Incidental Mutation 'R4736:Mybpc2'
| ID |
359248 |
| 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 |
041963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4736 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44161971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 493
(D493G)
|
| 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 damaging
Transcript: ENSMUST00000165208
AA Change: D493G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: D493G
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,246 (GRCm39) |
I1145T |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,993,140 (GRCm39) |
V360A |
probably benign |
Het |
| Abhd16a |
A |
T |
17: 35,320,859 (GRCm39) |
T436S |
probably benign |
Het |
| Acbd5 |
G |
T |
2: 22,989,596 (GRCm39) |
L406F |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,256,858 (GRCm39) |
T1142M |
probably benign |
Het |
| Aig1 |
C |
A |
10: 13,677,674 (GRCm39) |
W106L |
probably damaging |
Het |
| Akr1d1 |
T |
C |
6: 37,534,535 (GRCm39) |
|
probably null |
Het |
| Ap1g1 |
G |
A |
8: 110,581,714 (GRCm39) |
D658N |
possibly damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,862,006 (GRCm39) |
Y520C |
probably damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
| Asic5 |
C |
T |
3: 81,907,116 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cabp5 |
A |
G |
7: 13,134,664 (GRCm39) |
|
probably null |
Het |
| Ccr6 |
A |
T |
17: 8,474,896 (GRCm39) |
R34* |
probably null |
Het |
| Cdin1 |
A |
G |
2: 115,412,369 (GRCm39) |
I2V |
probably benign |
Het |
| Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
| Cmtr1 |
A |
G |
17: 29,919,216 (GRCm39) |
E704G |
possibly damaging |
Het |
| Cyth3 |
G |
A |
5: 143,670,234 (GRCm39) |
|
probably null |
Het |
| Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,795 (GRCm39) |
H468R |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,132,666 (GRCm39) |
M1237V |
probably benign |
Het |
| Dpp6 |
A |
G |
5: 27,917,657 (GRCm39) |
Y616C |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,006,862 (GRCm39) |
S3710T |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,508,310 (GRCm39) |
T45I |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,966,891 (GRCm39) |
D685V |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,008,975 (GRCm39) |
S366P |
probably benign |
Het |
| Gbe1 |
C |
T |
16: 70,292,141 (GRCm39) |
A491V |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,518,986 (GRCm39) |
|
probably null |
Het |
| Heca |
G |
A |
10: 17,790,935 (GRCm39) |
Q12* |
probably null |
Het |
| Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,249,840 (GRCm39) |
Q2261L |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,005,706 (GRCm39) |
R290L |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,102,808 (GRCm39) |
L480I |
probably benign |
Het |
| Kif27 |
T |
C |
13: 58,476,785 (GRCm39) |
T622A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,080,925 (GRCm39) |
N966S |
probably damaging |
Het |
| Mdfic |
A |
G |
6: 15,741,019 (GRCm39) |
K38E |
possibly damaging |
Het |
| Med25 |
G |
A |
7: 44,541,712 (GRCm39) |
A26V |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,329 (GRCm39) |
S77R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,862,474 (GRCm39) |
D1485V |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,131,746 (GRCm39) |
T69A |
probably benign |
Het |
| Myo16 |
G |
T |
8: 10,423,527 (GRCm39) |
G288W |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,809,236 (GRCm39) |
L1815P |
probably damaging |
Het |
| Myom2 |
T |
A |
8: 15,131,271 (GRCm39) |
L323Q |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nktr |
T |
A |
9: 121,578,805 (GRCm39) |
|
probably benign |
Het |
| Nol10 |
A |
G |
12: 17,405,288 (GRCm39) |
K88E |
probably damaging |
Het |
| Nol4 |
T |
C |
18: 22,852,050 (GRCm39) |
D505G |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,101,454 (GRCm39) |
N374K |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,954,362 (GRCm39) |
L3740Q |
probably damaging |
Het |
| Or5g23 |
T |
C |
2: 85,438,327 (GRCm39) |
H309R |
probably benign |
Het |
| Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
| Pgm5 |
G |
A |
19: 24,812,169 (GRCm39) |
A121V |
probably damaging |
Het |
| Pi4ka |
A |
T |
16: 17,195,039 (GRCm39) |
Y120N |
probably benign |
Het |
| Rpl36al |
G |
A |
12: 69,229,732 (GRCm39) |
A60V |
possibly damaging |
Het |
| Rspo4 |
T |
C |
2: 151,685,054 (GRCm39) |
Y21H |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,412 (GRCm39) |
V455A |
probably benign |
Het |
| Serpina1f |
T |
C |
12: 103,659,805 (GRCm39) |
D159G |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,415,694 (GRCm39) |
D11G |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,067,332 (GRCm39) |
F633S |
probably benign |
Het |
| Skic2 |
A |
G |
17: 35,067,173 (GRCm39) |
S89P |
possibly damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,022,698 (GRCm39) |
E501G |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,303,855 (GRCm39) |
S294P |
probably damaging |
Het |
| Smad3 |
T |
G |
9: 63,664,842 (GRCm39) |
K40Q |
probably damaging |
Het |
| Stt3a |
T |
A |
9: 36,661,008 (GRCm39) |
M268L |
probably benign |
Het |
| Taf4 |
A |
T |
2: 179,566,287 (GRCm39) |
V817E |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,383,835 (GRCm39) |
T58A |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,871 (GRCm39) |
V113A |
probably damaging |
Het |
| Ttll13 |
T |
A |
7: 79,898,024 (GRCm39) |
|
probably null |
Het |
| Uba7 |
T |
C |
9: 107,857,364 (GRCm39) |
L742P |
probably benign |
Het |
| Ulk2 |
A |
G |
11: 61,724,261 (GRCm39) |
L174P |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,688,831 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
A |
11: 23,343,749 (GRCm39) |
|
probably null |
Het |
| Vmn1r71 |
A |
T |
7: 10,481,791 (GRCm39) |
V233D |
possibly damaging |
Het |
| Xpo6 |
T |
C |
7: 125,739,755 (GRCm39) |
K439R |
probably benign |
Het |
| Xrn1 |
G |
T |
9: 95,915,689 (GRCm39) |
G1271C |
probably damaging |
Het |
| Yes1 |
A |
T |
5: 32,818,121 (GRCm39) |
E386V |
probably damaging |
Het |
| Zfp759 |
C |
A |
13: 67,287,408 (GRCm39) |
H320N |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,263,512 (GRCm39) |
H170L |
possibly 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 |
|
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 |
|
R7188:Mybpc2
|
UTSW |
7 |
44,155,617 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- GGGATCTCAACCCAGCAG -3'
(R):5'- CTTCCTGAGTGCCAGCTCC -3'
Sequencing Primer
(F):5'- CCAGCAGGGAGGTATTCTGG -3'
(R):5'- CCTAGCTTACTTGATGAGACCAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation