Incidental Mutation 'R9782:Myo1c'
| ID |
734130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R9782 (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 75549273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 113
(E113G)
|
| 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 damaging
Transcript: ENSMUST00000069057
AA Change: E113G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: E113G
| 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: E113G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: E113G
| 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: E148G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: E148G
| 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: E129G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: E129G
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,053,796 (GRCm39) |
M1K |
probably null |
Het |
| Atoh8 |
A |
T |
6: 72,200,848 (GRCm39) |
L281M |
possibly damaging |
Het |
| Bckdha |
A |
G |
7: 25,340,880 (GRCm39) |
|
probably null |
Het |
| Chil6 |
A |
T |
3: 106,296,121 (GRCm39) |
Y371* |
probably null |
Het |
| Cilk1 |
A |
T |
9: 78,048,520 (GRCm39) |
Q108L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,522,376 (GRCm39) |
H164Q |
probably benign |
Het |
| Gucd1 |
T |
G |
10: 75,345,650 (GRCm39) |
D135A |
probably benign |
Het |
| Hacd1 |
A |
G |
2: 14,040,751 (GRCm39) |
I168T |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,021,896 (GRCm39) |
E1013G |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,999,217 (GRCm39) |
|
probably null |
Het |
| Ift140 |
G |
T |
17: 25,264,151 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
T |
3: 101,338,612 (GRCm39) |
I309F |
probably benign |
Het |
| Imp4 |
T |
A |
1: 34,482,901 (GRCm39) |
L164Q |
probably damaging |
Het |
| Jazf1 |
C |
T |
6: 52,747,311 (GRCm39) |
V204I |
probably benign |
Het |
| Kmt2d |
T |
A |
15: 98,764,597 (GRCm39) |
D2V |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,899,910 (GRCm39) |
V537A |
probably benign |
Het |
| Mep1b |
A |
T |
18: 21,208,720 (GRCm39) |
D32V |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,306,066 (GRCm39) |
|
probably null |
Het |
| Morn3 |
C |
T |
5: 123,175,822 (GRCm39) |
V189M |
probably damaging |
Het |
| Mri1 |
C |
T |
8: 84,980,933 (GRCm39) |
C199Y |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,713,293 (GRCm39) |
M490T |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,548,066 (GRCm39) |
T6076A |
possibly damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,052 (GRCm39) |
V157D |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,214,192 (GRCm39) |
V449A |
probably damaging |
Het |
| Ogdhl |
C |
T |
14: 32,061,909 (GRCm39) |
T528M |
probably damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,835 (GRCm39) |
V303M |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,830,067 (GRCm39) |
V166A |
probably damaging |
Het |
| Pcdhb12 |
AT |
A |
18: 37,570,393 (GRCm39) |
|
probably null |
Het |
| Pigo |
T |
C |
4: 43,023,475 (GRCm39) |
D233G |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,516,237 (GRCm39) |
V562G |
possibly damaging |
Het |
| Plxna1 |
C |
A |
6: 89,333,817 (GRCm39) |
A271S |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,766 (GRCm39) |
S716N |
probably damaging |
Het |
| Prss12 |
G |
A |
3: 123,271,762 (GRCm39) |
G256S |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,164,331 (GRCm39) |
M127K |
probably benign |
Het |
| Psmf1 |
T |
C |
2: 151,577,533 (GRCm39) |
D48G |
possibly damaging |
Het |
| Rabggta |
T |
A |
14: 55,955,944 (GRCm39) |
M438L |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,643,479 (GRCm39) |
I911V |
probably damaging |
Het |
| Rbck1 |
T |
C |
2: 152,165,113 (GRCm39) |
E297G |
probably damaging |
Het |
| Rras |
A |
T |
7: 44,669,945 (GRCm39) |
I126F |
probably damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,041,813 (GRCm39) |
R465G |
probably null |
Het |
| Slc28a2b |
T |
A |
2: 122,352,338 (GRCm39) |
I365N |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,340,172 (GRCm39) |
T437A |
probably benign |
Het |
| Son |
A |
T |
16: 91,444,838 (GRCm39) |
S15C |
probably damaging |
Het |
| Spata31e1 |
C |
T |
13: 49,939,542 (GRCm39) |
V723M |
possibly damaging |
Het |
| Sptbn4 |
G |
T |
7: 27,107,993 (GRCm39) |
Q810K |
probably benign |
Het |
| Tmtc2 |
T |
C |
10: 105,026,062 (GRCm39) |
Y802C |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,758,716 (GRCm39) |
M2181K |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,530,767 (GRCm39) |
S282P |
probably damaging |
Het |
| Zbtb7a |
G |
A |
10: 80,979,910 (GRCm39) |
D35N |
probably damaging |
Het |
| Zc3h3 |
C |
A |
15: 75,681,489 (GRCm39) |
V531L |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,514 (GRCm39) |
D2249G |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 74,520,932 (GRCm39) |
K49E |
probably benign |
Het |
| Zfp942 |
T |
C |
17: 22,147,463 (GRCm39) |
T389A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTTACAAGAGTGGTTCCCGTC -3'
(R):5'- ACCGGCTGGAGTTATCGTTG -3'
Sequencing Primer
(F):5'- CAAGAGTGGTTCCCGTCAGGTATAG -3'
(R):5'- CATTCCCAAAGGCCTGAAGGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation