Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Mybph'

182362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mybph

Ensembl Gene

ENSMUSG00000042451

Gene Name

myosin binding protein H

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

134121186-134128970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134121663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 112 (V112E)

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: V112E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000042195
Gene: ENSMUSG00000042451
AA Change: V112E

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: V112E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141104
Gene: ENSMUSG00000042451
AA Change: V112E

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fam20c	T	C	5: 138,792,075 (GRCm39)	S391P	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	probably benign	Het

Other mutations in Mybph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07