Incidental Mutation 'R4599:Myo1c'
| ID |
345457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
041815-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R4599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75559019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 604
(F604L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
| AlphaFold |
Q9WTI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069057
AA Change: F569L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: F569L
| 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: F569L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: F569L
| 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: F604L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: F604L
| 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: F585L
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: F585L
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,854,626 (GRCm39) |
V930A |
probably benign |
Het |
| Ankrd13b |
T |
C |
11: 77,362,494 (GRCm39) |
R677G |
probably benign |
Het |
| Apc |
T |
A |
18: 34,451,040 (GRCm39) |
Y2611* |
probably null |
Het |
| Apold1 |
A |
G |
6: 134,961,032 (GRCm39) |
Y162C |
probably damaging |
Het |
| Atp6v0a4 |
T |
C |
6: 38,055,737 (GRCm39) |
I325V |
probably benign |
Het |
| Cab39 |
A |
G |
1: 85,776,050 (GRCm39) |
Y249C |
probably damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,325 (GRCm39) |
H239L |
probably damaging |
Het |
| Chrna7 |
A |
G |
7: 62,753,538 (GRCm39) |
M327T |
probably damaging |
Het |
| Cimip2b |
T |
C |
4: 43,427,574 (GRCm39) |
H250R |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,383,657 (GRCm39) |
M499V |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,475,253 (GRCm39) |
E1002G |
probably benign |
Het |
| Clta |
C |
T |
4: 44,012,819 (GRCm39) |
P10S |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,855 (GRCm39) |
|
probably null |
Het |
| Coq6 |
T |
C |
12: 84,408,913 (GRCm39) |
V30A |
probably benign |
Het |
| Csmd2 |
G |
T |
4: 127,881,921 (GRCm39) |
R20L |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,038,528 (GRCm39) |
V1547D |
probably damaging |
Het |
| Dapk1 |
C |
T |
13: 60,865,861 (GRCm39) |
P153S |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,189,536 (GRCm39) |
Y1545F |
probably damaging |
Het |
| Dpp6 |
G |
T |
5: 27,839,546 (GRCm39) |
G354C |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,856 (GRCm39) |
L105P |
probably damaging |
Het |
| Epor |
A |
G |
9: 21,873,155 (GRCm39) |
S86P |
probably benign |
Het |
| Gale |
C |
A |
4: 135,695,148 (GRCm39) |
S341* |
probably null |
Het |
| Galnt4 |
T |
A |
10: 98,945,355 (GRCm39) |
V360E |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,419,833 (GRCm39) |
C24* |
probably null |
Het |
| Gcnt2 |
G |
T |
13: 41,040,966 (GRCm39) |
V42L |
probably benign |
Het |
| Herc6 |
A |
G |
6: 57,636,698 (GRCm39) |
I805V |
probably benign |
Het |
| Ints12 |
T |
A |
3: 132,804,214 (GRCm39) |
I67N |
probably benign |
Het |
| Irx1 |
C |
A |
13: 72,108,232 (GRCm39) |
R150L |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,358,024 (GRCm39) |
Y45C |
unknown |
Het |
| Krt35 |
T |
C |
11: 99,984,834 (GRCm39) |
T275A |
probably damaging |
Het |
| Laptm5 |
G |
T |
4: 130,643,316 (GRCm39) |
|
probably benign |
Het |
| Lin7a |
T |
C |
10: 107,248,027 (GRCm39) |
S111P |
unknown |
Het |
| Med27 |
A |
G |
2: 29,414,470 (GRCm39) |
D159G |
probably damaging |
Het |
| Msh2 |
A |
G |
17: 88,016,006 (GRCm39) |
K546R |
probably damaging |
Het |
| Myo1a |
A |
T |
10: 127,556,020 (GRCm39) |
|
probably null |
Het |
| Myrip |
A |
G |
9: 120,293,850 (GRCm39) |
K782E |
probably damaging |
Het |
| Ndc80 |
T |
C |
17: 71,828,063 (GRCm39) |
D88G |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,505,282 (GRCm39) |
D375G |
probably damaging |
Het |
| Or2y10 |
T |
C |
11: 49,455,545 (GRCm39) |
S266P |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,280 (GRCm39) |
I292V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,525,422 (GRCm39) |
H187R |
probably damaging |
Het |
| Pcdhgb1 |
A |
T |
18: 37,814,610 (GRCm39) |
N367I |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,854,310 (GRCm39) |
I77V |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,895 (GRCm39) |
E930G |
probably benign |
Het |
| Pik3cb |
C |
T |
9: 98,943,817 (GRCm39) |
R662Q |
probably benign |
Het |
| Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,971,237 (GRCm39) |
V177E |
probably damaging |
Het |
| Prmt7 |
A |
G |
8: 106,976,961 (GRCm39) |
S558G |
possibly damaging |
Het |
| Pspc1 |
A |
C |
14: 57,015,246 (GRCm39) |
|
probably null |
Het |
| Rilp |
T |
C |
11: 75,403,586 (GRCm39) |
S343P |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,265,107 (GRCm39) |
M194V |
probably damaging |
Het |
| Rsu1 |
T |
C |
2: 13,174,815 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,324,752 (GRCm39) |
N486S |
probably damaging |
Het |
| Sema6d |
T |
A |
2: 124,496,151 (GRCm39) |
I65N |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,857,601 (GRCm39) |
E230G |
probably benign |
Het |
| Spint1 |
T |
C |
2: 119,076,941 (GRCm39) |
S342P |
probably damaging |
Het |
| Stard3nl |
A |
G |
13: 19,551,923 (GRCm39) |
S214P |
probably damaging |
Het |
| Tcp10a |
A |
C |
17: 7,604,323 (GRCm39) |
T271P |
probably damaging |
Het |
| Tie1 |
A |
G |
4: 118,329,831 (GRCm39) |
Y1091H |
probably benign |
Het |
| Tlr12 |
T |
C |
4: 128,511,125 (GRCm39) |
Y375C |
probably benign |
Het |
| Tmem107 |
T |
A |
11: 68,962,274 (GRCm39) |
M77K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tns3 |
T |
C |
11: 8,481,747 (GRCm39) |
K202E |
probably damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,670,347 (GRCm39) |
P1634L |
probably damaging |
Het |
| Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,844 (GRCm39) |
N4402S |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,322 (GRCm39) |
I703N |
probably damaging |
Het |
| Xrcc4 |
A |
G |
13: 90,210,126 (GRCm39) |
|
probably null |
Het |
| Zp3 |
A |
T |
5: 136,013,089 (GRCm39) |
K168* |
probably null |
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 |
|
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'- AAGCTGAGGTCTCTAACGGG -3'
(R):5'- CTCATCAAAGCGACCTGAGAG -3'
Sequencing Primer
(F):5'- CTGAGGTCTCTAACGGGCTGAAAG -3'
(R):5'- CCGGAGAGTAACAAAGGTGGTCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation