Mutagenetix > Incidental Mutations

Incidental Mutation 'R1978:Mybph'

221931

Institutional Source

Beutler Lab

Gene Symbol

Mybph

Ensembl Gene

ENSMUSG00000042451

Gene Name

myosin binding protein H

Synonyms

MMRRC Submission

039991-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134193448-134201232 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134196996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 185 (H185N)

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

probably benign
Transcript: ENSMUST00000038445
AA Change: H185N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: H185N

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

probably benign
Transcript: ENSMUST00000191577
AA Change: H185N

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: H185N

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	probably damaging	Het

Other mutations in Mybph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Mybph	APN	1	134193925	missense	probably benign	0.02
IGL02312:Mybph	APN	1	134197450	missense	probably damaging	0.99
PIT4581001:Mybph	UTSW	1	134194741	missense	probably benign	0.00
R0055:Mybph	UTSW	1	134193852	missense	probably damaging	0.99
R0055:Mybph	UTSW	1	134193852	missense	probably damaging	0.99
R0346:Mybph	UTSW	1	134197754	missense	probably damaging	1.00
R0669:Mybph	UTSW	1	134197343	splice site	probably null
R0765:Mybph	UTSW	1	134197496	missense	possibly damaging	0.78
R1349:Mybph	UTSW	1	134193615	missense	probably benign	0.00
R1662:Mybph	UTSW	1	134193636	missense	probably benign	0.01
R1728:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1729:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1730:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1739:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1762:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1783:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1784:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R1785:Mybph	UTSW	1	134197480	missense	probably benign	0.00
R2058:Mybph	UTSW	1	134200119	missense	probably damaging	1.00
R3115:Mybph	UTSW	1	134194738	missense	probably benign
R4841:Mybph	UTSW	1	134198495	missense	probably damaging	1.00
R4842:Mybph	UTSW	1	134198495	missense	probably damaging	1.00
R5208:Mybph	UTSW	1	134193535	missense	probably benign
R7561:Mybph	UTSW	1	134193727	critical splice donor site	probably null
R7787:Mybph	UTSW	1	134197508	missense	probably benign	0.00
R7997:Mybph	UTSW	1	134194667	missense	probably damaging	1.00
R8673:Mybph	UTSW	1	134198404	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACACTGTACAGTCTCTGACC -3'
(R):5'- ACTGGGAAGTAGAGGCCATTTAC -3'

Sequencing Primer
(F):5'- AGTTCTCAGCTCCCCAAGG -3'
(R):5'- GTAGAGGCCATTTACTTCTAGGTCAC -3'

Posted On

2014-08-25