Incidental Mutation 'R6700:Myo1c'
ID |
528228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
044818-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.684)
|
Stock # |
R6700 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 75562461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 918
(P918S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
AlphaFold |
Q9WTI7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069057
AA Change: P902S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774 AA Change: P902S
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
AA Change: P902S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774 AA Change: P902S
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: ENSMUST00000102505
AA Change: P937S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: P937S
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 benign
Transcript: ENSMUST00000108431
AA Change: P918S
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: P918S
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 |
noncoding transcript
Transcript: ENSMUST00000123064
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146419
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155027
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (62/62) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,881,140 (GRCm39) |
E504G |
unknown |
Het |
Aak1 |
G |
A |
6: 86,941,185 (GRCm39) |
E660K |
unknown |
Het |
Abcc9 |
A |
G |
6: 142,633,013 (GRCm39) |
I243T |
possibly damaging |
Het |
Baiap3 |
A |
G |
17: 25,463,000 (GRCm39) |
S1013P |
probably damaging |
Het |
Bdp1 |
A |
T |
13: 100,162,036 (GRCm39) |
D2295E |
probably benign |
Het |
Blm |
A |
G |
7: 80,113,598 (GRCm39) |
V1233A |
possibly damaging |
Het |
Brsk1 |
G |
T |
7: 4,695,700 (GRCm39) |
V62F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,458 (GRCm39) |
E1011G |
probably damaging |
Het |
Cdh18 |
A |
G |
15: 23,474,191 (GRCm39) |
Y687C |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,883,421 (GRCm39) |
E250G |
possibly damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Cps1 |
G |
T |
1: 67,268,682 (GRCm39) |
|
probably null |
Het |
Cyp4v3 |
A |
G |
8: 45,760,130 (GRCm39) |
V34A |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,846,192 (GRCm39) |
V2949M |
probably damaging |
Het |
Dst |
A |
C |
1: 34,295,404 (GRCm39) |
Q3454P |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,391,611 (GRCm39) |
L495P |
possibly damaging |
Het |
Flnb |
C |
A |
14: 7,892,189 (GRCm38) |
H619Q |
probably damaging |
Het |
Fst |
G |
C |
13: 114,595,043 (GRCm39) |
A27G |
probably benign |
Het |
Ggnbp2 |
C |
A |
11: 84,730,931 (GRCm39) |
R364L |
probably damaging |
Het |
Gins1 |
C |
T |
2: 150,758,148 (GRCm39) |
A78V |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,274,664 (GRCm39) |
L1495H |
possibly damaging |
Het |
Golgb1 |
C |
T |
16: 36,695,946 (GRCm39) |
|
probably benign |
Het |
Lin7a |
A |
G |
10: 107,216,167 (GRCm39) |
|
probably null |
Het |
Lrp6 |
A |
T |
6: 134,456,523 (GRCm39) |
C914S |
probably damaging |
Het |
Lrrc8e |
G |
A |
8: 4,286,034 (GRCm39) |
G753D |
probably damaging |
Het |
Mapk4 |
A |
G |
18: 74,063,882 (GRCm39) |
Y447H |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,511 (GRCm39) |
N133S |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,989,869 (GRCm39) |
N329S |
possibly damaging |
Het |
Or13p10 |
A |
T |
4: 118,523,609 (GRCm39) |
K298N |
probably benign |
Het |
Or51k2 |
G |
A |
7: 103,596,531 (GRCm39) |
V253M |
probably damaging |
Het |
Or5b120 |
A |
T |
19: 13,480,177 (GRCm39) |
I157F |
probably damaging |
Het |
Or6k14 |
G |
A |
1: 173,927,405 (GRCm39) |
C127Y |
probably damaging |
Het |
Pik3c3 |
A |
G |
18: 30,449,954 (GRCm39) |
E589G |
probably benign |
Het |
Plb1 |
A |
T |
5: 32,490,808 (GRCm39) |
D1035V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,907,373 (GRCm39) |
M763I |
probably benign |
Het |
Poc5 |
A |
G |
13: 96,531,003 (GRCm39) |
N67S |
probably benign |
Het |
Psmd13 |
T |
A |
7: 140,470,522 (GRCm39) |
W255R |
probably damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,004 (GRCm39) |
Y735C |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,075,594 (GRCm39) |
N257I |
possibly damaging |
Het |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,420,119 (GRCm39) |
T331M |
probably damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,353,146 (GRCm39) |
V105A |
possibly damaging |
Het |
Slc9a9 |
T |
C |
9: 94,818,364 (GRCm39) |
S253P |
possibly damaging |
Het |
St8sia3 |
C |
T |
18: 64,398,452 (GRCm39) |
|
probably benign |
Het |
Strbp |
T |
C |
2: 37,493,975 (GRCm39) |
D366G |
probably null |
Het |
Tbx5 |
A |
G |
5: 120,009,462 (GRCm39) |
T324A |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,064,917 (GRCm39) |
I1449N |
possibly damaging |
Het |
Tmtc3 |
C |
T |
10: 100,307,339 (GRCm39) |
V222I |
probably benign |
Het |
Top3b |
T |
C |
16: 16,710,533 (GRCm39) |
S788P |
possibly damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,756,785 (GRCm39) |
D71G |
probably benign |
Het |
Tubgcp4 |
T |
A |
2: 121,020,329 (GRCm39) |
V434E |
probably benign |
Het |
Ufsp1 |
A |
G |
5: 137,293,158 (GRCm39) |
Y36C |
possibly damaging |
Het |
Unc79 |
T |
A |
12: 103,091,962 (GRCm39) |
H1956Q |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,389,011 (GRCm39) |
N2217I |
probably damaging |
Het |
Vmn2r112 |
A |
T |
17: 22,822,462 (GRCm39) |
D380V |
possibly damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,322,938 (GRCm39) |
I117T |
probably benign |
Het |
Vmn2r53 |
A |
G |
7: 12,315,633 (GRCm39) |
Y729H |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,587 (GRCm39) |
L310M |
probably damaging |
Het |
Zc3h7a |
T |
C |
16: 10,976,831 (GRCm39) |
Q155R |
possibly damaging |
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 |
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 |
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'- GGTAAGAACCTGCTGTGACTC -3'
(R):5'- AGGCTATCACTCAGGCTACTG -3'
Sequencing Primer
(F):5'- TGTGACTCTCGCTGGCAC -3'
(R):5'- GGCTACTGACAGAGATTCCTG -3'
|
Posted On |
2018-07-24 |