Mutagenetix > Incidental Mutation

Incidental Mutation 'R2121:Mybphl'

231438

Institutional Source

Beutler Lab

Gene Symbol

Mybphl

Ensembl Gene

ENSMUSG00000068745

Gene Name

myosin binding protein H-like

Synonyms

MMRRC Submission

040125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R2121 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108364911-108380057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108375176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 175 (N175T)

Ref Sequence

ENSEMBL: ENSMUSP00000088051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090563]

AlphaFold

Q5FW53

Predicted Effect

probably damaging
Transcript: ENSMUST00000090563
AA Change: N175T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088051
Gene: ENSMUSG00000068745
AA Change: N175T

Domain	Start	End	E-Value	Type
IG	61	144	4.67e-4	SMART
FN3	147	229	1.62e-10	SMART
IG	268	352	3.68e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142833

Meta Mutation Damage Score

0.5456

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	A	17: 84,671,147	E294D	probably benign	Het
Adnp2	A	G	18: 80,129,170	F675L	probably benign	Het
Akna	G	A	4: 63,376,900	T1024I	probably benign	Het
Ambn	T	A	5: 88,460,758		probably benign	Het
Aox3	T	C	1: 58,152,549		probably benign	Het
Arhgef10	A	G	8: 14,934,820	D200G	probably damaging	Het
Arhgef26	A	T	3: 62,340,283	N263Y	probably damaging	Het
Arpp21	A	G	9: 112,136,670	S375P	probably damaging	Het
Bscl2	G	T	19: 8,839,782	E25*	probably null	Het
Ccl12	T	A	11: 82,101,950	S17R	probably damaging	Het
Cdh1	A	G	8: 106,664,210	I653V	probably benign	Het
Ceacam9	T	A	7: 16,722,003	F12I	probably benign	Het
Cldn23	A	G	8: 35,826,235	V33A	probably benign	Het
Cog1	T	C	11: 113,649,598	L13P	probably damaging	Het
Col20a1	G	C	2: 180,996,456	A346P	probably damaging	Het
Col6a3	T	C	1: 90,810,365	D537G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,514	R423H	probably damaging	Het
Cyp2a12	A	G	7: 27,036,646	*493W	probably null	Het
Dcdc2a	T	G	13: 25,119,285	S266R	possibly damaging	Het
Diaph1	A	T	18: 37,896,389	M330K	unknown	Het
Dnah5	C	T	15: 28,297,005		probably benign	Het
F13a1	T	A	13: 37,025,679	Y104F	probably benign	Het
Fam78b	G	A	1: 167,078,709	V146M	probably damaging	Het
Fancl	G	T	11: 26,459,841		probably benign	Het
Gm10477	A	G	X: 56,524,832	K31E	probably damaging	Het
Gm7173	T	C	X: 79,510,321	I267V	probably benign	Het
Gstm7	T	C	3: 107,926,914	M175V	probably benign	Het
Hcn4	T	C	9: 58,824,058	S183P	unknown	Het
Heatr1	T	C	13: 12,403,264	V359A	probably benign	Het
Ikbkb	T	C	8: 22,667,217		probably benign	Het
Ints6l	T	A	X: 56,504,868	S718T	probably benign	Het
Kctd5	T	C	17: 24,055,966	T212A	probably benign	Het
Kdm3b	T	C	18: 34,796,780		probably benign	Het
Ltbp1	T	A	17: 75,310,159	V1031E	possibly damaging	Het
Lyst	A	G	13: 13,660,971	Y1746C	probably damaging	Het
Mageb5	A	G	X: 91,780,095	I226T	probably damaging	Het
Mdc1	C	T	17: 35,847,943	A405V	probably benign	Het
Mlc1	A	G	15: 88,963,431	Y305H	probably benign	Het
Muc4	A	G	16: 32,760,238	Y2474C	unknown	Het
Ncbp3	T	C	11: 73,053,478	V102A	possibly damaging	Het
Neb	A	G	2: 52,264,064	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,926,444	V766A	probably benign	Het
Olfr1045	T	A	2: 86,197,996	Y252F	possibly damaging	Het
Olfr866	T	G	9: 20,027,501	I146L	probably benign	Het
Palb2	T	C	7: 122,127,781	T289A	possibly damaging	Het
Pde10a	A	T	17: 8,977,215	Q657L	probably damaging	Het
Ppp2r2a	A	T	14: 67,023,128	F234I	probably damaging	Het
Prl3c1	T	A	13: 27,199,342		probably null	Het
Psg20	T	A	7: 18,681,022	Y316F	probably benign	Het
Sap18	T	A	14: 57,798,554	S66T	probably damaging	Het
Serpina3m	A	G	12: 104,389,682	M203V	possibly damaging	Het
Slc6a21	A	T	7: 45,288,462	I726F	probably benign	Het
Soga1	T	C	2: 157,033,325	E835G	probably damaging	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Tfdp2	T	C	9: 96,295,014	S75P	probably damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tll1	T	C	8: 64,085,557	E351G	probably benign	Het
Tmed11	G	A	5: 108,795,332		probably benign	Het
Tmem81	C	A	1: 132,508,109	Q218K	probably benign	Het
Tnfsf11	G	A	14: 78,299,893	T110I	probably benign	Het
Ttc25	T	A	11: 100,567,011		probably null	Het
Tub	G	A	7: 109,026,737	G232S	probably damaging	Het
Vmn2r121	A	T	X: 124,133,742		probably null	Het
Vwa5b1	T	C	4: 138,588,569	T621A	probably benign	Het
Ythdf3	T	C	3: 16,205,192	F501S	possibly damaging	Het

Other mutations in Mybphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03365:Mybphl	APN	3	108364998	start codon destroyed	probably null	0.98
IGL03389:Mybphl	APN	3	108375718	missense	probably benign	0.09
R0194:Mybphl	UTSW	3	108374168	missense	probably benign	0.01
R0206:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R0206:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R0208:Mybphl	UTSW	3	108375415	missense	probably damaging	1.00
R1067:Mybphl	UTSW	3	108365003	missense	probably benign
R1223:Mybphl	UTSW	3	108375196	missense	possibly damaging	0.81
R1748:Mybphl	UTSW	3	108375084	critical splice acceptor site	probably null
R2013:Mybphl	UTSW	3	108375402	missense	probably benign	0.02
R2102:Mybphl	UTSW	3	108375633	missense	possibly damaging	0.82
R2197:Mybphl	UTSW	3	108377319	missense	probably damaging	1.00
R2265:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R2266:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R2267:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R2268:Mybphl	UTSW	3	108365001	missense	probably damaging	1.00
R4551:Mybphl	UTSW	3	108374163	missense	possibly damaging	0.49
R4570:Mybphl	UTSW	3	108365031	missense	possibly damaging	0.61
R4693:Mybphl	UTSW	3	108375178	missense	probably benign	0.01
R5759:Mybphl	UTSW	3	108374754	missense	probably benign	0.30
R7017:Mybphl	UTSW	3	108374838	missense	probably damaging	0.99
R7526:Mybphl	UTSW	3	108374180	missense	probably benign	0.00
R8266:Mybphl	UTSW	3	108377360	missense	probably damaging	1.00
R8976:Mybphl	UTSW	3	108365018	missense	probably damaging	1.00
R9440:Mybphl	UTSW	3	108374886	missense	probably benign	0.19
R9617:Mybphl	UTSW	3	108375636	missense	possibly damaging	0.68
R9655:Mybphl	UTSW	3	108374783	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGCTGAATAGGAGCTATC -3'
(R):5'- TGTGAGACACCTGGGCTTTG -3'

Sequencing Primer
(F):5'- GAGCTATCCCAGAGAGTCTCAG -3'
(R):5'- AGCTGCCAGAAGATCATC -3'

Posted On

2014-09-18