Incidental Mutation 'IGL01625:Mybpc2'
| ID |
92766 |
| 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 # |
IGL01625
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44166337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 218
(K218E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000165208
AA Change: K218E
PolyPhen 2
Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: K218E
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
| Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
| Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
| Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
| Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
| Cdc20b |
T |
C |
13: 113,196,319 (GRCm39) |
L148P |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
| Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
| Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
| Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
| Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
| Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
| Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
| Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
| Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
| Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
| Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
| Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
| Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
| Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
| Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
| Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
| Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
| Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
| Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
| Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
| Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
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 |
|
|
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 |
2013-12-09 |
Incidental Mutation