GRCm39) |
S82P |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,934 (GRCm39) |
R70H |
possibly damaging |
Het |
| Rad51c |
T |
C |
11: 87,292,276 (GRCm39) |
S180G |
probably benign |
Het |
| Rassf8 |
A |
C |
6: 145,760,973 (GRCm39) |
T100P |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,890 (GRCm39) |
E394G |
probably damaging |
Het |
| Rufy2 |
T |
A |
10: 62,838,772 (GRCm39) |
V418E |
probably benign |
Het |
| Sdad1 |
A |
T |
5: 92,450,538 (GRCm39) |
V199D |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,063,761 (GRCm39) |
S2227T |
probably benign |
Het |
| Tac4 |
A |
G |
11: 95,156,116 (GRCm39) |
M66V |
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,031 (GRCm39) |
V188A |
probably benign |
Het |
| Tcerg1 |
T |
C |
18: 42,694,000 (GRCm39) |
V707A |
possibly damaging |
Het |
| Tmem273 |
A |
G |
14: 32,527,129 (GRCm39) |
E32G |
possibly damaging |
Het |
| Trav13d-4 |
G |
A |
14: 53,995,355 (GRCm39) |
G103D |
probably damaging |
Het |
| Trav8d-1 |
A |
G |
14: 53,016,380 (GRCm39) |
S89G |
probably benign |
Het |
| Ttll4 |
C |
T |
1: 74,718,572 (GRCm39) |
S141L |
probably benign |
Het |
| Vash1 |
T |
C |
12: 86,738,614 (GRCm39) |
S354P |
probably benign |
Het |
| Vmn2r40 |
T |
A |
7: 8,911,116 (GRCm39) |
I726F |
|
Het |
| Vmn2r53 |
A |
C |
7: 12,340,418 (GRCm39) |
N18K |
probably damaging |
Het |
| Wnt6 |
T |
C |
1: 74,823,422 (GRCm39) |
F253S |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,811 (GRCm39) |
I118T |
probably benign |
Het |
|
| Other mutations in Myo1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01346:Myo1c
|
APN |
11 |
75,563,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02054:Myo1c
|
APN |
11 |
75,551,962 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02115:Myo1c
|
APN |
11 |
75,552,417 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02375:Myo1c
|
APN |
11 |
75,552,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02878:Myo1c
|
APN |
11 |
75,559,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03008:Myo1c
|
APN |
11 |
75,549,240 (GRCm39) |
missense |
probably benign |
0.13 |
|
Sweeper
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R0070:Myo1c
|
UTSW |
11 |
75,551,076 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0070:Myo1c
|
UTSW |
11 |
75,551,076 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0138:Myo1c
|
UTSW |
11 |
75,551,827 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0200:Myo1c
|
UTSW |
11 |
75,563,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0227:Myo1c
|
UTSW |
11 |
75,549,520 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0257:Myo1c
|
UTSW |
11 |
75,556,342 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0513:Myo1c
|
UTSW |
11 |
75,556,657 (GRCm39) |
splice site |
probably null |
|
|
R0587:Myo1c
|
UTSW |
11 |
75,548,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Myo1c
|
UTSW |
11 |
75,559,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Myo1c
|
UTSW |
11 |
75,560,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Myo1c
|
UTSW |
11 |
75,560,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Myo1c
|
UTSW |
11 |
75,548,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1922:Myo1c
|
UTSW |
11 |
75,559,055 (GRCm39) |
missense |
probably benign |
|
|
R2000:Myo1c
|
UTSW |
11 |
75,561,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Myo1c
|
UTSW |
11 |
75,552,325 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4583:Myo1c
|
UTSW |
11 |
75,562,688 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4599:Myo1c
|
UTSW |
11 |
75,559,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4671:Myo1c
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R4682:Myo1c
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R4708:Myo1c
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R4709:Myo1c
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R4742:Myo1c
|
UTSW |
11 |
75,560,856 (GRCm39) |
nonsense |
probably null |
|
|
R4770:Myo1c
|
UTSW |
11 |
75,551,139 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Myo1c
|
UTSW |
11 |
75,560,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Myo1c
|
UTSW |
11 |
75,547,135 (GRCm39) |
start codon destroyed |
probably null |
|
|
R4934:Myo1c
|
UTSW |
11 |
75,562,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Myo1c
|
UTSW |
11 |
75,562,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Myo1c
|
UTSW |
11 |
75,552,852 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5589:Myo1c
|
UTSW |
11 |
75,548,414 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5624:Myo1c
|
UTSW |
11 |
75,553,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5756:Myo1c
|
UTSW |
11 |
75,549,240 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5959:Myo1c
|
UTSW |
11 |
75,548,345 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6160:Myo1c
|
UTSW |
11 |
75,541,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6559:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6568:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6569:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6574:Myo1c
|
UTSW |
11 |
75,547,124 (GRCm39) |
start gained |
probably benign |
|
|
R6579:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6580:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6583:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6640:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6642:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6643:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6679:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6680:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6687:Myo1c
|
UTSW |
11 |
75,563,027 (GRCm39) |
missense |
probably benign |
|
|
R6695:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6696:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6700:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6712:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6713:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6715:Myo1c
|
UTSW |
11 |
75,562,461 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7081:Myo1c
|
UTSW |
11 |
75,551,789 (GRCm39) |
missense |
probably benign |
|
|
R7265:Myo1c
|
UTSW |
11 |
75,560,616 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7397:Myo1c
|
UTSW |
11 |
75,562,068 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7586:Myo1c
|
UTSW |
11 |
75,548,345 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8260:Myo1c
|
UTSW |
11 |
75,546,942 (GRCm39) |
unclassified |
probably benign |
|
|
R8341:Myo1c
|
UTSW |
11 |
75,562,253 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8466:Myo1c
|
UTSW |
11 |
75,549,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Myo1c
|
UTSW |
11 |
75,556,709 (GRCm39) |
missense |
probably benign |
|
|
R8829:Myo1c
|
UTSW |
11 |
75,561,072 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8832:Myo1c
|
UTSW |
11 |
75,561,072 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9243:Myo1c
|
UTSW |
11 |
75,541,437 (GRCm39) |
unclassified |
probably benign |
|
|
R9489:Myo1c
|
UTSW |
11 |
75,559,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9605:Myo1c
|
UTSW |
11 |
75,559,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9744:Myo1c
|
UTSW |
11 |
75,562,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9782:Myo1c
|
UTSW |
11 |
75,549,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGTTCTATGCAGAGACCTG -3'
(R):5'- CCTAGTCGCTTCGCAGACAC -3'
Sequencing Primer
(F):5'- CAGAGACCTGCCCAGCC -3'
(R):5'- TCTGGACTGCAAATCGAGACTATC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation