Incidental Mutation 'R1922:Myo1c'
ID |
213165 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
039940-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.684)
|
Stock # |
R1922 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75559055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 597
(R597G)
|
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: R581G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774 AA Change: R581G
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: R581G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774 AA Change: R581G
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: R616G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: R616G
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: R597G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: R597G
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: ENSMUST00000148659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151174
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155027
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 93.7%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
T |
1: 71,359,083 (GRCm39) |
N574K |
probably benign |
Het |
Adcy9 |
A |
T |
16: 4,129,521 (GRCm39) |
L455H |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Amy1 |
T |
A |
3: 113,358,544 (GRCm39) |
I163F |
probably damaging |
Het |
Aoc1l2 |
A |
C |
6: 48,908,220 (GRCm39) |
I407L |
probably benign |
Het |
Armc5 |
A |
G |
7: 127,839,677 (GRCm39) |
S332G |
probably benign |
Het |
Brd4 |
T |
C |
17: 32,417,060 (GRCm39) |
|
probably benign |
Het |
Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
Chrna1 |
A |
G |
2: 73,398,576 (GRCm39) |
S288P |
probably damaging |
Het |
Cpe |
T |
A |
8: 65,070,723 (GRCm39) |
D174V |
probably benign |
Het |
Dclre1c |
T |
C |
2: 3,441,819 (GRCm39) |
F235L |
possibly damaging |
Het |
Ddx20 |
A |
T |
3: 105,585,900 (GRCm39) |
V815D |
probably damaging |
Het |
Dhx9 |
T |
C |
1: 153,336,020 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
A |
C |
9: 54,308,807 (GRCm39) |
H1981Q |
probably benign |
Het |
Doc2a |
A |
C |
7: 126,450,603 (GRCm39) |
D293A |
probably damaging |
Het |
Eif2a |
C |
T |
3: 58,455,951 (GRCm39) |
R317C |
probably damaging |
Het |
Fancc |
A |
G |
13: 63,478,381 (GRCm39) |
V318A |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,033,734 (GRCm39) |
Y172* |
probably null |
Het |
Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
Glul |
G |
A |
1: 153,783,070 (GRCm39) |
M214I |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,642,797 (GRCm39) |
I823V |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,318 (GRCm39) |
N50S |
probably benign |
Het |
Gm6729 |
T |
C |
10: 86,376,782 (GRCm39) |
|
noncoding transcript |
Het |
Gpr21 |
T |
A |
2: 37,408,350 (GRCm39) |
C299S |
probably damaging |
Het |
Hapln2 |
T |
A |
3: 87,930,684 (GRCm39) |
N196Y |
probably benign |
Het |
Hsd17b12 |
A |
G |
2: 93,875,737 (GRCm39) |
V196A |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,234,466 (GRCm39) |
L680Q |
probably damaging |
Het |
Kcna3 |
T |
C |
3: 106,945,251 (GRCm39) |
S505P |
possibly damaging |
Het |
Klra1 |
A |
C |
6: 130,349,828 (GRCm39) |
N203K |
probably benign |
Het |
L3mbtl2 |
T |
A |
15: 81,559,822 (GRCm39) |
I236N |
probably damaging |
Het |
Mcm3ap |
C |
A |
10: 76,343,195 (GRCm39) |
P1696T |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,011,591 (GRCm39) |
D647G |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,566,612 (GRCm39) |
D194G |
probably damaging |
Het |
Muc5ac |
A |
G |
7: 141,347,426 (GRCm39) |
N407S |
probably benign |
Het |
Mx2 |
C |
T |
16: 97,361,551 (GRCm39) |
R584C |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,541,467 (GRCm39) |
D1932G |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,951,585 (GRCm39) |
D205E |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,716,622 (GRCm39) |
K584E |
probably benign |
Het |
Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
Osmr |
T |
C |
15: 6,873,848 (GRCm39) |
E183G |
possibly damaging |
Het |
Peak1 |
A |
T |
9: 56,113,971 (GRCm39) |
W627R |
probably damaging |
Het |
Pkd1 |
C |
A |
17: 24,814,131 (GRCm39) |
P4167Q |
probably damaging |
Het |
Plekhg4 |
T |
A |
8: 106,105,017 (GRCm39) |
L560Q |
probably damaging |
Het |
Prg4 |
C |
T |
1: 150,325,750 (GRCm39) |
W1217* |
probably null |
Het |
Prkdc |
A |
G |
16: 15,532,130 (GRCm39) |
I1465V |
probably benign |
Het |
Pus1 |
A |
G |
5: 110,925,505 (GRCm39) |
F105S |
probably damaging |
Het |
Ranbp3l |
T |
C |
15: 9,057,206 (GRCm39) |
S154P |
probably damaging |
Het |
Rhbdl1 |
C |
T |
17: 26,054,513 (GRCm39) |
G211S |
probably damaging |
Het |
Rrp36 |
C |
T |
17: 46,983,671 (GRCm39) |
R47Q |
possibly damaging |
Het |
Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
Sash1 |
T |
A |
10: 8,603,672 (GRCm39) |
N1127Y |
possibly damaging |
Het |
Setbp1 |
C |
T |
18: 78,901,577 (GRCm39) |
E697K |
possibly damaging |
Het |
Slc27a3 |
A |
T |
3: 90,293,624 (GRCm39) |
V587E |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,589,043 (GRCm39) |
F454L |
possibly damaging |
Het |
Sprn |
A |
T |
7: 139,733,458 (GRCm39) |
|
probably benign |
Het |
St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,468,564 (GRCm39) |
E732G |
probably damaging |
Het |
Tnfaip3 |
A |
G |
10: 18,879,355 (GRCm39) |
F671S |
possibly damaging |
Het |
Tor1aip2 |
C |
A |
1: 155,940,540 (GRCm39) |
P282Q |
probably damaging |
Het |
Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,789 (GRCm39) |
F46Y |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,564,494 (GRCm39) |
S28548P |
probably damaging |
Het |
Tubb5 |
T |
C |
17: 36,146,190 (GRCm39) |
Y340C |
probably benign |
Het |
Usp32 |
A |
T |
11: 84,897,830 (GRCm39) |
C1170* |
probably null |
Het |
Usp54 |
G |
T |
14: 20,610,972 (GRCm39) |
H1281Q |
probably benign |
Het |
Vgll4 |
C |
T |
6: 114,898,296 (GRCm39) |
G22S |
probably benign |
Het |
Vmn2r120 |
T |
A |
17: 57,831,839 (GRCm39) |
I317F |
probably benign |
Het |
Zdhhc5 |
A |
T |
2: 84,523,771 (GRCm39) |
F225Y |
probably damaging |
Het |
Zfp652 |
A |
G |
11: 95,654,851 (GRCm39) |
E418G |
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 |
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 |
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'- GAAGTAGGGTGAACTCCAGTC -3'
(R):5'- TCACCTGATGTCGGATGAGC -3'
Sequencing Primer
(F):5'- GTAGGGTGAACTCCAGTCCCTTC -3'
(R):5'- TGATGTCGGATGAGCACCTC -3'
|
Posted On |
2014-07-14 |