Incidental Mutation 'R5756:Myo1c'
| ID |
445056 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
043359-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R5756 (G1)
|
| Quality Score |
168 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 75549240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 137
(M137R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
[ENSMUST00000136935]
|
| AlphaFold |
Q9WTI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069057
AA Change: M102R
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: M102R
| 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 benign
Transcript: ENSMUST00000102504
AA Change: M102R
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: M102R
| 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 benign
Transcript: ENSMUST00000102505
AA Change: M137R
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: M137R
| 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: M118R
PolyPhen 2
Score 0.368 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: M118R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151174
|
| Meta Mutation Damage Score |
0.4016 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| 4930579C12Rik |
A |
G |
9: 89,010,919 (GRCm39) |
|
noncoding transcript |
Het |
| Aqp6 |
A |
T |
15: 99,500,623 (GRCm39) |
I183F |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,039,556 (GRCm39) |
M218K |
probably damaging |
Het |
| Astn2 |
G |
A |
4: 66,037,425 (GRCm39) |
|
probably benign |
Het |
| Bmp5 |
A |
G |
9: 75,683,649 (GRCm39) |
D92G |
probably benign |
Het |
| Cables1 |
A |
G |
18: 12,074,410 (GRCm39) |
D511G |
probably damaging |
Het |
| Cacna1e |
A |
G |
1: 154,347,383 (GRCm39) |
M928T |
probably benign |
Het |
| Calcoco1 |
T |
C |
15: 102,628,086 (GRCm39) |
N16S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,943,793 (GRCm39) |
Q710L |
unknown |
Het |
| Coro7 |
C |
T |
16: 4,450,148 (GRCm39) |
R567Q |
probably damaging |
Het |
| Dgki |
C |
T |
6: 36,913,993 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
T |
C |
6: 85,929,339 (GRCm39) |
I147V |
probably damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,293,221 (GRCm39) |
I1259T |
possibly damaging |
Het |
| Elapor2 |
A |
C |
5: 9,512,995 (GRCm39) |
K996N |
probably damaging |
Het |
| Etfdh |
T |
C |
3: 79,521,063 (GRCm39) |
I219V |
probably benign |
Het |
| Ffar4 |
C |
T |
19: 38,102,406 (GRCm39) |
T347I |
probably damaging |
Het |
| Fgf3 |
G |
A |
7: 144,396,688 (GRCm39) |
S234N |
probably benign |
Het |
| Fnta |
A |
T |
8: 26,499,735 (GRCm39) |
I155N |
possibly damaging |
Het |
| Gcm2 |
G |
A |
13: 41,263,372 (GRCm39) |
T20M |
probably damaging |
Het |
| Ggt5 |
A |
T |
10: 75,440,607 (GRCm39) |
M243L |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,395 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gm5454 |
A |
G |
13: 103,492,855 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hrc |
T |
C |
7: 44,986,130 (GRCm39) |
V427A |
possibly damaging |
Het |
| Ibtk |
C |
G |
9: 85,613,307 (GRCm39) |
V219L |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,247,787 (GRCm39) |
H215R |
possibly damaging |
Het |
| Itln1 |
A |
G |
1: 171,344,485 (GRCm39) |
|
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,973,754 (GRCm39) |
I368T |
probably damaging |
Het |
| Lars2 |
T |
C |
9: 123,267,264 (GRCm39) |
Y529H |
probably damaging |
Het |
| Lrrc55 |
G |
A |
2: 85,026,727 (GRCm39) |
T99I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,371,410 (GRCm39) |
I4156N |
probably damaging |
Het |
| Or51i1 |
T |
C |
7: 103,670,889 (GRCm39) |
D212G |
probably damaging |
Het |
| Or6c8b |
A |
G |
10: 128,882,095 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b54 |
T |
A |
9: 38,686,554 (GRCm39) |
M1K |
probably null |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Phyhip |
T |
G |
14: 70,704,532 (GRCm39) |
C250W |
probably damaging |
Het |
| Pisd |
G |
A |
5: 32,895,842 (GRCm39) |
T412I |
probably damaging |
Het |
| Polr3c |
T |
C |
3: 96,621,450 (GRCm39) |
N444S |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,430,497 (GRCm39) |
E750G |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,940,204 (GRCm39) |
V675A |
probably damaging |
Het |
| Slc4a11 |
G |
T |
2: 130,529,783 (GRCm39) |
D307E |
probably benign |
Het |
| Slc6a16 |
A |
T |
7: 44,910,274 (GRCm39) |
I315F |
possibly damaging |
Het |
| Smarca5 |
A |
C |
8: 81,437,233 (GRCm39) |
S708A |
probably benign |
Het |
| Sv2c |
T |
C |
13: 96,122,475 (GRCm39) |
I434V |
probably benign |
Het |
| Tars3 |
A |
G |
7: 65,325,724 (GRCm39) |
K433E |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,402 (GRCm39) |
I165F |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,074,836 (GRCm39) |
|
probably null |
Het |
| Tex15 |
G |
A |
8: 34,065,861 (GRCm39) |
G1764S |
probably benign |
Het |
| Tnfrsf19 |
A |
G |
14: 61,262,224 (GRCm39) |
L13P |
probably benign |
Het |
| Tnnt3 |
G |
A |
7: 142,056,495 (GRCm39) |
|
probably null |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,219,680 (GRCm39) |
I597K |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,879,413 (GRCm39) |
R960Q |
possibly damaging |
Het |
| Vps53 |
A |
T |
11: 75,983,156 (GRCm39) |
|
probably benign |
Het |
| Xylt1 |
C |
T |
7: 117,249,927 (GRCm39) |
T699I |
probably damaging |
Het |
| Zfp81 |
A |
C |
17: 33,553,307 (GRCm39) |
Y502* |
probably null |
Het |
| Zfyve26 |
T |
A |
12: 79,311,131 (GRCm39) |
H145L |
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 |
|
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 |
|
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'- CTTGGAGTGATCCTCAGCTG -3'
(R):5'- AAGCCTGGCATTGTCTTGTC -3'
Sequencing Primer
(F):5'- AGTGATCCTCAGCTGGGCAG -3'
(R):5'- GGCATTGTCTTGTCTACCCC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation