Incidental Mutation 'R5589:Myo1c'
ID |
437365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Myo1c
|
Ensembl Gene |
ENSMUSG00000017774 |
Gene Name |
myosin IC |
Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
MMRRC Submission |
043142-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.684)
|
Stock # |
R5589 (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 75548414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 58
(T58A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099563
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
[ENSMUST00000136935]
|
AlphaFold |
Q9WTI7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069057
AA Change: T23A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000070388 Gene: ENSMUSG00000017774 AA Change: T23A
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: T23A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099562 Gene: ENSMUSG00000017774 AA Change: T23A
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: T58A
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000099563 Gene: ENSMUSG00000017774 AA Change: T58A
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: T39A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000104069 Gene: ENSMUSG00000017774 AA Change: T39A
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
AA Change: T61A
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000121267 Gene: ENSMUSG00000017774 AA Change: T61A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148659
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151174
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,468,066 (GRCm39) |
M76L |
probably benign |
Het |
Adrm1b |
T |
A |
3: 92,336,112 (GRCm39) |
|
probably benign |
Het |
Alg1 |
T |
A |
16: 5,053,086 (GRCm39) |
W116R |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,715,340 (GRCm39) |
S33T |
probably damaging |
Het |
Atp2b2 |
T |
C |
6: 113,751,400 (GRCm39) |
E556G |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,480,597 (GRCm39) |
I2761K |
possibly damaging |
Het |
Ccdc68 |
G |
A |
18: 70,079,577 (GRCm39) |
G141E |
probably benign |
Het |
Cckbr |
T |
C |
7: 105,083,732 (GRCm39) |
V220A |
probably damaging |
Het |
Ccnd3 |
G |
A |
17: 47,909,544 (GRCm39) |
R45Q |
probably damaging |
Het |
Cdh24 |
G |
T |
14: 54,874,832 (GRCm39) |
T391N |
probably damaging |
Het |
Cldn11 |
A |
G |
3: 31,204,395 (GRCm39) |
T33A |
probably damaging |
Het |
Clec2e |
T |
A |
6: 129,075,391 (GRCm39) |
Y50F |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,075,944 (GRCm39) |
N943D |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,454,484 (GRCm39) |
R177G |
possibly damaging |
Het |
Dmgdh |
T |
C |
13: 93,813,665 (GRCm39) |
V70A |
probably damaging |
Het |
Gm14496 |
C |
A |
2: 181,637,674 (GRCm39) |
Y249* |
probably null |
Het |
Gmnc |
T |
A |
16: 26,781,714 (GRCm39) |
H105L |
probably damaging |
Het |
Gpt2 |
A |
G |
8: 86,219,740 (GRCm39) |
Y62C |
probably damaging |
Het |
Ift80 |
T |
C |
3: 68,838,233 (GRCm39) |
R413G |
probably damaging |
Het |
Kctd16 |
C |
A |
18: 40,392,061 (GRCm39) |
D216E |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,743,864 (GRCm39) |
V873A |
probably benign |
Het |
Klra4 |
G |
T |
6: 130,039,117 (GRCm39) |
Q92K |
probably benign |
Het |
L1td1 |
C |
A |
4: 98,626,341 (GRCm39) |
N845K |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,605,277 (GRCm39) |
T1077I |
possibly damaging |
Het |
Loxhd1 |
T |
C |
18: 77,429,751 (GRCm39) |
I230T |
possibly damaging |
Het |
Lsg1 |
T |
C |
16: 30,399,819 (GRCm39) |
N160S |
probably damaging |
Het |
Lyzl4 |
G |
A |
9: 121,413,469 (GRCm39) |
R24C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,794,488 (GRCm39) |
N658S |
probably benign |
Het |
Mmp8 |
T |
C |
9: 7,566,275 (GRCm39) |
I377T |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,238,243 (GRCm39) |
|
probably null |
Het |
Myo9a |
C |
T |
9: 59,802,527 (GRCm39) |
Q2005* |
probably null |
Het |
Neu3 |
G |
T |
7: 99,472,636 (GRCm39) |
P34T |
probably benign |
Het |
Nlrp4b |
G |
A |
7: 10,449,512 (GRCm39) |
V205I |
probably benign |
Het |
Or4b1b |
C |
T |
2: 90,112,313 (GRCm39) |
G202D |
probably damaging |
Het |
Or4k38 |
T |
C |
2: 111,165,850 (GRCm39) |
N191S |
possibly damaging |
Het |
Or5h23 |
A |
T |
16: 58,906,334 (GRCm39) |
S171T |
probably benign |
Het |
Or5t15 |
A |
G |
2: 86,681,118 (GRCm39) |
I308T |
unknown |
Het |
Or6c66 |
T |
G |
10: 129,461,319 (GRCm39) |
T204P |
probably damaging |
Het |
Or9m1 |
T |
C |
2: 87,733,691 (GRCm39) |
T110A |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,578,933 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,893 (GRCm39) |
V288A |
probably benign |
Het |
Plcd3 |
T |
C |
11: 102,968,629 (GRCm39) |
D354G |
probably benign |
Het |
Prkdc |
C |
A |
16: 15,524,655 (GRCm39) |
N1219K |
probably benign |
Het |
Prl3d1 |
T |
A |
13: 27,278,927 (GRCm39) |
Y41N |
probably damaging |
Het |
Qrich2 |
C |
T |
11: 116,332,234 (GRCm39) |
G2321R |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,886 (GRCm39) |
I94V |
probably benign |
Het |
Serinc1 |
C |
A |
10: 57,399,262 (GRCm39) |
V214L |
probably benign |
Het |
Serpina9 |
G |
T |
12: 103,967,728 (GRCm39) |
N222K |
probably benign |
Het |
Smchd1 |
A |
G |
17: 71,747,956 (GRCm39) |
Y429H |
probably damaging |
Het |
Smyd1 |
C |
T |
6: 71,239,164 (GRCm39) |
V9M |
probably damaging |
Het |
Sostdc1 |
C |
T |
12: 36,367,246 (GRCm39) |
Q141* |
probably null |
Het |
Spam1 |
C |
T |
6: 24,796,109 (GRCm39) |
T20I |
probably benign |
Het |
Tex47 |
T |
C |
5: 7,354,834 (GRCm39) |
V5A |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,912,582 (GRCm39) |
|
probably null |
Het |
Trim45 |
C |
T |
3: 100,837,257 (GRCm39) |
P531L |
probably damaging |
Het |
Tshb |
A |
T |
3: 102,685,478 (GRCm39) |
Y50* |
probably null |
Het |
Ttn |
T |
C |
2: 76,599,320 (GRCm39) |
I19230V |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Uba6 |
G |
A |
5: 86,270,288 (GRCm39) |
T832I |
probably damaging |
Het |
Unc13d |
A |
T |
11: 115,960,579 (GRCm39) |
V497D |
probably damaging |
Het |
Usp13 |
T |
C |
3: 32,892,007 (GRCm39) |
V62A |
probably damaging |
Het |
Vmn1r215 |
A |
C |
13: 23,260,189 (GRCm39) |
L76F |
probably damaging |
Het |
Vmn1r215 |
G |
T |
13: 23,260,190 (GRCm39) |
G77C |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Zbtb40 |
T |
C |
4: 136,722,594 (GRCm39) |
D828G |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,633,990 (GRCm39) |
C573S |
probably 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 |
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'- TGTGTCCAAAGTGTCCCTGC -3'
(R):5'- TCTCGGTAGGGATTGACAGAG -3'
Sequencing Primer
(F):5'- CCTTCTACATCCTGCAGGCAG -3'
(R):5'- TCTCGGTAGGGATTGACAGAGACTAG -3'
|
Posted On |
2016-10-26 |