Incidental Mutation 'R5426:Mybpc2'
ID |
426884 |
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 |
042992-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5426 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44159253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 599
(V599A)
|
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: V599A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130127 Gene: ENSMUSG00000038670 AA Change: V599A
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
|
Meta Mutation Damage Score |
0.1060 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
97% (85/88) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,633 (GRCm39) |
H122L |
probably damaging |
Het |
9330182O14Rik |
G |
A |
15: 40,011,932 (GRCm39) |
M90I |
unknown |
Het |
9330182O14Rik |
G |
A |
15: 40,011,933 (GRCm39) |
D91N |
unknown |
Het |
Abca13 |
T |
A |
11: 9,240,722 (GRCm39) |
S862T |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adgb |
C |
A |
10: 10,226,004 (GRCm39) |
A1405S |
probably benign |
Het |
Adpgk |
T |
A |
9: 59,204,832 (GRCm39) |
V86E |
probably damaging |
Het |
Agfg2 |
G |
C |
5: 137,666,020 (GRCm39) |
P80A |
probably damaging |
Het |
Akap11 |
G |
A |
14: 78,736,304 (GRCm39) |
Q1829* |
probably null |
Het |
Aldh1l1 |
G |
A |
6: 90,536,281 (GRCm39) |
R62Q |
probably benign |
Het |
Amd1 |
G |
T |
10: 40,166,183 (GRCm39) |
D265E |
probably damaging |
Het |
Aox4 |
A |
T |
1: 58,259,253 (GRCm39) |
Q106L |
probably damaging |
Het |
Arap2 |
A |
T |
5: 62,800,159 (GRCm39) |
N1289K |
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,897,880 (GRCm39) |
S874G |
probably damaging |
Het |
Ccdc166 |
T |
C |
15: 75,853,945 (GRCm39) |
Q45R |
possibly damaging |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdk14 |
A |
G |
5: 4,938,975 (GRCm39) |
S388P |
possibly damaging |
Het |
Chgb |
A |
T |
2: 132,635,453 (GRCm39) |
Q465L |
possibly damaging |
Het |
Commd9 |
T |
A |
2: 101,729,220 (GRCm39) |
W109R |
probably damaging |
Het |
Cspg4b |
G |
A |
13: 113,505,587 (GRCm39) |
V2239I |
probably benign |
Het |
Cyp2b9 |
T |
C |
7: 25,887,080 (GRCm39) |
V163A |
probably benign |
Het |
Dcpp2 |
T |
A |
17: 24,118,287 (GRCm39) |
H27Q |
possibly damaging |
Het |
Ddn |
T |
A |
15: 98,704,347 (GRCm39) |
E315V |
possibly damaging |
Het |
Defb29 |
C |
A |
2: 152,380,868 (GRCm39) |
C47F |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,281,366 (GRCm39) |
M2809T |
possibly damaging |
Het |
Dock4 |
A |
T |
12: 40,795,744 (GRCm39) |
I854F |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,591,541 (GRCm39) |
Y427H |
probably damaging |
Het |
E130114P18Rik |
C |
T |
4: 97,578,907 (GRCm39) |
A23T |
unknown |
Het |
Flacc1 |
T |
A |
1: 58,706,045 (GRCm39) |
K275* |
probably null |
Het |
Gemin5 |
A |
G |
11: 58,016,113 (GRCm39) |
S1297P |
probably benign |
Het |
Gm10309 |
A |
C |
17: 86,806,161 (GRCm39) |
|
probably benign |
Het |
Gpatch11 |
T |
A |
17: 79,148,663 (GRCm39) |
S155R |
possibly damaging |
Het |
Grin2b |
C |
A |
6: 135,709,366 (GRCm39) |
Q1393H |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,081,142 (GRCm39) |
C1370Y |
probably damaging |
Het |
Hmcn2 |
C |
T |
2: 31,226,556 (GRCm39) |
T177I |
possibly damaging |
Het |
Ildr1 |
A |
T |
16: 36,529,981 (GRCm39) |
I123F |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,083,023 (GRCm39) |
V644D |
probably damaging |
Het |
Kifap3 |
A |
G |
1: 163,607,440 (GRCm39) |
M1V |
probably null |
Het |
Klhl11 |
A |
G |
11: 100,354,942 (GRCm39) |
L293P |
probably damaging |
Het |
Klrc3 |
G |
A |
6: 129,618,513 (GRCm39) |
S98L |
probably benign |
Het |
Lrrc37 |
A |
T |
11: 103,511,586 (GRCm39) |
H127Q |
unknown |
Het |
Med12l |
G |
A |
3: 59,156,143 (GRCm39) |
M1220I |
probably damaging |
Het |
Ms4a7 |
C |
T |
19: 11,303,166 (GRCm39) |
|
probably null |
Het |
Naalad2 |
T |
C |
9: 18,258,815 (GRCm39) |
N487D |
probably benign |
Het |
Nat8f7 |
T |
G |
6: 85,684,805 (GRCm39) |
S12R |
probably benign |
Het |
Nefm |
T |
A |
14: 68,357,515 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
T |
C |
7: 23,117,626 (GRCm39) |
V450A |
probably damaging |
Het |
Nps |
G |
A |
7: 134,870,376 (GRCm39) |
|
probably null |
Het |
Or13c7d |
A |
G |
4: 43,770,168 (GRCm39) |
I281T |
probably benign |
Het |
Or2ag16 |
C |
A |
7: 106,351,773 (GRCm39) |
S274I |
probably benign |
Het |
Or4a74 |
T |
C |
2: 89,440,083 (GRCm39) |
Y121C |
probably damaging |
Het |
Or4b13 |
T |
A |
2: 90,082,955 (GRCm39) |
K126* |
probably null |
Het |
Or5e1 |
T |
C |
7: 108,354,924 (GRCm39) |
L287P |
possibly damaging |
Het |
Or5h24 |
G |
T |
16: 58,918,665 (GRCm39) |
P230Q |
possibly damaging |
Het |
Or5p67 |
T |
C |
7: 107,922,017 (GRCm39) |
N289D |
probably damaging |
Het |
Oxct2a |
C |
A |
4: 123,216,506 (GRCm39) |
G292W |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,547,647 (GRCm39) |
|
probably benign |
Het |
Prr27 |
T |
C |
5: 87,998,744 (GRCm39) |
|
probably benign |
Het |
Ptx3 |
T |
C |
3: 66,128,143 (GRCm39) |
M68T |
probably damaging |
Het |
Rufy1 |
A |
G |
11: 50,312,561 (GRCm39) |
L131S |
probably damaging |
Het |
Septin7 |
T |
A |
9: 25,197,986 (GRCm39) |
I100N |
possibly damaging |
Het |
Sgms2 |
T |
C |
3: 131,135,446 (GRCm39) |
I143V |
probably benign |
Het |
Slc25a34 |
A |
G |
4: 141,350,877 (GRCm39) |
V44A |
probably damaging |
Het |
Slc28a3 |
T |
A |
13: 58,710,968 (GRCm39) |
D518V |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,136,308 (GRCm39) |
|
probably null |
Het |
Slco4a1 |
C |
A |
2: 180,113,028 (GRCm39) |
A420D |
possibly damaging |
Het |
Smap1 |
T |
C |
1: 23,888,471 (GRCm39) |
T180A |
probably benign |
Het |
Specc1l |
T |
C |
10: 75,103,384 (GRCm39) |
S920P |
probably benign |
Het |
Tgtp2 |
A |
G |
11: 48,950,083 (GRCm39) |
M163T |
probably benign |
Het |
Tiam1 |
G |
T |
16: 89,662,280 (GRCm39) |
Q613K |
possibly damaging |
Het |
Vsig10l |
T |
A |
7: 43,114,247 (GRCm39) |
S190T |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,154,752 (GRCm39) |
Y512C |
probably damaging |
Het |
Wdfy3 |
T |
A |
5: 102,067,312 (GRCm39) |
N1207Y |
probably damaging |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Wdr70 |
A |
G |
15: 7,951,586 (GRCm39) |
L417S |
possibly damaging |
Het |
Wdr81 |
A |
C |
11: 75,341,722 (GRCm39) |
S1182A |
possibly damaging |
Het |
Zfp458 |
A |
T |
13: 67,405,256 (GRCm39) |
C391* |
probably null |
Het |
Zfp638 |
A |
G |
6: 83,953,396 (GRCm39) |
E1167G |
probably damaging |
Het |
Zfp763 |
T |
A |
17: 33,238,569 (GRCm39) |
D192V |
probably benign |
Het |
Zfp853 |
T |
G |
5: 143,274,624 (GRCm39) |
Q332P |
unknown |
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 |
|
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'- ACAGCCTCTGGAGGATCAGG -3'
(R):5'- AGTCGGGGTGAGTCCAGAAC -3'
Sequencing Primer
(F):5'- CTCTGGAGGATCAGGAACATCTG -3'
(R):5'- GTCCAGAACTCATATATATGTGGCC -3'
|
Posted On |
2016-09-01 |