Mutagenetix > Incidental Mutation

Incidental Mutation 'R1187:Mepe'

102242

Institutional Source

Beutler Lab

Gene Symbol

Mepe

Ensembl Gene

ENSMUSG00000053863

Gene Name

matrix extracellular phosphoglycoprotein with ASARM motif (bone)

Synonyms

OF45

MMRRC Submission

039259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R1187 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104473195-104486477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104486114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 418 (R418H)

Ref Sequence

ENSEMBL: ENSMUSP00000065200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066207]

AlphaFold

Q8K4L6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066207
AA Change: R418H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: R418H

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Osteoregulin	29	192	4.2e-76	PFAM
low complexity region	257	272	N/A	INTRINSIC
low complexity region	426	438	N/A	INTRINSIC

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 89.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene have increased amounts of trabecular bone in their skeleton and undergo less age related bone loss. Otherwise, they display a normal phenotype. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,478,981 (GRCm39)	M4276I	probably benign	Het
Apol7b	A	T	15: 77,307,603 (GRCm39)	F297L	possibly damaging	Het
Capsl	C	T	15: 9,457,807 (GRCm39)	R9W	probably damaging	Het
Catsperb	T	C	12: 101,591,991 (GRCm39)	V1107A	probably benign	Het
Cip2a	T	A	16: 48,820,656 (GRCm39)	N132K	probably damaging	Het
Clca3a1	T	C	3: 144,715,504 (GRCm39)	I544M	probably benign	Het
Cma2	T	C	14: 56,210,280 (GRCm39)	V55A	probably benign	Het
Col10a1	A	T	10: 34,270,834 (GRCm39)	I269F	probably benign	Het
Col26a1	G	A	5: 136,773,020 (GRCm39)	H385Y	probably damaging	Het
Ctdp1	A	G	18: 80,492,702 (GRCm39)	Y598H	probably damaging	Het
Dnajc1	A	G	2: 18,289,520 (GRCm39)	S296P	probably benign	Het
Dvl2	A	T	11: 69,896,962 (GRCm39)	T250S	probably benign	Het
Etv1	A	G	12: 38,915,563 (GRCm39)	Y410C	probably damaging	Het
Krcc1	A	T	6: 71,261,612 (GRCm39)	K215*	probably null	Het
Lrr1	A	T	12: 69,221,796 (GRCm39)	T313S	probably benign	Het
Lrrc7	T	A	3: 157,866,039 (GRCm39)	E1234V	probably damaging	Het
Myrfl	G	A	10: 116,667,447 (GRCm39)	T331I	probably damaging	Het
Nbeal1	T	C	1: 60,233,687 (GRCm39)	W26R	probably damaging	Het
Nsrp1	G	A	11: 76,936,853 (GRCm39)	P448S	probably benign	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Olfml2a	A	G	2: 38,849,825 (GRCm39)	N514D	probably damaging	Het
Or2l5	T	C	16: 19,333,796 (GRCm39)	T197A	probably benign	Het
Or2y17	T	G	11: 49,231,417 (GRCm39)	D19E	probably damaging	Het
Pcdhb1	C	T	18: 37,398,597 (GRCm39)	R183C	probably damaging	Het
Phf14	T	G	6: 11,941,495 (GRCm39)	C41G	probably damaging	Het
Pkhd1l1	T	C	15: 44,361,447 (GRCm39)	V499A	possibly damaging	Het
Plcb4	A	G	2: 135,810,314 (GRCm39)	I638V	probably benign	Het
Ppp4c	T	A	7: 126,385,372 (GRCm39)	I296F	probably benign	Het
Prkdc	T	C	16: 15,577,610 (GRCm39)	V2388A	probably damaging	Het
Rgl1	T	C	1: 152,420,184 (GRCm39)	D353G	probably benign	Het
Rnf19b	T	G	4: 128,969,360 (GRCm39)		probably null	Het
Ryr3	C	T	2: 112,788,521 (GRCm39)	D190N	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3e	G	A	5: 14,282,098 (GRCm39)	M411I	probably damaging	Het
Sgsh	A	T	11: 119,237,404 (GRCm39)	Y403*	probably null	Het
Sh2d7	T	A	9: 54,448,471 (GRCm39)	L164Q	probably benign	Het
Slfn8	A	T	11: 82,894,314 (GRCm39)	V775E	probably damaging	Het
Smgc	G	A	15: 91,744,798 (GRCm39)	G287S	probably damaging	Het
Soat1	T	A	1: 156,261,745 (GRCm39)	Y421F	probably damaging	Het
Sri	T	C	5: 8,109,416 (GRCm39)	Y52H	probably damaging	Het
Stat4	C	A	1: 52,115,836 (GRCm39)	Q259K	probably damaging	Het
Trpm5	A	G	7: 142,628,206 (GRCm39)	L1023P	probably damaging	Het
Ush1c	T	A	7: 45,858,338 (GRCm39)	N650I	probably benign	Het
Vmn2r8	G	T	5: 108,951,085 (GRCm39)	S120*	probably null	Het
Zbed6	G	A	1: 133,586,941 (GRCm39)	T132I	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp629	A	G	7: 127,209,401 (GRCm39)	S803P	probably benign	Het
Zfp629	T	C	7: 127,211,059 (GRCm39)	K250R	probably damaging	Het
Zfp758	T	A	17: 22,594,171 (GRCm39)	I187N	probably benign	Het
Zfp85	T	A	13: 67,897,835 (GRCm39)	K79I	probably damaging	Het

Other mutations in Mepe

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Mepe	APN	5	104,485,843 (GRCm39)	missense	probably damaging	1.00
IGL01896:Mepe	APN	5	104,486,135 (GRCm39)	missense	possibly damaging	0.85
IGL01997:Mepe	APN	5	104,485,466 (GRCm39)	missense	probably damaging	1.00
IGL02311:Mepe	APN	5	104,485,571 (GRCm39)	missense	probably damaging	0.98
IGL02586:Mepe	APN	5	104,485,316 (GRCm39)	missense	probably benign	0.39
F6893:Mepe	UTSW	5	104,485,242 (GRCm39)	missense	possibly damaging	0.87
R1218:Mepe	UTSW	5	104,474,939 (GRCm39)	missense	probably benign
R1633:Mepe	UTSW	5	104,485,540 (GRCm39)	missense	probably benign	0.25
R2024:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2026:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2027:Mepe	UTSW	5	104,474,957 (GRCm39)	missense	possibly damaging	0.72
R2393:Mepe	UTSW	5	104,485,327 (GRCm39)	missense	possibly damaging	0.95
R2920:Mepe	UTSW	5	104,486,113 (GRCm39)	missense	probably damaging	0.99
R3040:Mepe	UTSW	5	104,485,988 (GRCm39)	missense	probably damaging	0.99
R3716:Mepe	UTSW	5	104,485,294 (GRCm39)	missense	probably benign	0.25
R3973:Mepe	UTSW	5	104,484,944 (GRCm39)	missense	probably benign
R3976:Mepe	UTSW	5	104,484,944 (GRCm39)	missense	probably benign
R4894:Mepe	UTSW	5	104,473,268 (GRCm39)	missense	probably damaging	0.98
R5556:Mepe	UTSW	5	104,486,078 (GRCm39)	missense	probably damaging	1.00
R6256:Mepe	UTSW	5	104,484,940 (GRCm39)	missense	probably benign	0.01
R6788:Mepe	UTSW	5	104,486,074 (GRCm39)	nonsense	probably null
R7361:Mepe	UTSW	5	104,485,009 (GRCm39)	missense	probably benign	0.41
R8431:Mepe	UTSW	5	104,486,047 (GRCm39)	missense	possibly damaging	0.91
R8679:Mepe	UTSW	5	104,485,754 (GRCm39)	missense	possibly damaging	0.91
R8745:Mepe	UTSW	5	104,485,525 (GRCm39)	missense	possibly damaging	0.93
R8817:Mepe	UTSW	5	104,485,151 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CCTTGACTGCAAGCCAAAGATTTCC -3'
(R):5'- CCTCTTTGCTGTAGGCGGACTAAC -3'

Sequencing Primer
(F):5'- CCAAAGATTTCCAGGTAAAGGC -3'
(R):5'- CGTATCAAGGCACTTGTGAC -3'

Posted On

2014-01-15