Incidental Mutation 'R1349:Mybph'
| ID |
254716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mybph
|
| Ensembl Gene |
ENSMUSG00000042451 |
| Gene Name |
myosin binding protein H |
| Synonyms |
|
| MMRRC Submission |
039414-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R1349 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
134121186-134128970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134121353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 38
(S38P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038445]
[ENSMUST00000082060]
[ENSMUST00000153856]
[ENSMUST00000156873]
[ENSMUST00000191577]
|
| AlphaFold |
P70402 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038445
AA Change: S38P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: S38P
| 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 benign
Transcript: ENSMUST00000191577
AA Change: S38P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: S38P
| 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 |
0.0864 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
G |
A |
8: 125,587,992 (GRCm39) |
T36I |
possibly damaging |
Het |
| Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,099,056 (GRCm39) |
I48N |
probably benign |
Het |
| Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,734,564 (GRCm39) |
G613E |
probably damaging |
Het |
| Clspn |
C |
T |
4: 126,457,770 (GRCm39) |
A98V |
probably benign |
Het |
| Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
| Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dbpht2 |
C |
CNNNNNNNNNNNNNNNNNN |
12: 74,345,836 (GRCm39) |
|
noncoding transcript |
Het |
| Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,021,920 (GRCm39) |
N1612Y |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,542 (GRCm39) |
|
probably benign |
Het |
| Glipr1 |
A |
G |
10: 111,829,437 (GRCm39) |
V108A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,307,483 (GRCm39) |
L287P |
possibly damaging |
Het |
| Hp |
T |
G |
8: 110,301,938 (GRCm39) |
K337Q |
probably benign |
Het |
| Htr1a |
T |
A |
13: 105,581,874 (GRCm39) |
C371* |
probably null |
Het |
| Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
| Map4k4 |
C |
A |
1: 40,060,319 (GRCm39) |
P1103Q |
probably damaging |
Het |
| Myo1e |
T |
G |
9: 70,194,351 (GRCm39) |
|
probably benign |
Het |
| Nefh |
T |
TNNNNNNNNNNNNNNNNNN |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
| Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,133,615 (GRCm39) |
G527D |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
| Tgm1 |
A |
G |
14: 55,948,658 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 65,057,919 (GRCm39) |
M1502K |
probably damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,880,887 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
T |
C |
5: 109,234,452 (GRCm39) |
M587V |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
| Wdr35 |
A |
T |
12: 9,069,870 (GRCm39) |
|
probably benign |
Het |
| Wdr73 |
C |
A |
7: 80,543,000 (GRCm39) |
V176L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCTGCCTTTATAAGCATGAACC -3'
(R):5'- ATAGCCTTGAAGCCCCAGTTTGCC -3'
Sequencing Primer
(F):5'- TTATAAGCATGAACCTAGCCTGGAG -3'
(R):5'- GTGGCTCACATCCTCCAAG -3'
|
| Posted On |
2014-12-19 |
Incidental Mutation