Incidental Mutation 'R8179:Mybpc2'
| ID |
634546 |
| 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 |
067604-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44151123-44174080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44159254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 599
(V599L)
|
| 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: V599L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130127
Gene: ENSMUSG00000038670
AA Change: V599L
| 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: 99.7%
- 20x: 99.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,136,100 (GRCm39) |
Y170H |
probably damaging |
Het |
| Ace3 |
G |
T |
11: 105,895,383 (GRCm39) |
V602L |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,560,050 (GRCm39) |
Q201R |
probably benign |
Het |
| Aldh18a1 |
A |
C |
19: 40,545,952 (GRCm39) |
C612G |
probably damaging |
Het |
| Ankrd40 |
G |
A |
11: 94,225,541 (GRCm39) |
A191T |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,137,117 (GRCm39) |
D1169G |
probably damaging |
Het |
| Arfgap2 |
T |
C |
2: 91,105,668 (GRCm39) |
F505L |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,776 (GRCm39) |
F423L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,968 (GRCm39) |
M628T |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,643,939 (GRCm39) |
L1004* |
probably null |
Het |
| Cc2d2a |
T |
A |
5: 43,857,295 (GRCm39) |
L494Q |
probably damaging |
Het |
| Cd180 |
T |
C |
13: 102,842,141 (GRCm39) |
S396P |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,270,368 (GRCm39) |
I59T |
possibly damaging |
Het |
| Cfap54 |
G |
T |
10: 92,833,178 (GRCm39) |
F1149L |
possibly damaging |
Het |
| Chp1 |
C |
T |
2: 119,378,253 (GRCm39) |
|
probably benign |
Het |
| Clmp |
T |
C |
9: 40,692,475 (GRCm39) |
F248S |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,915,050 (GRCm39) |
I237K |
probably benign |
Het |
| Dcaf1 |
G |
T |
9: 106,735,115 (GRCm39) |
V688L |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,765,167 (GRCm39) |
M812K |
probably benign |
Het |
| Disc1 |
C |
T |
8: 125,814,316 (GRCm39) |
P60L |
probably benign |
Het |
| Disp2 |
C |
G |
2: 118,623,030 (GRCm39) |
P1254R |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,842,284 (GRCm39) |
I4432F |
possibly damaging |
Het |
| Dnajc15 |
A |
T |
14: 78,090,393 (GRCm39) |
I58N |
|
Het |
| Elovl5 |
A |
G |
9: 77,884,181 (GRCm39) |
N159S |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,885,099 (GRCm39) |
V71A |
probably benign |
Het |
| Frs2 |
A |
T |
10: 116,912,791 (GRCm39) |
H167Q |
probably damaging |
Het |
| Gm4553 |
A |
T |
7: 141,718,594 (GRCm39) |
V278E |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,507,452 (GRCm39) |
Y416* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,598,265 (GRCm39) |
V1679E |
probably benign |
Het |
| Igkv18-36 |
T |
C |
6: 69,969,479 (GRCm39) |
Y105C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,134 (GRCm39) |
D491G |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,885,581 (GRCm39) |
I1445M |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,575,964 (GRCm39) |
Q20L |
probably damaging |
Het |
| Mgat5b |
A |
G |
11: 116,822,554 (GRCm39) |
E96G |
probably benign |
Het |
| Mmp16 |
T |
A |
4: 17,853,854 (GRCm39) |
|
probably null |
Het |
| Mogat1 |
A |
G |
1: 78,504,255 (GRCm39) |
D176G |
possibly damaging |
Het |
| Mre11a |
T |
A |
9: 14,708,362 (GRCm39) |
D142E |
probably null |
Het |
| Myot |
A |
T |
18: 44,487,197 (GRCm39) |
R345* |
probably null |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or10z1 |
T |
G |
1: 174,078,130 (GRCm39) |
D121A |
possibly damaging |
Het |
| Or8g53 |
C |
T |
9: 39,683,200 (GRCm39) |
V299I |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,003 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,836,493 (GRCm39) |
Y255C |
unknown |
Het |
| Plppr4 |
A |
G |
3: 117,125,327 (GRCm39) |
S171P |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,172,095 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
T |
C |
5: 95,667,753 (GRCm39) |
V111A |
probably benign |
Het |
| Rapgef3 |
A |
T |
15: 97,658,621 (GRCm39) |
H170Q |
probably benign |
Het |
| Rnf10 |
ACCTCATCTCGTC |
AC |
5: 115,398,176 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,336 (GRCm39) |
Y501C |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,072,196 (GRCm39) |
I346T |
probably damaging |
Het |
| Sema3g |
A |
G |
14: 30,942,542 (GRCm39) |
I48V |
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,073,792 (GRCm39) |
S285R |
possibly damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,222,567 (GRCm39) |
G521S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,554,903 (GRCm39) |
N912D |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,523 (GRCm39) |
V128A |
unknown |
Het |
| Trpc7 |
T |
A |
13: 57,035,693 (GRCm39) |
N80I |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,031,824 (GRCm39) |
H1031Y |
probably benign |
Het |
| Tubg2 |
A |
T |
11: 101,051,082 (GRCm39) |
I235F |
probably benign |
Het |
| Ube2q2l |
A |
G |
6: 136,378,240 (GRCm39) |
S197P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,915,484 (GRCm39) |
Y489N |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,366,018 (GRCm39) |
C305* |
probably null |
Het |
| Vmn2r86 |
G |
A |
10: 130,288,953 (GRCm39) |
H183Y |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,396,016 (GRCm39) |
V603A |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
| Zfp112 |
C |
T |
7: 23,825,063 (GRCm39) |
P348S |
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 |
|
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 |
|
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'- GACAGCCTCTGGAGGATCAG -3'
(R):5'- AGTCGGGGTGAGTCCAGAAC -3'
Sequencing Primer
(F):5'- CTCTGGAGGATCAGGAACATCTG -3'
(R):5'- GTCCAGAACTCATATATATGTGGCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation