Incidental Mutation 'R1559:Mybpc2'
| ID |
170495 |
| 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 |
039598-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1559 (G1)
|
| Quality Score |
158 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44163111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 480
(T480P)
|
| 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: T480P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: T480P
| 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 |
0.1986 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.8%
|
| Validation Efficiency |
95% (73/77) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,349,180 (GRCm39) |
W3585R |
probably null |
Het |
| Ajm1 |
G |
T |
2: 25,467,043 (GRCm39) |
S956* |
probably null |
Het |
| Babam1 |
G |
C |
8: 71,850,424 (GRCm39) |
E18Q |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,519 (GRCm39) |
S394R |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,999,232 (GRCm39) |
F4653L |
probably damaging |
Het |
| Camsap2 |
A |
T |
1: 136,209,832 (GRCm39) |
H559Q |
probably benign |
Het |
| Cars2 |
G |
T |
8: 11,580,430 (GRCm39) |
|
probably null |
Het |
| Ccdc93 |
T |
A |
1: 121,389,712 (GRCm39) |
|
probably benign |
Het |
| Ccna2 |
C |
A |
3: 36,624,879 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,803,037 (GRCm39) |
L326I |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,478 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,976,661 (GRCm39) |
S2423T |
probably benign |
Het |
| Cftr |
A |
G |
6: 18,225,936 (GRCm39) |
M295V |
probably benign |
Het |
| Cxcl2 |
A |
G |
5: 91,051,871 (GRCm39) |
H23R |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,291,181 (GRCm39) |
T370A |
probably damaging |
Het |
| Daam2 |
A |
G |
17: 49,803,148 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,298,276 (GRCm39) |
F607L |
probably damaging |
Het |
| Des |
T |
G |
1: 75,337,230 (GRCm39) |
S57A |
probably benign |
Het |
| Drd1 |
A |
T |
13: 54,206,964 (GRCm39) |
S410T |
probably damaging |
Het |
| Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,082,941 (GRCm39) |
L639P |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,140,463 (GRCm39) |
E395G |
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,601,790 (GRCm39) |
D889G |
probably benign |
Het |
| Heyl |
A |
G |
4: 123,135,192 (GRCm39) |
S62G |
probably damaging |
Het |
| Hmox1 |
C |
T |
8: 75,826,577 (GRCm39) |
P267L |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,394,784 (GRCm39) |
S584A |
probably benign |
Het |
| Il12rb2 |
G |
T |
6: 67,333,576 (GRCm39) |
F234L |
probably benign |
Het |
| Il4i1 |
T |
A |
7: 44,488,811 (GRCm39) |
S233T |
probably damaging |
Het |
| Itga4 |
A |
G |
2: 79,146,032 (GRCm39) |
S745G |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,830,918 (GRCm39) |
I734F |
possibly damaging |
Het |
| Klk1b16 |
T |
C |
7: 43,790,425 (GRCm39) |
I200T |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,461,117 (GRCm39) |
M581K |
probably benign |
Het |
| M6pr |
A |
T |
6: 122,292,033 (GRCm39) |
I122L |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,954,169 (GRCm39) |
|
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,575 (GRCm39) |
S43P |
probably benign |
Het |
| Or1j17 |
A |
G |
2: 36,578,770 (GRCm39) |
Y252C |
probably damaging |
Het |
| Or51ab3 |
A |
T |
7: 103,201,372 (GRCm39) |
I127F |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,437 (GRCm39) |
N175S |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,669,114 (GRCm39) |
I704N |
probably damaging |
Het |
| Pde3a |
G |
T |
6: 141,404,824 (GRCm39) |
A350S |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,107,580 (GRCm39) |
|
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,185,507 (GRCm39) |
Y42F |
unknown |
Het |
| Rsph4a |
T |
A |
10: 33,785,727 (GRCm39) |
V546E |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,458,770 (GRCm39) |
T87A |
probably benign |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,860,693 (GRCm39) |
|
probably null |
Het |
| Slc22a2 |
T |
C |
17: 12,803,298 (GRCm39) |
F44S |
probably damaging |
Het |
| Slco6c1 |
T |
A |
1: 97,026,223 (GRCm39) |
D334V |
probably damaging |
Het |
| Smim19 |
T |
C |
8: 22,953,352 (GRCm39) |
D105G |
probably damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,683,588 (GRCm39) |
T233A |
probably damaging |
Het |
| St8sia5 |
G |
A |
18: 77,299,460 (GRCm39) |
|
probably null |
Het |
| Stk32a |
C |
A |
18: 43,376,149 (GRCm39) |
Q73K |
probably benign |
Het |
| Tmem129 |
G |
T |
5: 33,815,100 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
A |
T |
1: 192,860,599 (GRCm39) |
L441Q |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,731,305 (GRCm39) |
|
probably benign |
Het |
| Unc45b |
T |
C |
11: 82,808,672 (GRCm39) |
S253P |
possibly damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,150 (GRCm39) |
|
probably benign |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,372 (GRCm39) |
M136I |
possibly damaging |
Het |
| Vmn2r51 |
A |
G |
7: 9,836,373 (GRCm39) |
M136T |
possibly damaging |
Het |
| Zfp595 |
T |
C |
13: 67,465,127 (GRCm39) |
I379V |
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 |
|
|
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 |
|
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'- AGATCTTGATGTCCCAACCGACCC -3'
(R):5'- CCATGCACAGTAGGCAGTCAGAAG -3'
Sequencing Primer
(F):5'- CAGACTCAGATTAAAGCAACACTTC -3'
(R):5'- ccagaacagcattcagcac -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation