Incidental Mutation 'R7265:Myo1c'
ID |
564885 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
045355-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.684)
|
Stock # |
R7265 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75560616 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 706
(I706T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000070388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
AlphaFold |
Q9WTI7 |
PDB Structure |
Crystal Structure of Myosin-1c tail in complex with Calmodulin [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069057
AA Change: I706T
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774 AA Change: I706T
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 |
possibly damaging
Transcript: ENSMUST00000102504
AA Change: I706T
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774 AA Change: I706T
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 |
possibly damaging
Transcript: ENSMUST00000102505
AA Change: I741T
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: I741T
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 |
possibly damaging
Transcript: ENSMUST00000108431
AA Change: I722T
PolyPhen 2
Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: I722T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asb3 |
A |
G |
11: 30,948,495 (GRCm39) |
E57G |
probably benign |
Het |
B3glct |
A |
G |
5: 149,632,785 (GRCm39) |
D45G |
probably benign |
Het |
BC034090 |
C |
A |
1: 155,101,073 (GRCm39) |
C397F |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,415,374 (GRCm39) |
K696E |
probably damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,868 (GRCm39) |
C15Y |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,557,257 (GRCm39) |
N300S |
|
Het |
Chia1 |
T |
A |
3: 106,036,239 (GRCm39) |
L273Q |
probably damaging |
Het |
Coq2 |
A |
G |
5: 100,808,136 (GRCm39) |
S222P |
possibly damaging |
Het |
Dgkb |
T |
C |
12: 38,234,931 (GRCm39) |
V432A |
possibly damaging |
Het |
Dpp3 |
A |
G |
19: 4,973,797 (GRCm39) |
F92S |
probably damaging |
Het |
Elapor2 |
T |
C |
5: 9,496,975 (GRCm39) |
V813A |
possibly damaging |
Het |
Emcn |
T |
C |
3: 137,122,839 (GRCm39) |
S183P |
probably damaging |
Het |
Emcn |
T |
A |
3: 137,124,837 (GRCm39) |
W217R |
probably damaging |
Het |
Enpp2 |
A |
C |
15: 54,773,429 (GRCm39) |
|
probably null |
Het |
Epb41 |
T |
C |
4: 131,695,145 (GRCm39) |
E14G |
unknown |
Het |
Fhip1b |
G |
T |
7: 105,033,432 (GRCm39) |
R609S |
probably benign |
Het |
Grk4 |
A |
G |
5: 34,873,608 (GRCm39) |
R225G |
probably damaging |
Het |
Insl6 |
A |
T |
19: 29,298,945 (GRCm39) |
W156R |
possibly damaging |
Het |
Ints3 |
A |
T |
3: 90,311,290 (GRCm39) |
|
probably null |
Het |
Jarid2 |
G |
A |
13: 45,055,748 (GRCm39) |
G318D |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,556,650 (GRCm39) |
L596H |
probably damaging |
Het |
Lctl |
T |
A |
9: 64,034,203 (GRCm39) |
Y281N |
probably damaging |
Het |
Letm1 |
A |
T |
5: 33,935,992 (GRCm39) |
C34S |
possibly damaging |
Het |
Lrrc32 |
T |
C |
7: 98,148,644 (GRCm39) |
S475P |
probably damaging |
Het |
Lrrc37a |
T |
A |
11: 103,389,767 (GRCm39) |
D1886V |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,301,670 (GRCm39) |
I944K |
probably benign |
Het |
Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
Mecom |
C |
A |
3: 30,034,282 (GRCm39) |
A465S |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,567,768 (GRCm39) |
S1584P |
unknown |
Het |
Mycbp2 |
A |
G |
14: 103,434,679 (GRCm39) |
|
probably null |
Het |
Myo18b |
G |
A |
5: 112,959,938 (GRCm39) |
R1372W |
probably damaging |
Het |
Myo1g |
T |
C |
11: 6,460,933 (GRCm39) |
T704A |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,419,556 (GRCm39) |
K914E |
probably benign |
Het |
Or5ac20 |
T |
A |
16: 59,104,287 (GRCm39) |
D191V |
probably damaging |
Het |
Or8b101 |
A |
T |
9: 38,020,227 (GRCm39) |
I77L |
possibly damaging |
Het |
Or8k23 |
C |
T |
2: 86,186,088 (GRCm39) |
V213I |
probably benign |
Het |
Otub2 |
C |
T |
12: 103,366,480 (GRCm39) |
S99L |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,943,105 (GRCm39) |
S345L |
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,638,616 (GRCm39) |
I381F |
possibly damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,969 (GRCm39) |
T659A |
probably damaging |
Het |
Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
Pik3c2a |
T |
A |
7: 115,987,321 (GRCm39) |
K533N |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,879,402 (GRCm39) |
Q933L |
|
Het |
Ppp4r3a |
A |
T |
12: 101,019,770 (GRCm39) |
M395K |
possibly damaging |
Het |
Pramel11 |
C |
A |
4: 143,621,991 (GRCm39) |
V455L |
probably benign |
Het |
Ptpn20 |
A |
G |
14: 33,336,481 (GRCm39) |
T107A |
probably benign |
Het |
Scaf8 |
T |
A |
17: 3,227,900 (GRCm39) |
D376E |
unknown |
Het |
Scn11a |
C |
A |
9: 119,644,331 (GRCm39) |
C143F |
probably damaging |
Het |
Sctr |
G |
A |
1: 119,949,955 (GRCm39) |
R48Q |
probably benign |
Het |
Sec13 |
A |
T |
6: 113,712,097 (GRCm39) |
Y79* |
probably null |
Het |
Sez6 |
T |
A |
11: 77,853,691 (GRCm39) |
I287N |
probably damaging |
Het |
Slc52a3 |
T |
A |
2: 151,846,336 (GRCm39) |
I99K |
possibly damaging |
Het |
Slco4c1 |
T |
G |
1: 96,799,518 (GRCm39) |
H106P |
probably damaging |
Het |
Tada2b |
A |
G |
5: 36,633,952 (GRCm39) |
Y209H |
probably damaging |
Het |
Tas1r2 |
T |
A |
4: 139,396,963 (GRCm39) |
D796E |
probably benign |
Het |
Tdrd12 |
A |
T |
7: 35,187,147 (GRCm39) |
M581K |
|
Het |
Thnsl1 |
A |
G |
2: 21,217,269 (GRCm39) |
E341G |
probably damaging |
Het |
Tlk2 |
C |
T |
11: 105,075,070 (GRCm39) |
R11* |
probably null |
Het |
Tmco6 |
T |
C |
18: 36,872,396 (GRCm39) |
|
probably null |
Het |
Trmt44 |
A |
T |
5: 35,721,647 (GRCm39) |
H505Q |
probably benign |
Het |
Trpc1 |
T |
C |
9: 95,590,328 (GRCm39) |
M710V |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,040,517 (GRCm39) |
E858G |
possibly damaging |
Het |
Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
Umod |
G |
T |
7: 119,065,296 (GRCm39) |
Q578K |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,464,195 (GRCm39) |
N213S |
probably benign |
Het |
Vmn2r88 |
G |
A |
14: 51,655,776 (GRCm39) |
V662I |
|
Het |
Zfp414 |
C |
A |
17: 33,850,253 (GRCm39) |
D217E |
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 |
|
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 |
R7714:Myo1c
|
UTSW |
11 |
75,549,519 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AACAGTCATCCCAGTTGCC -3'
(R):5'- CTGTAGTTCCCACACACTGG -3'
Sequencing Primer
(F):5'- CAGTTGCCTCTGGACACAG -3'
(R):5'- ACTCACCGACGGATGGTCTG -3'
|
Posted On |
2019-06-26 |