Incidental Mutation 'R5498:Mybpc2'
| ID |
501133 |
| 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 |
043059-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5498 (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 44165689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 297
(Y297C)
|
| 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: Y297C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: Y297C
| 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 |
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 94.8%
- 20x: 89.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
T |
A |
5: 109,885,413 (GRCm39) |
K148N |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,099,670 (GRCm39) |
D959V |
possibly damaging |
Het |
| Acot12 |
T |
C |
13: 91,929,352 (GRCm39) |
V393A |
probably damaging |
Het |
| Ano3 |
C |
A |
2: 110,527,448 (GRCm39) |
V587F |
possibly damaging |
Het |
| Bub1 |
T |
C |
2: 127,656,629 (GRCm39) |
D471G |
possibly damaging |
Het |
| Cdh15 |
G |
T |
8: 123,591,917 (GRCm39) |
V601F |
possibly damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,483,983 (GRCm39) |
I706N |
possibly damaging |
Het |
| Fbn1 |
A |
G |
2: 125,202,096 (GRCm39) |
I1259T |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,041,542 (GRCm39) |
W539R |
probably damaging |
Het |
| Hivep1 |
A |
T |
13: 42,276,634 (GRCm39) |
|
probably null |
Het |
| Igkv3-9 |
A |
G |
6: 70,565,727 (GRCm39) |
M109V |
probably benign |
Het |
| Klf10 |
G |
A |
15: 38,296,283 (GRCm39) |
R421W |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,624,821 (GRCm39) |
Y2144F |
possibly damaging |
Het |
| Myom2 |
G |
A |
8: 15,179,142 (GRCm39) |
E1325K |
probably benign |
Het |
| Nsd1 |
A |
T |
13: 55,361,115 (GRCm39) |
K28* |
probably null |
Het |
| Or2r11 |
C |
T |
6: 42,437,228 (GRCm39) |
A242T |
probably benign |
Het |
| Or51b4 |
T |
G |
7: 103,530,839 (GRCm39) |
T204P |
probably damaging |
Het |
| Phc2 |
C |
A |
4: 128,602,787 (GRCm39) |
N120K |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,504 (GRCm39) |
T274A |
possibly damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,092 (GRCm39) |
I786N |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,061,654 (GRCm39) |
S2626L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,104,418 (GRCm39) |
L819P |
probably damaging |
Het |
| Ppp2r3d |
T |
C |
9: 124,439,123 (GRCm38) |
|
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,229,738 (GRCm39) |
D928G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnpc3 |
A |
G |
3: 113,404,856 (GRCm39) |
|
probably null |
Het |
| Sarnp |
T |
A |
10: 128,689,063 (GRCm39) |
D65E |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc16a10 |
C |
T |
10: 39,913,323 (GRCm39) |
V462M |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slfn5 |
A |
T |
11: 82,847,973 (GRCm39) |
H286L |
possibly damaging |
Het |
| Spag17 |
G |
A |
3: 100,010,661 (GRCm39) |
A2052T |
possibly damaging |
Het |
| Sptbn5 |
A |
T |
2: 119,907,119 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Trim45 |
T |
C |
3: 100,832,457 (GRCm39) |
V230A |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,556,635 (GRCm39) |
F989L |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,043,535 (GRCm39) |
H119R |
probably damaging |
Het |
| Yars2 |
T |
A |
16: 16,124,387 (GRCm39) |
H331Q |
possibly damaging |
Het |
| Zscan21 |
T |
C |
5: 138,131,522 (GRCm39) |
S349P |
probably benign |
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 |
|
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'- AGAAAGCCAGCAGTTTCAGAAC -3'
(R):5'- GAGATCAGTGACCCAGACCTTC -3'
Sequencing Primer
(F):5'- AGCAGTTTCAGAACCCACTC -3'
(R):5'- CCTCTCAAGTGGTTCAAGAATGGC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation