Incidental Mutation 'R0257:Myo1c'
| ID |
177943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
038488-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R0257 (G1)
|
| Quality Score |
29 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 75556342 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
| AlphaFold |
Q9WTI7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000069057
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
| 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 null
Transcript: ENSMUST00000102504
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
| 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 null
Transcript: ENSMUST00000102505
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
| 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 null
Transcript: ENSMUST00000102505
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
| 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 null
Transcript: ENSMUST00000108431
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
| 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
|
| Meta Mutation Damage Score |
0.9496 |
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.5%
- 10x: 95.7%
- 20x: 92.2%
|
| Validation Efficiency |
99% (67/68) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
T |
A |
11: 84,401,107 (GRCm39) |
E171D |
probably benign |
Het |
| Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
| Adgre5 |
T |
A |
8: 84,458,624 (GRCm39) |
H134L |
possibly damaging |
Het |
| Ahsg |
A |
T |
16: 22,717,790 (GRCm39) |
M256L |
probably benign |
Het |
| Alk |
A |
T |
17: 72,910,490 (GRCm39) |
L72Q |
probably damaging |
Het |
| Ano2 |
C |
A |
6: 125,857,676 (GRCm39) |
A505E |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,712,865 (GRCm39) |
K908E |
probably benign |
Het |
| C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
| Car2 |
C |
G |
3: 14,965,037 (GRCm39) |
H224D |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,071,773 (GRCm39) |
D287G |
probably benign |
Het |
| Disp3 |
G |
T |
4: 148,335,211 (GRCm39) |
N944K |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,661,671 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,708,123 (GRCm39) |
E1281G |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,870 (GRCm39) |
|
probably benign |
Het |
| Dtx3 |
T |
C |
10: 127,028,761 (GRCm39) |
D159G |
probably benign |
Het |
| Ets2 |
T |
A |
16: 95,513,245 (GRCm39) |
C140* |
probably null |
Het |
| Fbf1 |
T |
C |
11: 116,045,917 (GRCm39) |
I226V |
probably benign |
Het |
| Fgd6 |
T |
A |
10: 93,879,777 (GRCm39) |
H210Q |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,734,898 (GRCm39) |
T179A |
probably benign |
Het |
| Galnt10 |
T |
C |
11: 57,671,904 (GRCm39) |
M398T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 61,065,068 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
A |
G |
8: 121,299,073 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,259,176 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,861,052 (GRCm39) |
|
probably null |
Het |
| Lama4 |
T |
C |
10: 38,970,880 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
A |
G |
7: 54,899,194 (GRCm39) |
T271A |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,693,534 (GRCm39) |
V1053D |
probably damaging |
Het |
| Mrm1 |
A |
C |
11: 84,705,649 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
G |
C |
17: 35,251,840 (GRCm39) |
R407G |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,613,688 (GRCm39) |
|
probably benign |
Het |
| Nrxn2 |
A |
G |
19: 6,540,728 (GRCm39) |
I894V |
possibly damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Pde4a |
C |
T |
9: 21,103,717 (GRCm39) |
P175L |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,150,930 (GRCm39) |
A628E |
possibly damaging |
Het |
| Piwil2 |
C |
T |
14: 70,660,080 (GRCm39) |
S139N |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,786,092 (GRCm39) |
K721E |
possibly damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,495,382 (GRCm39) |
S57Y |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,589,842 (GRCm39) |
V100M |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,664 (GRCm39) |
M199L |
probably benign |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,682,761 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
T |
1: 93,192,819 (GRCm39) |
S369C |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,890,186 (GRCm39) |
F539L |
probably benign |
Het |
| Stam2 |
C |
T |
2: 52,584,794 (GRCm39) |
G500D |
possibly damaging |
Het |
| Stx16 |
G |
A |
2: 173,938,754 (GRCm39) |
V307M |
probably benign |
Het |
| Svep1 |
G |
A |
4: 58,179,610 (GRCm39) |
S211L |
possibly damaging |
Het |
| Tcf12 |
C |
T |
9: 71,765,904 (GRCm39) |
S512N |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,501,088 (GRCm39) |
V909A |
possibly damaging |
Het |
| Tmem64 |
C |
T |
4: 15,266,343 (GRCm39) |
A131V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,778,556 (GRCm39) |
N1176K |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,741,045 (GRCm39) |
S1264L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,640,775 (GRCm39) |
T13658S |
possibly damaging |
Het |
| Vmn2r104 |
G |
A |
17: 20,249,889 (GRCm39) |
T794I |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,904,982 (GRCm39) |
R286* |
probably null |
Het |
| Vps53 |
A |
T |
11: 76,068,211 (GRCm39) |
|
probably benign |
Het |
| Wdr18 |
A |
G |
10: 79,796,953 (GRCm39) |
|
probably benign |
Het |
| Wdr31 |
A |
G |
4: 62,378,755 (GRCm39) |
|
probably null |
Het |
| Zfp458 |
T |
A |
13: 67,407,706 (GRCm39) |
K47* |
probably null |
Het |
| Zfp983 |
A |
G |
17: 21,880,356 (GRCm39) |
T95A |
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 |
|
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 |
|
R9782:Myo1c
|
UTSW |
11 |
75,549,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGAGCCCAAGTTCCTATTCC -3'
(R):5'- TGCACATGGTCTGTGAGGCAGAAG -3'
Sequencing Primer
(F):5'- AGTTGTGCATCCCTGGAC -3'
(R):5'- TTTATCCAGAAACCCTGGAAAGG -3'
|
| Posted On |
2014-05-06 |
Incidental Mutation