Incidental Mutation 'IGL01099:Mybpc2'
| ID |
51530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mybpc2
|
| Ensembl Gene |
ENSMUSG00000038670 |
| Gene Name |
myosin binding protein C, fast-type |
| Synonyms |
Fast-type C-protein |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44165591 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 330
(C330R)
|
| 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: C330R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: C330R
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
| Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
| Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
| Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
| F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,517,966 (GRCm39) |
I607V |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
| Glod4 |
T |
A |
11: 76,130,376 (GRCm39) |
K36* |
probably null |
Het |
| Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
| Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
| Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
| Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
| Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
| Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,885,190 (GRCm39) |
H436L |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
| Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
| Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
T |
12: 99,881,704 (GRCm39) |
|
probably benign |
Het |
| Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
| Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,854,686 (GRCm39) |
S689P |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
| Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
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 |
|
|
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 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation