Incidental Mutation 'R8936:Mybpc1'
| ID |
680660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybpc1
|
| Ensembl Gene |
ENSMUSG00000020061 |
| Gene Name |
myosin binding protein C, slow-type |
| Synonyms |
Slow-type C-protein, 8030451F13Rik |
| MMRRC Submission |
068779-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R8936 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88354141-88441014 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88394437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 297
(T297S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119185]
[ENSMUST00000121629]
|
| AlphaFold |
A0A571BEN1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119185
AA Change: T283S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112699
Gene: ENSMUSG00000020061
AA Change: T283S
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
51 |
147 |
1.96e-6 |
SMART |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
IG
|
246 |
325 |
4.53e-2 |
SMART |
|
IG
|
335 |
416 |
1.13e-2 |
SMART |
|
IG
|
426 |
506 |
6.97e-3 |
SMART |
|
IG
|
519 |
604 |
2.83e-3 |
SMART |
|
FN3
|
607 |
690 |
4.28e-10 |
SMART |
|
FN3
|
705 |
788 |
1.49e-9 |
SMART |
|
low complexity region
|
800 |
812 |
N/A |
INTRINSIC |
|
IG
|
815 |
898 |
9.06e-2 |
SMART |
|
FN3
|
901 |
983 |
2.06e-12 |
SMART |
|
IGc2
|
1028 |
1095 |
1.88e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121629
AA Change: T297S
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112615
Gene: ENSMUSG00000020061
AA Change: T297S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
IG
|
65 |
161 |
1.96e-6 |
SMART |
|
low complexity region
|
235 |
247 |
N/A |
INTRINSIC |
|
IG
|
260 |
339 |
4.53e-2 |
SMART |
|
IG
|
349 |
430 |
1.13e-2 |
SMART |
|
IG
|
440 |
520 |
6.97e-3 |
SMART |
|
IG
|
533 |
618 |
2.83e-3 |
SMART |
|
FN3
|
621 |
704 |
4.28e-10 |
SMART |
|
FN3
|
719 |
802 |
1.49e-9 |
SMART |
|
low complexity region
|
814 |
826 |
N/A |
INTRINSIC |
|
IG
|
829 |
912 |
9.06e-2 |
SMART |
|
FN3
|
915 |
997 |
2.06e-12 |
SMART |
|
IGc2
|
1042 |
1109 |
1.88e-8 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,797,101 (GRCm39) |
K491E |
probably benign |
Het |
| Abcd3 |
T |
C |
3: 121,569,117 (GRCm39) |
I374V |
probably benign |
Het |
| Adam34 |
G |
A |
8: 44,104,439 (GRCm39) |
T402I |
probably benign |
Het |
| Angptl7 |
G |
T |
4: 148,581,790 (GRCm39) |
H199N |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,621,840 (GRCm39) |
C671R |
possibly damaging |
Het |
| Anxa7 |
G |
A |
14: 20,521,495 (GRCm39) |
P67L |
unknown |
Het |
| Ap3d1 |
T |
A |
10: 80,547,952 (GRCm39) |
Q913H |
probably benign |
Het |
| Arhgef37 |
A |
G |
18: 61,656,948 (GRCm39) |
I39T |
probably damaging |
Het |
| Armh4 |
G |
A |
14: 50,008,024 (GRCm39) |
T483I |
probably damaging |
Het |
| C3ar1 |
T |
A |
6: 122,828,044 (GRCm39) |
T58S |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,332 (GRCm39) |
L334Q |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,763,882 (GRCm39) |
I216K |
probably damaging |
Het |
| Cdh9 |
T |
A |
15: 16,831,162 (GRCm39) |
|
probably null |
Het |
| Cept1 |
A |
G |
3: 106,411,921 (GRCm39) |
F351S |
possibly damaging |
Het |
| Cfap61 |
A |
G |
2: 145,791,879 (GRCm39) |
D112G |
possibly damaging |
Het |
| Cul9 |
T |
A |
17: 46,839,528 (GRCm39) |
S817C |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,303,195 (GRCm39) |
S1570P |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,754 (GRCm39) |
D206G |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,083,439 (GRCm39) |
R157* |
probably null |
Het |
| Dpp6 |
A |
G |
5: 27,926,140 (GRCm39) |
D738G |
probably damaging |
Het |
| Enpep |
A |
G |
3: 129,125,884 (GRCm39) |
F83L |
possibly damaging |
Het |
| F10 |
G |
T |
8: 13,095,086 (GRCm39) |
W81L |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,095,147 (GRCm39) |
D356G |
probably damaging |
Het |
| Fes |
T |
C |
7: 80,031,473 (GRCm39) |
E467G |
probably damaging |
Het |
| Fignl2 |
A |
T |
15: 100,951,339 (GRCm39) |
D314E |
unknown |
Het |
| Foxh1 |
T |
C |
15: 76,552,719 (GRCm39) |
|
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,109,199 (GRCm39) |
L573P |
probably benign |
Het |
| Gigyf1 |
T |
A |
5: 137,523,469 (GRCm39) |
S934T |
probably damaging |
Het |
| Gm7356 |
C |
T |
17: 14,221,937 (GRCm39) |
V31I |
probably benign |
Het |
| Hoatz |
A |
G |
9: 51,011,298 (GRCm39) |
|
probably null |
Het |
| Hoxa2 |
C |
A |
6: 52,140,517 (GRCm39) |
K156N |
probably damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,857 (GRCm39) |
|
probably benign |
Het |
| Il5ra |
A |
T |
6: 106,692,604 (GRCm39) |
D380E |
possibly damaging |
Het |
| Ino80c |
C |
A |
18: 24,254,865 (GRCm39) |
|
probably benign |
Het |
| Kif18a |
T |
A |
2: 109,163,966 (GRCm39) |
W772R |
probably benign |
Het |
| Lipo3 |
G |
T |
19: 33,557,880 (GRCm39) |
Q171K |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,794,709 (GRCm39) |
T2798S |
probably damaging |
Het |
| Msantd5l |
A |
G |
11: 51,145,249 (GRCm39) |
S113P |
probably damaging |
Het |
| Myh7 |
T |
G |
14: 55,228,440 (GRCm39) |
Q222P |
probably benign |
Het |
| N4bp2l2 |
T |
C |
5: 150,585,362 (GRCm39) |
D206G |
probably benign |
Het |
| Nacc2 |
G |
C |
2: 25,952,216 (GRCm39) |
T380S |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,060,307 (GRCm39) |
|
probably benign |
Het |
| Nkpd1 |
T |
A |
7: 19,255,875 (GRCm39) |
D186E |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,466,863 (GRCm39) |
E581V |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,693,366 (GRCm39) |
N255K |
possibly damaging |
Het |
| Nudt5 |
T |
G |
2: 5,869,228 (GRCm39) |
D151E |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,892,858 (GRCm39) |
L6796Q |
probably benign |
Het |
| Or10p21 |
C |
T |
10: 128,847,802 (GRCm39) |
A216V |
probably benign |
Het |
| Or4k2 |
A |
G |
14: 50,423,999 (GRCm39) |
I225T |
possibly damaging |
Het |
| Oxct2b |
A |
G |
4: 123,010,838 (GRCm39) |
T253A |
probably benign |
Het |
| Patl1 |
G |
A |
19: 11,891,725 (GRCm39) |
C10Y |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,310,427 (GRCm39) |
R1905G |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,402,312 (GRCm39) |
E2228G |
possibly damaging |
Het |
| Plcg1 |
A |
G |
2: 160,589,986 (GRCm39) |
K135E |
probably benign |
Het |
| Proz |
A |
G |
8: 13,115,319 (GRCm39) |
T112A |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,099,199 (GRCm39) |
N1568D |
probably benign |
Het |
| Rbm4 |
A |
G |
19: 4,837,539 (GRCm39) |
V431A |
probably benign |
Het |
| Rgs19 |
G |
T |
2: 181,333,058 (GRCm39) |
C40* |
probably null |
Het |
| Rimbp3 |
T |
A |
16: 17,030,884 (GRCm39) |
I1436K |
probably benign |
Het |
| Rnps1 |
T |
A |
17: 24,641,176 (GRCm39) |
M192K |
probably damaging |
Het |
| Rrad |
C |
T |
8: 105,355,222 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Slc17a9 |
G |
A |
2: 180,380,210 (GRCm39) |
V318I |
probably benign |
Het |
| Slc5a12 |
A |
G |
2: 110,467,455 (GRCm39) |
I412V |
probably damaging |
Het |
| Smc4 |
T |
A |
3: 68,925,491 (GRCm39) |
N329K |
probably benign |
Het |
| St3gal4 |
G |
A |
9: 34,964,723 (GRCm39) |
R165W |
probably damaging |
Het |
| Strbp |
G |
A |
2: 37,493,949 (GRCm39) |
R375* |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,228,367 (GRCm39) |
N1684S |
possibly damaging |
Het |
| Tet1 |
A |
T |
10: 62,676,063 (GRCm39) |
L671* |
probably null |
Het |
| Tex2 |
C |
A |
11: 106,458,144 (GRCm39) |
E429* |
probably null |
Het |
| Tgm4 |
T |
C |
9: 122,869,541 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tmem132d |
C |
T |
5: 127,869,676 (GRCm39) |
D553N |
probably damaging |
Het |
| Tnks |
A |
T |
8: 35,320,501 (GRCm39) |
Y723* |
probably null |
Het |
| Tnks1bp1 |
A |
T |
2: 84,894,320 (GRCm39) |
T1416S |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,904,646 (GRCm39) |
L1137Q |
probably damaging |
Het |
| Tor4a |
A |
C |
2: 25,085,202 (GRCm39) |
C68G |
probably damaging |
Het |
| Tubb2b |
A |
C |
13: 34,312,445 (GRCm39) |
V116G |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,250,827 (GRCm39) |
S99T |
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,083 (GRCm39) |
I261F |
unknown |
Het |
| Vmn1r53 |
T |
C |
6: 90,200,571 (GRCm39) |
Y251C |
probably benign |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,981 (GRCm39) |
R221G |
|
Het |
| Vmn2r88 |
A |
T |
14: 51,655,983 (GRCm39) |
I740F |
possibly damaging |
Het |
| Zfp644 |
C |
T |
5: 106,783,503 (GRCm39) |
G1015R |
probably damaging |
Het |
| Zfy1 |
T |
C |
Y: 738,726 (GRCm39) |
D160G |
unknown |
Het |
| Zscan25 |
T |
A |
5: 145,223,200 (GRCm39) |
V156E |
probably damaging |
Het |
| Zyg11b |
A |
T |
4: 108,109,356 (GRCm39) |
F443I |
|
Het |
|
| Other mutations in Mybpc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Mybpc1
|
APN |
10 |
88,385,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00577:Mybpc1
|
APN |
10 |
88,372,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00703:Mybpc1
|
APN |
10 |
88,360,970 (GRCm39) |
splice site |
probably null |
|
|
IGL00964:Mybpc1
|
APN |
10 |
88,391,604 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01738:Mybpc1
|
APN |
10 |
88,406,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Mybpc1
|
APN |
10 |
88,367,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02255:Mybpc1
|
APN |
10 |
88,372,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Mybpc1
|
APN |
10 |
88,362,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Mybpc1
|
UTSW |
10 |
88,365,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,391,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0240:Mybpc1
|
UTSW |
10 |
88,391,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0449:Mybpc1
|
UTSW |
10 |
88,376,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0879:Mybpc1
|
UTSW |
10 |
88,407,378 (GRCm39) |
splice site |
probably benign |
|
|
R1321:Mybpc1
|
UTSW |
10 |
88,406,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1321:Mybpc1
|
UTSW |
10 |
88,365,403 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1562:Mybpc1
|
UTSW |
10 |
88,389,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1783:Mybpc1
|
UTSW |
10 |
88,406,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Mybpc1
|
UTSW |
10 |
88,389,157 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1962:Mybpc1
|
UTSW |
10 |
88,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Mybpc1
|
UTSW |
10 |
88,387,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2006:Mybpc1
|
UTSW |
10 |
88,381,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2125:Mybpc1
|
UTSW |
10 |
88,409,299 (GRCm39) |
nonsense |
probably null |
|
|
R2129:Mybpc1
|
UTSW |
10 |
88,387,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Mybpc1
|
UTSW |
10 |
88,376,804 (GRCm39) |
splice site |
probably benign |
|
|
R2200:Mybpc1
|
UTSW |
10 |
88,391,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Mybpc1
|
UTSW |
10 |
88,391,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Mybpc1
|
UTSW |
10 |
88,387,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2961:Mybpc1
|
UTSW |
10 |
88,367,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Mybpc1
|
UTSW |
10 |
88,406,521 (GRCm39) |
splice site |
probably null |
|
|
R4032:Mybpc1
|
UTSW |
10 |
88,365,426 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4226:Mybpc1
|
UTSW |
10 |
88,409,387 (GRCm39) |
nonsense |
probably null |
|
|
R4821:Mybpc1
|
UTSW |
10 |
88,384,727 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4876:Mybpc1
|
UTSW |
10 |
88,372,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4876:Mybpc1
|
UTSW |
10 |
88,358,853 (GRCm39) |
missense |
probably benign |
|
|
R4878:Mybpc1
|
UTSW |
10 |
88,387,292 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4910:Mybpc1
|
UTSW |
10 |
88,391,586 (GRCm39) |
nonsense |
probably null |
|
|
R4913:Mybpc1
|
UTSW |
10 |
88,389,116 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4964:Mybpc1
|
UTSW |
10 |
88,391,525 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5023:Mybpc1
|
UTSW |
10 |
88,379,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Mybpc1
|
UTSW |
10 |
88,381,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5196:Mybpc1
|
UTSW |
10 |
88,372,213 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5344:Mybpc1
|
UTSW |
10 |
88,406,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Mybpc1
|
UTSW |
10 |
88,358,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5538:Mybpc1
|
UTSW |
10 |
88,381,891 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5808:Mybpc1
|
UTSW |
10 |
88,406,428 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5970:Mybpc1
|
UTSW |
10 |
88,378,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6324:Mybpc1
|
UTSW |
10 |
88,404,481 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R6433:Mybpc1
|
UTSW |
10 |
88,396,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6441:Mybpc1
|
UTSW |
10 |
88,389,139 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6648:Mybpc1
|
UTSW |
10 |
88,358,861 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6844:Mybpc1
|
UTSW |
10 |
88,372,243 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6931:Mybpc1
|
UTSW |
10 |
88,378,192 (GRCm39) |
nonsense |
probably null |
|
|
R6972:Mybpc1
|
UTSW |
10 |
88,396,223 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6973:Mybpc1
|
UTSW |
10 |
88,396,223 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6978:Mybpc1
|
UTSW |
10 |
88,358,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7007:Mybpc1
|
UTSW |
10 |
88,389,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Mybpc1
|
UTSW |
10 |
88,379,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Mybpc1
|
UTSW |
10 |
88,385,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7442:Mybpc1
|
UTSW |
10 |
88,362,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7577:Mybpc1
|
UTSW |
10 |
88,385,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7660:Mybpc1
|
UTSW |
10 |
88,384,716 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7768:Mybpc1
|
UTSW |
10 |
88,378,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Mybpc1
|
UTSW |
10 |
88,394,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Mybpc1
|
UTSW |
10 |
88,358,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8195:Mybpc1
|
UTSW |
10 |
88,394,553 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8241:Mybpc1
|
UTSW |
10 |
88,372,286 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8360:Mybpc1
|
UTSW |
10 |
88,409,359 (GRCm39) |
nonsense |
probably null |
|
|
R8494:Mybpc1
|
UTSW |
10 |
88,362,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8849:Mybpc1
|
UTSW |
10 |
88,407,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9031:Mybpc1
|
UTSW |
10 |
88,358,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9061:Mybpc1
|
UTSW |
10 |
88,391,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Mybpc1
|
UTSW |
10 |
88,389,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9172:Mybpc1
|
UTSW |
10 |
88,379,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9323:Mybpc1
|
UTSW |
10 |
88,360,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9460:Mybpc1
|
UTSW |
10 |
88,372,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9488:Mybpc1
|
UTSW |
10 |
88,379,624 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9757:Mybpc1
|
UTSW |
10 |
88,372,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Mybpc1
|
UTSW |
10 |
88,406,497 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
Z1176:Mybpc1
|
UTSW |
10 |
88,396,189 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Mybpc1
|
UTSW |
10 |
88,409,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGAAAAGTGATGTCCACC -3'
(R):5'- ACTTGTAGCCTTTGTGTATACCTG -3'
Sequencing Primer
(F):5'- GAAAAGTGATGTCCACCTTTTTCC -3'
(R):5'- GTAGCCTTTGTGTATACCTGTTCTC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation