Mutagenetix > Incidental Mutation

Incidental Mutation 'R0765:Mybph'

72583

Institutional Source

Beutler Lab

Gene Symbol

Mybph

Ensembl Gene

ENSMUSG00000042451

Gene Name

myosin binding protein H

Synonyms

MMRRC Submission

038945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R0765 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134121186-134128970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 134125234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 254 (V254A)

Ref Sequence

ENSEMBL: ENSMUSP00000141104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038191] [ENSMUST00000038445] [ENSMUST00000086465] [ENSMUST00000169927] [ENSMUST00000191577]

AlphaFold

P70402

Predicted Effect

probably benign
Transcript: ENSMUST00000038191

SMART Domains

Protein: ENSMUSP00000043522
Gene: ENSMUSG00000042429

Domain	Start	End	E-Value	Type
Pfam:7tm_4	17	305	1.1e-10	PFAM
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	9.8e-52	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038445
AA Change: V254A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: V254A

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: ENSMUST00000086465

SMART Domains

Protein: ENSMUSP00000083656
Gene: ENSMUSG00000042429

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	1.9e-63	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169927

SMART Domains

Protein: ENSMUSP00000132105
Gene: ENSMUSG00000042429

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	20	303	5e-14	PFAM
Pfam:7tm_1	26	288	1.9e-63	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191577
AA Change: V254A

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: V254A

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

0.1281

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16a	T	A	17: 35,320,827 (GRCm39)	V425D	probably benign	Het
Ano9	T	G	7: 140,687,097 (GRCm39)	I381L	probably damaging	Het
Apob	C	T	12: 8,066,518 (GRCm39)	L4496F	probably benign	Het
Arhgef38	C	T	3: 132,822,344 (GRCm39)	E724K	probably damaging	Het
Atp8b4	T	A	2: 126,214,070 (GRCm39)		probably null	Het
Baiap2l1	G	T	5: 144,214,513 (GRCm39)	P394T	probably damaging	Het
Btbd8	T	A	5: 107,654,800 (GRCm39)	D354E	probably benign	Het
Cnbp	C	A	6: 87,822,155 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,375,811 (GRCm39)		probably benign	Het
Colq	T	G	14: 31,247,994 (GRCm39)	D408A	possibly damaging	Het
Cuzd1	A	T	7: 130,917,824 (GRCm39)	S259T	probably benign	Het
Cyp3a57	A	G	5: 145,327,220 (GRCm39)		probably benign	Het
Dbn1	C	A	13: 55,630,107 (GRCm39)	V112F	probably damaging	Het
Dcc	T	A	18: 71,496,061 (GRCm39)	D1028V	probably damaging	Het
Dnajb11	T	C	16: 22,681,318 (GRCm39)	V32A	probably damaging	Het
Dsg4	G	A	18: 20,587,703 (GRCm39)		probably benign	Het
Dyrk1b	C	T	7: 27,885,136 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,759,987 (GRCm39)	M208K	probably damaging	Het
Efhc1	A	G	1: 21,048,876 (GRCm39)	I430V	probably benign	Het
Elovl2	T	C	13: 41,340,942 (GRCm39)	Y181C	probably benign	Het
Fras1	A	G	5: 96,700,655 (GRCm39)	Q225R	probably benign	Het
Frmd3	G	A	4: 74,080,004 (GRCm39)	R332Q	probably damaging	Het
Glg1	A	G	8: 111,886,429 (GRCm39)		probably null	Het
Hmcn1	G	A	1: 150,684,538 (GRCm39)	T344M	probably damaging	Het
Il1rap	T	G	16: 26,529,382 (GRCm39)		probably null	Het
Klra1	A	T	6: 130,356,055 (GRCm39)		probably benign	Het
Larp7	C	A	3: 127,339,814 (GRCm39)	K289N	probably damaging	Het
Lgr6	C	A	1: 134,921,624 (GRCm39)	G240V	probably benign	Het
Lrp10	G	T	14: 54,705,547 (GRCm39)	D246Y	probably damaging	Het
Map3k20	G	A	2: 72,202,269 (GRCm39)	V167I	probably damaging	Het
Med23	T	C	10: 24,776,608 (GRCm39)	S347P	probably damaging	Het
Ndufv2	A	G	17: 66,408,073 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,350,505 (GRCm39)		probably benign	Het
Nup210l	T	C	3: 90,027,184 (GRCm39)	Y189H	probably damaging	Het
Or4c52	G	A	2: 89,846,014 (GRCm39)	V247I	probably benign	Het
Or51t4	C	T	7: 102,597,939 (GRCm39)	T79I	probably damaging	Het
Or5m13	T	C	2: 85,749,049 (GRCm39)	L260P	probably damaging	Het
Pdgfra	C	A	5: 75,348,648 (GRCm39)		probably benign	Het
Phlpp1	T	C	1: 106,320,013 (GRCm39)	L1336P	probably damaging	Het
Prpf38b	T	C	3: 108,818,734 (GRCm39)	T9A	possibly damaging	Het
Rnf213	G	A	11: 119,313,921 (GRCm39)		probably null	Het
Saal1	A	T	7: 46,349,071 (GRCm39)	V281E	possibly damaging	Het
Slc17a3	C	T	13: 24,030,879 (GRCm39)	Q186*	probably null	Het
Slc6a2	A	G	8: 93,715,659 (GRCm39)	T266A	probably damaging	Het
Snai2	T	C	16: 14,524,668 (GRCm39)	V58A	possibly damaging	Het
Srfbp1	T	C	18: 52,623,507 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,446,706 (GRCm39)	P365S	possibly damaging	Het
Tmem127	C	A	2: 127,099,069 (GRCm39)	T201K	probably damaging	Het
Trim17	T	G	11: 58,862,195 (GRCm39)	V409G	possibly damaging	Het
Trim43c	C	T	9: 88,723,969 (GRCm39)	T165I	probably benign	Het
Ush2a	C	A	1: 188,680,771 (GRCm39)	F4916L	possibly damaging	Het
Vmn1r89	A	G	7: 12,953,467 (GRCm39)	M68V	probably benign	Het
Vmn2r105	C	T	17: 20,447,973 (GRCm39)	E284K	probably benign	Het
Vmn2r105	T	C	17: 20,448,119 (GRCm39)	D235G	probably damaging	Het
Vmn2r-ps134	C	T	17: 23,665,015 (GRCm39)		noncoding transcript	Het
Zdbf2	G	A	1: 63,344,882 (GRCm39)	S1087N	possibly damaging	Het
Zfp534	G	A	4: 147,758,693 (GRCm39)	P659S	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
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

Predicted Primers

PCR Primer
(F):5'- GGTCACACACTAAAGGACATGGCTC -3'
(R):5'- ACATCCAGTAGCTTGATGCTGCTC -3'

Sequencing Primer
(F):5'- CTAAAGGACATGGCTCTGGTC -3'
(R):5'- TAGGTCTGCGGCAAAGTCTC -3'

Posted On

2013-09-30