Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Mepe'

172909

Institutional Source

Beutler Lab

Gene Symbol

Mepe

Ensembl Gene

ENSMUSG00000053863

Gene Name

matrix extracellular phosphoglycoprotein with ASARM motif (bone)

Synonyms

OF45

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

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

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104473195-104486477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104485540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 227 (V227F)

Ref Sequence

ENSEMBL: ENSMUSP00000065200 (fasta)

Gene Model

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

AlphaFold

Q8K4L6

Predicted Effect

probably benign
Transcript: ENSMUST00000066207
AA Change: V227F

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: V227F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,681,592 (GRCm39)	A185V	probably benign	Het
Acsl6	T	C	11: 54,219,224 (GRCm39)		probably benign	Het
Arel1	A	G	12: 84,973,057 (GRCm39)	F580S	probably damaging	Het
Arhgef19	T	C	4: 140,965,871 (GRCm39)		probably benign	Het
Bpifb3	T	A	2: 153,764,504 (GRCm39)	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,525,114 (GRCm39)	D516E	probably damaging	Het
Ccar1	T	C	10: 62,586,793 (GRCm39)	R882G	unknown	Het
Cep162	T	C	9: 87,085,736 (GRCm39)	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,303,018 (GRCm39)	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,166 (GRCm39)	S231T	probably damaging	Het
Dock8	A	G	19: 25,028,927 (GRCm39)	T44A	probably benign	Het
Edrf1	T	C	7: 133,253,869 (GRCm39)	S536P	probably damaging	Het
Eif5	T	A	12: 111,506,721 (GRCm39)	N104K	probably damaging	Het
Enpp3	T	C	10: 24,671,680 (GRCm39)	Y438C	probably damaging	Het
Ess2	A	G	16: 17,727,831 (GRCm39)	V116A	probably benign	Het
Galnt4	T	C	10: 98,945,814 (GRCm39)	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,097,720 (GRCm39)	I172T	probably benign	Het
Ggt7	C	T	2: 155,344,608 (GRCm39)	G245D	probably damaging	Het
Gm5884	A	T	6: 128,623,028 (GRCm39)		noncoding transcript	Het
Herc2	G	A	7: 55,879,117 (GRCm39)	G4669R	probably null	Het
Hydin	T	A	8: 111,233,614 (GRCm39)	D1817E	probably benign	Het
Igf2r	A	C	17: 12,945,196 (GRCm39)	N359K	probably benign	Het
Itgb4	T	C	11: 115,898,586 (GRCm39)	F1722L	probably damaging	Het
Itih3	T	A	14: 30,639,355 (GRCm39)	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,017,444 (GRCm39)	C514*	probably null	Het
Nadk	C	T	4: 155,661,642 (GRCm39)	T56I	probably damaging	Het
Nedd4	G	A	9: 72,578,539 (GRCm39)	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,174,659 (GRCm39)	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,659,766 (GRCm39)	R27G	probably benign	Het
Noc2l	T	A	4: 156,329,750 (GRCm39)	S600T	probably benign	Het
Or1l4b	T	A	2: 37,036,983 (GRCm39)	I253N	probably damaging	Het
Or1o3	T	A	17: 37,574,553 (GRCm39)	M1L	probably benign	Het
Or2c1	A	C	16: 3,657,396 (GRCm39)	K186N	probably damaging	Het
Pax6	A	T	2: 105,522,063 (GRCm39)	E240V	probably damaging	Het
Pdilt	T	G	7: 119,087,217 (GRCm39)	T478P	probably damaging	Het
Phldb1	T	A	9: 44,629,619 (GRCm39)	I25F	probably damaging	Het
Rad50	C	T	11: 53,583,686 (GRCm39)	R365Q	probably benign	Het
Rdh10	A	G	1: 16,198,420 (GRCm39)	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,265,498 (GRCm39)	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964 (GRCm39)	V413A	possibly damaging	Het
Scn8a	A	G	15: 100,927,696 (GRCm39)	I1392V	probably benign	Het
Simc1	G	A	13: 54,673,044 (GRCm39)	G464D	probably benign	Het
Srf	A	T	17: 46,862,534 (GRCm39)	V318E	probably damaging	Het
Stab1	T	C	14: 30,872,337 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,206 (GRCm39)	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,430,986 (GRCm39)		probably benign	Het
Sult2a1	A	G	7: 13,535,351 (GRCm39)	I234T	probably benign	Het
Syne1	A	G	10: 5,299,388 (GRCm39)	F956L	probably damaging	Het
Tasor2	A	T	13: 3,631,771 (GRCm39)	I910N	possibly damaging	Het
Thsd7a	G	T	6: 12,471,103 (GRCm39)	S505*	probably null	Het
Tmem63a	T	A	1: 180,776,391 (GRCm39)	V67E	probably damaging	Het
Tram2	A	T	1: 21,074,146 (GRCm39)	V264E	probably damaging	Het
Trpv5	A	T	6: 41,652,854 (GRCm39)	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,791 (GRCm39)	K385*	probably null	Het
Vezt	T	A	10: 93,820,138 (GRCm39)	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 86,687,042 (GRCm39)	C808R	possibly damaging	Het
Wdfy3	A	C	5: 102,129,414 (GRCm39)	V4G	probably damaging	Het
Wdr95	A	T	5: 149,516,637 (GRCm39)	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,465,473 (GRCm39)	N1877I	probably damaging	Het
Zfp180	A	G	7: 23,804,226 (GRCm39)	D215G	probably benign	Het
Zfp442	A	T	2: 150,250,260 (GRCm39)	Y490*	probably null	Het
Zfp804b	A	G	5: 7,229,513 (GRCm39)		probably benign	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
R1187:Mepe	UTSW	5	104,486,114 (GRCm39)	missense	probably damaging	0.98
R1218:Mepe	UTSW	5	104,474,939 (GRCm39)	missense	probably benign
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'- TTATCTGCTAACCCAGAGCAGCCC -3'
(R):5'- TCCCTGAAATTGGTGCTGCCTGTG -3'

Sequencing Primer
(F):5'- GAAGACTCCCAGTGACCTTG -3'
(R):5'- GCCTGTGATTTCATTGCTGC -3'

Posted On

2014-04-24