Incidental Mutation 'R6435:Mybpc2'
ID |
518744 |
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 |
044573-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6435 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44155481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 924
(V924A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107927]
[ENSMUST00000165208]
[ENSMUST00000205359]
[ENSMUST00000206398]
|
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: ENSMUST00000107927
|
SMART Domains |
Protein: ENSMUSP00000103560 Gene: ENSMUSG00000051113
Domain | Start | End | E-Value | Type |
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
Pfam:DUF3699
|
91 |
160 |
5.6e-20 |
PFAM |
coiled coil region
|
164 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165208
AA Change: V924A
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130127 Gene: ENSMUSG00000038670 AA Change: V924A
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: ENSMUST00000205359
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205397
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205847
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206195
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206398
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207290
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
100% (32/32) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
T |
2: 31,691,561 (GRCm39) |
T1027S |
possibly damaging |
Het |
Ablim1 |
T |
C |
19: 57,049,787 (GRCm39) |
I159V |
possibly damaging |
Het |
Adcy1 |
A |
G |
11: 7,111,367 (GRCm39) |
N886S |
possibly damaging |
Het |
Baz1b |
G |
A |
5: 135,266,799 (GRCm39) |
D1203N |
probably damaging |
Het |
Chmp2a |
A |
T |
7: 12,766,701 (GRCm39) |
Y72* |
probably null |
Het |
Col6a1 |
A |
T |
10: 76,546,957 (GRCm39) |
I755N |
unknown |
Het |
Defa24 |
T |
A |
8: 22,224,690 (GRCm39) |
F46L |
possibly damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Gcn1 |
A |
T |
5: 115,749,081 (GRCm39) |
|
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,726,478 (GRCm39) |
S628G |
probably benign |
Het |
Hsdl2 |
C |
A |
4: 59,610,668 (GRCm39) |
Q222K |
unknown |
Het |
Ighv1-9 |
T |
A |
12: 114,547,206 (GRCm39) |
I111F |
probably benign |
Het |
Itch |
G |
A |
2: 155,051,049 (GRCm39) |
D579N |
probably benign |
Het |
Jdp2 |
A |
T |
12: 85,655,132 (GRCm39) |
K65M |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,815,556 (GRCm39) |
E222V |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,652,871 (GRCm39) |
V42A |
probably damaging |
Het |
Mecom |
T |
A |
3: 30,034,398 (GRCm39) |
E426V |
probably damaging |
Het |
Meiosin |
T |
C |
7: 18,834,844 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
G |
T |
1: 52,748,603 (GRCm39) |
Y87* |
probably null |
Het |
Naip6 |
A |
T |
13: 100,431,249 (GRCm39) |
M1196K |
probably benign |
Het |
Nscme3l |
T |
C |
19: 5,553,446 (GRCm39) |
I112V |
probably benign |
Het |
Or52n5 |
A |
G |
7: 104,588,041 (GRCm39) |
M103V |
probably damaging |
Het |
Pcdh9 |
G |
A |
14: 94,125,280 (GRCm39) |
P297S |
probably benign |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Rgs21 |
A |
G |
1: 144,395,565 (GRCm39) |
F108L |
probably damaging |
Het |
Runx1 |
A |
T |
16: 92,441,183 (GRCm39) |
S209T |
possibly damaging |
Het |
Sdccag8 |
G |
T |
1: 176,642,428 (GRCm39) |
|
probably benign |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,636,732 (GRCm39) |
D741G |
possibly damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tsc1 |
G |
A |
2: 28,566,464 (GRCm39) |
V627M |
probably benign |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp612 |
A |
G |
8: 110,815,952 (GRCm39) |
I347M |
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 |
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'- TGAGAGTCCCTAAAGCCTGG -3'
(R):5'- TGATGTAGGCAGGTCCTCAGAC -3'
Sequencing Primer
(F):5'- TTTTGACAGTAGCCCAGGC -3'
(R):5'- TCAGACCCTCAGAGCCTAGTCG -3'
|
Posted On |
2018-05-24 |