Incidental Mutation 'R8187:Mybpc2'
| ID |
634918 |
| 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 |
067610-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44161894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 519
(N519Y)
|
| 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: N519Y
PolyPhen 2
Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: N519Y
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
T |
1: 120,115,913 (GRCm39) |
*122L |
probably null |
Het |
| 4930438A08Rik |
A |
G |
11: 58,180,548 (GRCm39) |
S200G |
|
Het |
| Adgre1 |
T |
A |
17: 57,727,349 (GRCm39) |
S426R |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,732,446 (GRCm39) |
E229G |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef39 |
A |
T |
4: 43,498,999 (GRCm39) |
L84Q |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,111,377 (GRCm39) |
I544V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,803,934 (GRCm39) |
L2079I |
probably damaging |
Het |
| Ccnh |
T |
A |
13: 85,337,656 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,870 (GRCm39) |
N415S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,551 (GRCm39) |
N317D |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,426,556 (GRCm39) |
C665* |
probably null |
Het |
| Csmd1 |
G |
T |
8: 16,177,188 (GRCm39) |
H1358Q |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,854,171 (GRCm39) |
V540A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,942,602 (GRCm39) |
D22G |
unknown |
Het |
| Dhdds |
A |
G |
4: 133,727,679 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,384,355 (GRCm39) |
V3033A |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,044,865 (GRCm39) |
K25R |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,030,396 (GRCm39) |
S110T |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,000 (GRCm39) |
N583S |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,384,767 (GRCm39) |
V578A |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,911 (GRCm39) |
I319L |
probably benign |
Het |
| Gjd3 |
A |
C |
11: 102,691,381 (GRCm39) |
Y207* |
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,532 (GRCm39) |
C404* |
probably null |
Het |
| Gm2832 |
A |
T |
14: 41,000,915 (GRCm39) |
H51L |
|
Het |
| Gpam |
T |
C |
19: 55,066,269 (GRCm39) |
T631A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,864,132 (GRCm39) |
S114P |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,759,933 (GRCm39) |
T353S |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,700 (GRCm39) |
D390G |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,617 (GRCm39) |
L131V |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,266,021 (GRCm39) |
P732T |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,840,896 (GRCm39) |
I135F |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,667,327 (GRCm39) |
V208A |
possibly damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,738,229 (GRCm39) |
N261S |
probably benign |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nr1h5 |
G |
T |
3: 102,861,986 (GRCm39) |
H94Q |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,519 (GRCm39) |
V128A |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,624 (GRCm39) |
S209R |
probably benign |
Het |
| Or6y1 |
TTGTGTG |
TTGTG |
1: 174,276,838 (GRCm39) |
|
probably null |
Het |
| Osmr |
T |
A |
15: 6,850,485 (GRCm39) |
Y707F |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,033 (GRCm39) |
R225L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,191,708 (GRCm39) |
L354Q |
probably damaging |
Het |
| Rev3l |
C |
A |
10: 39,682,693 (GRCm39) |
Q300K |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,292,066 (GRCm39) |
C88S |
unknown |
Het |
| Slc37a4 |
T |
C |
9: 44,311,291 (GRCm39) |
V194A |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,446,999 (GRCm39) |
H242Q |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,200,216 (GRCm39) |
I2804V |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,587,680 (GRCm39) |
F359L |
unknown |
Het |
| Svs5 |
A |
G |
2: 164,079,692 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Tmem158 |
T |
A |
9: 123,088,875 (GRCm39) |
T246S |
unknown |
Het |
| Ttn |
A |
G |
2: 76,633,735 (GRCm39) |
V14038A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,559,790 (GRCm39) |
I29537T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,626,069 (GRCm39) |
S14997P |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,893 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,368,420 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,161,111 (GRCm39) |
Y351* |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,769,918 (GRCm39) |
K104* |
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 |
|
|
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 |
|
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'- AGTCCCCATGAATATGCATCAGC -3'
(R):5'- GACACATGAGGTAGACCCTG -3'
Sequencing Primer
(F):5'- GCTATGACCTCCATAGCA -3'
(R):5'- TAGACCCTGGCCTCACATG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation