Incidental Mutation 'R7188:Mybpc2'
ID |
559427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mybpc2
|
Ensembl Gene |
ENSMUSG00000038670 |
Gene Name |
myosin binding protein C, fast-type |
Synonyms |
Fast-type C-protein |
MMRRC Submission |
045272-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7188 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44155617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 879
(S879P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165208]
|
AlphaFold |
Q5XKE0 |
PDB Structure |
Solution structure of the fibronectin type-III domain of mouse myosin-binding protein C, Fast-type homolog [SOLUTION NMR]
Solution structure of the Ig-like domain(433- 525) of murine myosin-binding protein C, fast-type [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165208
AA Change: S879P
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000130127 Gene: ENSMUSG00000038670 AA Change: S879P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
IG
|
54 |
150 |
6.26e-5 |
SMART |
PDB:2LHU|A
|
160 |
236 |
7e-9 |
PDB |
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
IG
|
258 |
337 |
5.21e-2 |
SMART |
IG
|
347 |
430 |
1.2e-1 |
SMART |
IG
|
440 |
526 |
2.72e-5 |
SMART |
IG
|
546 |
631 |
1.68e-5 |
SMART |
FN3
|
634 |
717 |
3.29e-11 |
SMART |
FN3
|
732 |
815 |
1.23e-10 |
SMART |
IG
|
842 |
925 |
6.07e-3 |
SMART |
FN3
|
928 |
1010 |
2.08e-8 |
SMART |
IGc2
|
1055 |
1122 |
6.91e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207516
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,554,600 (GRCm39) |
Y118C |
possibly damaging |
Het |
Abcb6 |
A |
G |
1: 75,150,781 (GRCm39) |
|
probably null |
Het |
Acox2 |
T |
A |
14: 8,252,996 (GRCm38) |
I236L |
possibly damaging |
Het |
Adamts12 |
A |
T |
15: 11,336,411 (GRCm39) |
K1499* |
probably null |
Het |
Ankrd24 |
G |
T |
10: 81,472,224 (GRCm39) |
E20* |
probably null |
Het |
Arsa |
A |
T |
15: 89,359,830 (GRCm39) |
Y32* |
probably null |
Het |
Atp9b |
A |
G |
18: 80,961,041 (GRCm39) |
S57P |
|
Het |
Atr |
G |
T |
9: 95,744,844 (GRCm39) |
E54* |
probably null |
Het |
Bace1 |
A |
G |
9: 45,767,393 (GRCm39) |
D192G |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,004,162 (GRCm39) |
T1624S |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,615,744 (GRCm39) |
V129A |
probably damaging |
Het |
Cacna1d |
T |
C |
14: 29,811,790 (GRCm39) |
S1309G |
probably benign |
Het |
Cd177 |
G |
T |
7: 24,456,072 (GRCm39) |
T232K |
probably damaging |
Het |
Chil4 |
T |
A |
3: 106,111,475 (GRCm39) |
D213V |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,182,546 (GRCm39) |
I3538N |
probably damaging |
Het |
Cyp26a1 |
T |
A |
19: 37,687,753 (GRCm39) |
M287K |
possibly damaging |
Het |
Dcaf5 |
T |
C |
12: 80,446,732 (GRCm39) |
D129G |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,536,370 (GRCm39) |
K2095N |
probably benign |
Het |
Dnpep |
G |
A |
1: 75,292,701 (GRCm39) |
S106L |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,189,675 (GRCm39) |
E1499K |
possibly damaging |
Het |
Dus4l |
A |
G |
12: 31,696,714 (GRCm39) |
F88L |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,166,830 (GRCm39) |
D54E |
probably benign |
Het |
Fign |
T |
A |
2: 63,809,950 (GRCm39) |
H440L |
possibly damaging |
Het |
Gabpa |
A |
G |
16: 84,643,174 (GRCm39) |
D157G |
probably damaging |
Het |
Gapdh |
T |
A |
6: 125,142,403 (GRCm39) |
|
probably benign |
Het |
Gbp8 |
G |
T |
5: 105,164,081 (GRCm39) |
R406S |
probably benign |
Het |
Gm21775 |
A |
G |
Y: 10,553,894 (GRCm39) |
R148G |
possibly damaging |
Het |
Gm28363 |
G |
A |
1: 117,626,579 (GRCm39) |
V6I |
unknown |
Het |
Gmps |
A |
G |
3: 63,918,982 (GRCm39) |
D522G |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,842,687 (GRCm39) |
S531P |
probably damaging |
Het |
Hars2 |
G |
T |
18: 36,923,614 (GRCm39) |
E468D |
probably benign |
Het |
Jph4 |
C |
A |
14: 55,352,664 (GRCm39) |
R23L |
probably damaging |
Het |
Kctd12 |
T |
A |
14: 103,219,230 (GRCm39) |
Y216F |
probably benign |
Het |
L3mbtl1 |
G |
A |
2: 162,791,460 (GRCm39) |
|
probably null |
Het |
Lama4 |
G |
A |
10: 38,841,729 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,926,675 (GRCm39) |
S3494T |
possibly damaging |
Het |
Ncaph |
C |
T |
2: 126,964,034 (GRCm39) |
V304M |
probably benign |
Het |
Noto |
A |
T |
6: 85,405,047 (GRCm39) |
I229F |
possibly damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,597,731 (GRCm39) |
M170V |
unknown |
Het |
Or4c29 |
T |
C |
2: 88,740,203 (GRCm39) |
D178G |
probably damaging |
Het |
Or8k25 |
T |
A |
2: 86,243,695 (GRCm39) |
K234* |
probably null |
Het |
Pald1 |
A |
T |
10: 61,182,845 (GRCm39) |
V368E |
probably damaging |
Het |
Pde9a |
T |
A |
17: 31,678,071 (GRCm39) |
M217K |
probably damaging |
Het |
Pira1 |
A |
T |
7: 3,741,828 (GRCm39) |
V184E |
probably damaging |
Het |
Pitpnm2 |
G |
T |
5: 124,259,366 (GRCm39) |
A1323E |
probably benign |
Het |
Ppp1r3a |
T |
C |
6: 14,719,190 (GRCm39) |
S575G |
probably benign |
Het |
Prok1 |
T |
C |
3: 107,146,941 (GRCm39) |
I9V |
probably benign |
Het |
Ptprc |
A |
T |
1: 137,998,918 (GRCm39) |
V905D |
probably damaging |
Het |
Rbm25 |
G |
T |
12: 83,710,772 (GRCm39) |
G295V |
unknown |
Het |
Rreb1 |
T |
C |
13: 38,100,544 (GRCm39) |
M225T |
possibly damaging |
Het |
Ryr3 |
T |
C |
2: 112,858,989 (GRCm39) |
K55E |
probably damaging |
Het |
Saxo4 |
T |
A |
19: 10,459,702 (GRCm39) |
M2L |
probably benign |
Het |
Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
Setx |
C |
A |
2: 29,038,184 (GRCm39) |
D1556E |
probably benign |
Het |
Sft2d1 |
C |
T |
17: 8,542,164 (GRCm39) |
T136I |
possibly damaging |
Het |
Sirt5 |
C |
T |
13: 43,525,380 (GRCm39) |
A63V |
possibly damaging |
Het |
Skor2 |
A |
G |
18: 76,947,504 (GRCm39) |
T409A |
possibly damaging |
Het |
Slc12a6 |
T |
C |
2: 112,164,760 (GRCm39) |
M153T |
probably benign |
Het |
Slc34a1 |
A |
G |
13: 24,006,348 (GRCm39) |
Y458C |
probably damaging |
Het |
Slc36a2 |
A |
G |
11: 55,053,483 (GRCm39) |
V385A |
possibly damaging |
Het |
St6galnac5 |
A |
T |
3: 152,552,131 (GRCm39) |
H145Q |
probably damaging |
Het |
Tal1 |
T |
A |
4: 114,925,610 (GRCm39) |
N226K |
probably damaging |
Het |
Tgtp2 |
G |
C |
11: 48,950,135 (GRCm39) |
R146G |
probably damaging |
Het |
Usp6nl |
T |
C |
2: 6,445,330 (GRCm39) |
S436P |
probably benign |
Het |
Utp3 |
A |
G |
5: 88,702,621 (GRCm39) |
E50G |
probably benign |
Het |
Zfp12 |
A |
T |
5: 143,225,749 (GRCm39) |
Q19L |
probably damaging |
Het |
|
Other mutations in Mybpc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Mybpc2
|
APN |
7 |
44,154,829 (GRCm39) |
unclassified |
probably benign |
|
IGL00586:Mybpc2
|
APN |
7 |
44,154,806 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00976:Mybpc2
|
APN |
7 |
44,171,741 (GRCm39) |
splice site |
probably null |
|
IGL01099:Mybpc2
|
APN |
7 |
44,165,591 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01348:Mybpc2
|
APN |
7 |
44,165,352 (GRCm39) |
missense |
probably benign |
|
IGL01625:Mybpc2
|
APN |
7 |
44,166,337 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01733:Mybpc2
|
APN |
7 |
44,155,622 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01946:Mybpc2
|
APN |
7 |
44,159,322 (GRCm39) |
unclassified |
probably benign |
|
IGL02078:Mybpc2
|
APN |
7 |
44,153,204 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02314:Mybpc2
|
APN |
7 |
44,171,812 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02341:Mybpc2
|
APN |
7 |
44,164,354 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02904:Mybpc2
|
APN |
7 |
44,171,765 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03034:Mybpc2
|
APN |
7 |
44,161,321 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03296:Mybpc2
|
APN |
7 |
44,156,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:Mybpc2
|
UTSW |
7 |
44,166,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0330:Mybpc2
|
UTSW |
7 |
44,158,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0336:Mybpc2
|
UTSW |
7 |
44,155,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R0503:Mybpc2
|
UTSW |
7 |
44,161,994 (GRCm39) |
unclassified |
probably benign |
|
R0821:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0822:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0823:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0854:Mybpc2
|
UTSW |
7 |
44,166,426 (GRCm39) |
missense |
probably benign |
0.06 |
R0938:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0939:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0940:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R0941:Mybpc2
|
UTSW |
7 |
44,156,311 (GRCm39) |
missense |
probably benign |
0.02 |
R1166:Mybpc2
|
UTSW |
7 |
44,154,449 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1219:Mybpc2
|
UTSW |
7 |
44,165,458 (GRCm39) |
splice site |
probably null |
|
R1559:Mybpc2
|
UTSW |
7 |
44,163,111 (GRCm39) |
missense |
probably benign |
0.01 |
R1732:Mybpc2
|
UTSW |
7 |
44,163,099 (GRCm39) |
missense |
probably benign |
|
R1802:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2157:Mybpc2
|
UTSW |
7 |
44,159,269 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2216:Mybpc2
|
UTSW |
7 |
44,161,924 (GRCm39) |
splice site |
probably null |
|
R2406:Mybpc2
|
UTSW |
7 |
44,171,149 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2411:Mybpc2
|
UTSW |
7 |
44,155,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R3079:Mybpc2
|
UTSW |
7 |
44,155,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Mybpc2
|
UTSW |
7 |
44,155,066 (GRCm39) |
missense |
probably damaging |
0.99 |
R4736:Mybpc2
|
UTSW |
7 |
44,161,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R5316:Mybpc2
|
UTSW |
7 |
44,169,806 (GRCm39) |
nonsense |
probably null |
|
R5426:Mybpc2
|
UTSW |
7 |
44,159,253 (GRCm39) |
missense |
probably benign |
0.01 |
R5498:Mybpc2
|
UTSW |
7 |
44,165,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Mybpc2
|
UTSW |
7 |
44,164,317 (GRCm39) |
missense |
probably benign |
0.17 |
R5644:Mybpc2
|
UTSW |
7 |
44,156,477 (GRCm39) |
missense |
probably benign |
0.13 |
R5909:Mybpc2
|
UTSW |
7 |
44,156,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R6435:Mybpc2
|
UTSW |
7 |
44,155,481 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6662:Mybpc2
|
UTSW |
7 |
44,155,590 (GRCm39) |
missense |
probably benign |
|
R6901:Mybpc2
|
UTSW |
7 |
44,154,779 (GRCm39) |
missense |
probably damaging |
0.99 |
R7389:Mybpc2
|
UTSW |
7 |
44,155,028 (GRCm39) |
missense |
probably benign |
0.11 |
R7405:Mybpc2
|
UTSW |
7 |
44,156,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Mybpc2
|
UTSW |
7 |
44,155,571 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7597:Mybpc2
|
UTSW |
7 |
44,159,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R7772:Mybpc2
|
UTSW |
7 |
44,165,348 (GRCm39) |
critical splice donor site |
probably null |
|
R7824:Mybpc2
|
UTSW |
7 |
44,154,284 (GRCm39) |
splice site |
probably null |
|
R8003:Mybpc2
|
UTSW |
7 |
44,158,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R8179:Mybpc2
|
UTSW |
7 |
44,159,254 (GRCm39) |
missense |
probably benign |
0.01 |
R8187:Mybpc2
|
UTSW |
7 |
44,161,894 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8413:Mybpc2
|
UTSW |
7 |
44,157,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R8729:Mybpc2
|
UTSW |
7 |
44,155,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R8830:Mybpc2
|
UTSW |
7 |
44,161,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R9377:Mybpc2
|
UTSW |
7 |
44,158,999 (GRCm39) |
missense |
probably benign |
0.22 |
R9441:Mybpc2
|
UTSW |
7 |
44,166,330 (GRCm39) |
missense |
probably null |
0.96 |
X0052:Mybpc2
|
UTSW |
7 |
44,156,566 (GRCm39) |
missense |
probably benign |
0.23 |
X0065:Mybpc2
|
UTSW |
7 |
44,154,809 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Mybpc2
|
UTSW |
7 |
44,165,927 (GRCm39) |
missense |
possibly damaging |
0.47 |
Z1176:Mybpc2
|
UTSW |
7 |
44,171,120 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAGAGTCCCTAAAGCCTGG -3'
(R):5'- AACAGAGCCATGACCAGAGTTTG -3'
Sequencing Primer
(F):5'- TTTTGACAGTAGCCCAGGC -3'
(R):5'- CCAGAGTTTGGTGGGGATCAG -3'
|
Posted On |
2019-06-26 |