Incidental Mutation 'R7586:Myo1c'
ID |
587155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
045668-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.697)
|
Stock # |
R7586 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 75548345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 16
(T16S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
[ENSMUST00000136935]
|
AlphaFold |
Q9WTI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069057
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774
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 benign
Transcript: ENSMUST00000102504
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774
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: T35S
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: T35S
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: T16S
PolyPhen 2
Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: T16S
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 |
possibly damaging
Transcript: ENSMUST00000136935
AA Change: T38S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000121267 Gene: ENSMUSG00000017774 AA Change: T38S
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: 98.9%
|
Validation Efficiency |
100% (67/67) |
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: 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 |
Myo1b |
A |
C |
1: 51,817,483 (GRCm39) |
I593S |
probably 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 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 |
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'- AGGGTCTCTTATCTGCATTCCAG -3'
(R):5'- AGAAGGGTCAGAGGCTTTTCC -3'
Sequencing Primer
(F):5'- ATCTGCATTCCAGCATCCTG -3'
(R):5'- TGAAGGTTCCTGCTGCCAC -3'
|
Posted On |
2019-10-24 |