Incidental Mutation 'R4971:Myo1c'
| ID |
482188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
042566-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R4971 (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 75562414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 902
(Y902C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
| AlphaFold |
Q9WTI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069057
AA Change: Y886C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: Y886C
| 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 damaging
Transcript: ENSMUST00000102504
AA Change: Y886C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: Y886C
| 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 damaging
Transcript: ENSMUST00000102505
AA Change: Y921C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: Y921C
| 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 damaging
Transcript: ENSMUST00000108431
AA Change: Y902C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: Y902C
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,524,190 (GRCm39) |
F1147L |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,332,006 (GRCm39) |
S1373P |
probably damaging |
Het |
| Abca9 |
A |
T |
11: 110,042,874 (GRCm39) |
S392T |
probably benign |
Het |
| Abcd2 |
T |
C |
15: 91,047,313 (GRCm39) |
D580G |
probably benign |
Het |
| Actl9 |
T |
A |
17: 33,652,882 (GRCm39) |
L314H |
probably damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,255,168 (GRCm39) |
F746L |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,901,995 (GRCm39) |
V68A |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,448,254 (GRCm39) |
F2266S |
probably damaging |
Het |
| Colq |
T |
C |
14: 31,267,034 (GRCm39) |
R159G |
probably damaging |
Het |
| Ctse |
A |
T |
1: 131,592,130 (GRCm39) |
D152V |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,970,045 (GRCm39) |
M1011I |
probably benign |
Het |
| Cyb5r4 |
G |
T |
9: 86,939,224 (GRCm39) |
V336L |
possibly damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,131,949 (GRCm39) |
H1619Q |
probably benign |
Het |
| Eif2ak1 |
A |
G |
5: 143,818,986 (GRCm39) |
K216E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,755 (GRCm39) |
H1410L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,446,604 (GRCm39) |
Y2388C |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,816,222 (GRCm39) |
T3985M |
probably benign |
Het |
| Gak |
T |
C |
5: 108,744,672 (GRCm39) |
Y535C |
probably damaging |
Het |
| Gzmc |
G |
T |
14: 56,469,826 (GRCm39) |
P158Q |
probably damaging |
Het |
| Hook3 |
A |
G |
8: 26,572,607 (GRCm39) |
Y135H |
probably benign |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Ing4 |
A |
T |
6: 125,020,961 (GRCm39) |
M28L |
probably benign |
Het |
| Irs3 |
T |
A |
5: 137,642,754 (GRCm39) |
D228V |
probably damaging |
Het |
| Jade1 |
T |
A |
3: 41,555,836 (GRCm39) |
I301N |
probably damaging |
Het |
| Kif13b |
T |
A |
14: 64,995,011 (GRCm39) |
M921K |
possibly damaging |
Het |
| Kmt2c |
A |
G |
5: 25,515,870 (GRCm39) |
S2658P |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,468,382 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
C |
T |
12: 69,899,493 (GRCm39) |
V53I |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,739,827 (GRCm39) |
S3694P |
probably damaging |
Het |
| Mroh7 |
A |
G |
4: 106,548,749 (GRCm39) |
V1038A |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,370,015 (GRCm39) |
V3185A |
possibly damaging |
Het |
| Mup5 |
T |
A |
4: 61,751,297 (GRCm39) |
N117I |
probably benign |
Het |
| Myo19 |
T |
A |
11: 84,783,023 (GRCm39) |
M179K |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,335,469 (GRCm39) |
I977K |
probably damaging |
Het |
| Nos1 |
T |
C |
5: 118,081,899 (GRCm39) |
V1240A |
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,619,930 (GRCm39) |
D119G |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,758,485 (GRCm39) |
|
probably null |
Het |
| Or4c107 |
A |
T |
2: 88,788,863 (GRCm39) |
N18Y |
probably damaging |
Het |
| Pdlim2 |
A |
G |
14: 70,405,208 (GRCm39) |
V219A |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,805 (GRCm39) |
M355L |
probably benign |
Het |
| Polr1g |
T |
C |
7: 19,091,487 (GRCm39) |
N207D |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,549,128 (GRCm39) |
|
probably null |
Het |
| Rbfox1 |
C |
T |
16: 7,111,952 (GRCm39) |
R173C |
probably damaging |
Het |
| Rbp3 |
T |
A |
14: 33,676,427 (GRCm39) |
V125D |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,227,097 (GRCm39) |
|
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,124,300 (GRCm39) |
I154K |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,837,978 (GRCm39) |
R129C |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 78,901,382 (GRCm39) |
S762P |
probably benign |
Het |
| Slc13a3 |
A |
G |
2: 165,290,619 (GRCm39) |
I67T |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,100,923 (GRCm39) |
M689K |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,884,667 (GRCm39) |
Y1517C |
probably damaging |
Het |
| Txndc2 |
A |
T |
17: 65,945,849 (GRCm39) |
N109K |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,797 (GRCm39) |
|
probably null |
Het |
| Wdfy3 |
A |
T |
5: 102,096,838 (GRCm39) |
L320* |
probably null |
Het |
| Zfp456 |
T |
C |
13: 67,514,995 (GRCm39) |
E237G |
probably benign |
Het |
| Zscan10 |
A |
G |
17: 23,826,147 (GRCm39) |
E103G |
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 |
|
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'- AATCCTTGGGCTCTGAACCC -3'
(R):5'- CTACTGACAGAGATTCCTGAGAGG -3'
Sequencing Primer
(F):5'- GGCTCTGAACCCATCCAGGTAAG -3'
(R):5'- CGATGGTTGGAGCAGGGC -3'
|
| Posted On |
2017-06-29 |
Incidental Mutation