Incidental Mutation 'R0055:Mybph'
| ID |
18448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybph
|
| Ensembl Gene |
ENSMUSG00000042451 |
| Gene Name |
myosin binding protein H |
| Synonyms |
|
| MMRRC Submission |
038349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0055 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134121186-134128970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 134121590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 88
(V88L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038445]
[ENSMUST00000082060]
[ENSMUST00000153856]
[ENSMUST00000156873]
[ENSMUST00000191577]
|
| AlphaFold |
P70402 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038445
AA Change: V88L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: V88L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082060
|
| SMART Domains |
Protein: ENSMUSP00000080717
Gene: ENSMUSG00000064246
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Glyco_18
|
30 |
366 |
1.2e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134812
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153856
|
| SMART Domains |
Protein: ENSMUSP00000117117
Gene: ENSMUSG00000064246
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Glyco_18
|
22 |
358 |
1.2e-143 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156873
|
| SMART Domains |
Protein: ENSMUSP00000119205
Gene: ENSMUSG00000064246
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Glyco_18
|
20 |
356 |
1.2e-143 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191577
AA Change: V88L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: V88L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
66 |
N/A |
INTRINSIC |
|
FN3
|
77 |
160 |
4.84e-9 |
SMART |
|
IG
|
187 |
270 |
9.78e-7 |
SMART |
|
FN3
|
273 |
355 |
1.1e-7 |
SMART |
|
IGc2
|
400 |
467 |
1.38e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.4964 |
| Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
| Validation Efficiency |
85% (52/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
| Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
| Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
| Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
| Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
| Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
| Or51ah3 |
A |
G |
7: 103,210,244 (GRCm39) |
K187E |
probably damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
| Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
| Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
| Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
| Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
| Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
| Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
probably damaging |
Het |
|
| Other mutations in Mybph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01960:Mybph
|
APN |
1 |
134,121,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02312:Mybph
|
APN |
1 |
134,125,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4581001:Mybph
|
UTSW |
1 |
134,122,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0055:Mybph
|
UTSW |
1 |
134,121,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0346:Mybph
|
UTSW |
1 |
134,125,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0669:Mybph
|
UTSW |
1 |
134,125,081 (GRCm39) |
splice site |
probably null |
|
|
R0765:Mybph
|
UTSW |
1 |
134,125,234 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1349:Mybph
|
UTSW |
1 |
134,121,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1662:Mybph
|
UTSW |
1 |
134,121,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1728:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1729:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1730:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1739:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1783:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1784:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1785:Mybph
|
UTSW |
1 |
134,125,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1978:Mybph
|
UTSW |
1 |
134,124,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2058:Mybph
|
UTSW |
1 |
134,127,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Mybph
|
UTSW |
1 |
134,122,476 (GRCm39) |
missense |
probably benign |
|
|
R4841:Mybph
|
UTSW |
1 |
134,126,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Mybph
|
UTSW |
1 |
134,126,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Mybph
|
UTSW |
1 |
134,121,273 (GRCm39) |
missense |
probably benign |
|
|
R7561:Mybph
|
UTSW |
1 |
134,121,465 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7787:Mybph
|
UTSW |
1 |
134,125,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7997:Mybph
|
UTSW |
1 |
134,122,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Mybph
|
UTSW |
1 |
134,126,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation