Incidental Mutation 'R7081:Myo1c'
ID |
549549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
045175-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.684)
|
Stock # |
R7081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75551789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 289
(D289G)
|
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 benign
Transcript: ENSMUST00000069057
AA Change: D289G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774 AA Change: D289G
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: D289G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774 AA Change: D289G
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: D324G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: D324G
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: D305G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: D305G
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,361,951 (GRCm39) |
H337L |
possibly damaging |
Het |
Abcb4 |
T |
A |
5: 8,984,263 (GRCm39) |
N664K |
probably benign |
Het |
Adh7 |
A |
G |
3: 137,934,606 (GRCm39) |
D343G |
probably benign |
Het |
Als2cl |
G |
A |
9: 110,723,650 (GRCm39) |
R682Q |
possibly damaging |
Het |
Angptl6 |
A |
C |
9: 20,786,644 (GRCm39) |
I334R |
probably damaging |
Het |
Ankrd45 |
A |
G |
1: 160,978,863 (GRCm39) |
N101D |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 15,047,547 (GRCm39) |
Q1137* |
probably null |
Het |
Asap3 |
T |
A |
4: 135,968,881 (GRCm39) |
|
probably null |
Het |
Bmp2k |
T |
C |
5: 97,212,820 (GRCm39) |
S568P |
unknown |
Het |
C4b |
A |
C |
17: 34,954,417 (GRCm39) |
F917L |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,576,129 (GRCm39) |
V168E |
possibly damaging |
Het |
Ccdc60 |
T |
A |
5: 116,264,146 (GRCm39) |
I543F |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,702 (GRCm39) |
D133G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,106,948 (GRCm39) |
V1911A |
unknown |
Het |
Cplx4 |
A |
T |
18: 66,100,538 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,272 (GRCm39) |
D415E |
possibly damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,318,183 (GRCm39) |
I388T |
probably damaging |
Het |
Dnajc5b |
T |
C |
3: 19,601,025 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
T |
12: 40,671,285 (GRCm39) |
I35F |
probably damaging |
Het |
Efna4 |
A |
T |
3: 89,241,601 (GRCm39) |
L206Q |
unknown |
Het |
Eif2a |
T |
C |
3: 58,449,139 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
G |
13: 49,063,801 (GRCm39) |
F612L |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,990,990 (GRCm39) |
L23P |
probably damaging |
Het |
Fcamr |
A |
T |
1: 130,740,949 (GRCm39) |
E456V |
probably damaging |
Het |
Fkbp8 |
G |
A |
8: 70,983,644 (GRCm39) |
R106H |
probably benign |
Het |
Galr2 |
T |
A |
11: 116,173,874 (GRCm39) |
L168Q |
probably damaging |
Het |
Gm11111 |
C |
T |
5: 98,701,399 (GRCm39) |
S22L |
unknown |
Het |
Gnpat |
T |
C |
8: 125,590,008 (GRCm39) |
F11S |
possibly damaging |
Het |
H2-T24 |
A |
T |
17: 36,328,344 (GRCm39) |
D46E |
probably damaging |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Ifna12 |
T |
C |
4: 88,521,440 (GRCm39) |
R36G |
probably damaging |
Het |
Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,631,373 (GRCm39) |
D683E |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,873,651 (GRCm39) |
Y477H |
possibly damaging |
Het |
Lipm |
T |
A |
19: 34,098,723 (GRCm39) |
V399D |
possibly damaging |
Het |
Lrguk |
A |
T |
6: 34,079,074 (GRCm39) |
T770S |
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,348,781 (GRCm39) |
N2638S |
unknown |
Het |
Lrrc40 |
T |
C |
3: 157,742,442 (GRCm39) |
V27A |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,690,574 (GRCm39) |
V355A |
probably benign |
Het |
Mylk3 |
T |
C |
8: 86,091,422 (GRCm39) |
I128V |
probably benign |
Het |
Mypn |
A |
G |
10: 62,970,737 (GRCm39) |
F889S |
probably damaging |
Het |
Ndufv3 |
C |
T |
17: 31,746,407 (GRCm39) |
P99L |
possibly damaging |
Het |
Nlrp10 |
A |
C |
7: 108,523,855 (GRCm39) |
S542A |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,331,477 (GRCm39) |
D718E |
possibly damaging |
Het |
Ntng1 |
T |
A |
3: 109,759,105 (GRCm39) |
I355F |
probably benign |
Het |
Nup210 |
A |
G |
6: 91,037,647 (GRCm39) |
V742A |
possibly damaging |
Het |
Nup50l |
A |
G |
6: 96,142,798 (GRCm39) |
V82A |
possibly damaging |
Het |
Olig2 |
T |
A |
16: 91,023,307 (GRCm39) |
L7Q |
probably damaging |
Het |
Or51f23b |
A |
T |
7: 102,402,395 (GRCm39) |
I247N |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,939 (GRCm39) |
F61I |
probably damaging |
Het |
Parpbp |
A |
T |
10: 87,929,517 (GRCm39) |
W444R |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
Pramel16 |
T |
C |
4: 143,675,848 (GRCm39) |
D326G |
probably damaging |
Het |
Pramel56 |
T |
A |
5: 95,022,641 (GRCm39) |
N107K |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,103,075 (GRCm39) |
Q851L |
probably benign |
Het |
Psg21 |
C |
T |
7: 18,388,774 (GRCm39) |
W106* |
probably null |
Het |
Rab18 |
T |
G |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rbm19 |
T |
A |
5: 120,261,216 (GRCm39) |
|
probably null |
Het |
Rhobtb1 |
T |
C |
10: 69,102,127 (GRCm39) |
V136A |
probably benign |
Het |
Rsph4a |
G |
A |
10: 33,785,189 (GRCm39) |
V367I |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,781,391 (GRCm39) |
N1161S |
probably benign |
Het |
Sgcd |
C |
A |
11: 47,016,428 (GRCm39) |
G145* |
probably null |
Het |
Sin3a |
A |
G |
9: 57,001,755 (GRCm39) |
K134R |
probably null |
Het |
Slc9b2 |
A |
G |
3: 135,027,698 (GRCm39) |
E108G |
probably benign |
Het |
Stk24 |
A |
T |
14: 121,531,706 (GRCm39) |
S317T |
probably benign |
Het |
Stra8 |
T |
A |
6: 34,911,302 (GRCm39) |
|
probably null |
Het |
Tmem131 |
A |
G |
1: 36,928,376 (GRCm39) |
V71A |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,264 (GRCm39) |
D227G |
possibly damaging |
Het |
Vnn1 |
T |
A |
10: 23,770,903 (GRCm39) |
L44M |
possibly damaging |
Het |
Wdr20 |
G |
A |
12: 110,769,884 (GRCm39) |
V160I |
possibly damaging |
Het |
Zfand4 |
T |
A |
6: 116,292,581 (GRCm39) |
N667K |
possibly damaging |
Het |
Zfp1005 |
A |
G |
2: 150,110,189 (GRCm39) |
H293R |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,609,723 (GRCm39) |
V1080A |
possibly damaging |
Het |
Zhx1 |
C |
T |
15: 57,917,734 (GRCm39) |
V171I |
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 |
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'- GCTCCTGAAGGCCTTACTAAC -3'
(R):5'- ACTGTACCCCTCTGAGCCTTAG -3'
Sequencing Primer
(F):5'- TGAAGGCCTTACTAACCATCCCTG -3'
(R):5'- TAGGCCCCTCTAGGACTACTGAAG -3'
|
Posted On |
2019-05-15 |