Incidental Mutation 'R8771:Myo1c'
| ID |
664418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1c
|
| Ensembl Gene |
ENSMUSG00000017774 |
| Gene Name |
myosin IC |
| Synonyms |
myr2, mm1beta, C80397, myosin-Ibeta |
| MMRRC Submission |
068602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.684)
|
| Stock # |
R8771 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
75541330-75564736 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75556709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 553
(K553R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069057]
[ENSMUST00000102504]
[ENSMUST00000102505]
[ENSMUST00000108431]
|
| AlphaFold |
Q9WTI7 |
| PDB Structure |
Crystal Structure of Myosin-1c tail in complex with Calmodulin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069057
AA Change: K553R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070388
Gene: ENSMUSG00000017774
AA Change: K553R
| 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: K553R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099562
Gene: ENSMUSG00000017774
AA Change: K553R
| 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: K588R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099563
Gene: ENSMUSG00000017774
AA Change: K588R
| 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: K569R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104069
Gene: ENSMUSG00000017774
AA Change: K569R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (47/47) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,880,320 (GRCm39) |
I451T |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,880,496 (GRCm39) |
K1236E |
unknown |
Het |
| AI661453 |
T |
C |
17: 47,777,683 (GRCm39) |
S470P |
unknown |
Het |
| Ano5 |
C |
A |
7: 51,216,095 (GRCm39) |
N357K |
probably damaging |
Het |
| Ano5 |
C |
T |
7: 51,220,047 (GRCm39) |
Q396* |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,273,151 (GRCm39) |
M1425K |
probably benign |
Het |
| Cdh22 |
A |
T |
2: 164,988,689 (GRCm39) |
V222E |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
| Ces5a |
A |
G |
8: 94,255,249 (GRCm39) |
I144T |
possibly damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,761,940 (GRCm39) |
N1309I |
probably damaging |
Het |
| Dnmt3b |
C |
T |
2: 153,504,734 (GRCm39) |
T112M |
possibly damaging |
Het |
| Eif4g3 |
C |
T |
4: 137,907,848 (GRCm39) |
Q1283* |
probably null |
Het |
| Etnppl |
T |
A |
3: 130,414,024 (GRCm39) |
M41K |
probably damaging |
Het |
| Hhatl |
G |
A |
9: 121,617,776 (GRCm39) |
T271I |
possibly damaging |
Het |
| Igkv5-37 |
A |
G |
6: 69,940,423 (GRCm39) |
S74P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,779 (GRCm39) |
V272A |
probably benign |
Het |
| Lgr6 |
A |
T |
1: 134,933,429 (GRCm39) |
L262* |
probably null |
Het |
| Lrriq3 |
G |
A |
3: 154,899,270 (GRCm39) |
V590I |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,360,668 (GRCm39) |
V382A |
probably damaging |
Het |
| Minar2 |
T |
C |
18: 59,200,052 (GRCm39) |
|
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,240,596 (GRCm39) |
T1429A |
probably benign |
Het |
| Mroh5 |
A |
T |
15: 73,693,203 (GRCm39) |
M79K |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
| Or4c12 |
T |
C |
2: 89,773,565 (GRCm39) |
K298R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,294 (GRCm39) |
Y149C |
probably benign |
Het |
| Or5m10b |
T |
G |
2: 85,699,712 (GRCm39) |
Y259D |
probably damaging |
Het |
| Or5p76 |
T |
A |
7: 108,122,632 (GRCm39) |
N175I |
possibly damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,819,811 (GRCm39) |
W148R |
probably damaging |
Het |
| Ptpn2 |
G |
T |
18: 67,805,659 (GRCm39) |
T402K |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,068,987 (GRCm39) |
M1665T |
possibly damaging |
Het |
| Raet1e |
G |
T |
10: 22,057,041 (GRCm39) |
V122F |
probably damaging |
Het |
| Serpina3m |
A |
G |
12: 104,357,841 (GRCm39) |
E255G |
probably damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,188,624 (GRCm39) |
Y828C |
probably damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,989 (GRCm39) |
H4L |
probably benign |
Het |
| Sptssa |
A |
G |
12: 54,703,211 (GRCm39) |
Y20H |
probably damaging |
Het |
| Synpo2l |
A |
G |
14: 20,710,491 (GRCm39) |
S939P |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,010,800 (GRCm39) |
V568A |
probably damaging |
Het |
| Tmem132c |
C |
T |
5: 127,437,192 (GRCm39) |
P227L |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,286,180 (GRCm39) |
S548P |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,721,018 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,762 (GRCm39) |
Y436C |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,685,554 (GRCm39) |
D2226G |
possibly damaging |
Het |
| Vmn1r142 |
T |
C |
7: 21,862,737 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r12 |
T |
G |
5: 109,239,952 (GRCm39) |
T204P |
possibly damaging |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r61 |
C |
A |
7: 41,916,194 (GRCm39) |
A269D |
probably damaging |
Het |
| Zfp148 |
A |
G |
16: 33,317,656 (GRCm39) |
D776G |
possibly damaging |
Het |
| Zfp775 |
A |
T |
6: 48,596,906 (GRCm39) |
Q260L |
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 |
|
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'- ATGACCTCCTCTTCCGGAAC -3'
(R):5'- AGTCTACATTTGGAGAAGGGC -3'
Sequencing Primer
(F):5'- TCTTCCGGAACCTGAAGGAG -3'
(R):5'- ACAACCATCTGTCAGGGGATCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation