Mutagenetix > Incidental Mutation

Incidental Mutation 'R3716:Mepe'

259909

Institutional Source

Beutler Lab

Gene Symbol

Mepe

Ensembl Gene

ENSMUSG00000053863

Gene Name

matrix extracellular phosphoglycoprotein with ASARM motif (bone)

Synonyms

OF45

Accession Numbers

Essential gene?

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

Stock #

R3716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104473195-104486477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104485294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 145 (H145N)

Ref Sequence

ENSEMBL: ENSMUSP00000065200 (fasta)

Gene Model

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

AlphaFold

Q8K4L6

Predicted Effect

probably benign
Transcript: ENSMUST00000066207
AA Change: H145N

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065200
Gene: ENSMUSG00000053863
AA Change: H145N

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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
9930111J21Rik2	A	T	11: 48,910,363 (GRCm39)	L690H	probably damaging	Het
Abtb3	C	T	10: 85,397,392 (GRCm39)	H442Y	probably damaging	Het
Acaa1b	A	G	9: 118,985,709 (GRCm39)	V72A	probably benign	Het
Actl7a	T	C	4: 56,744,295 (GRCm39)	L274P	possibly damaging	Het
Ankrd50	T	C	3: 38,508,299 (GRCm39)	E433G	probably damaging	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Canx	A	G	11: 50,195,301 (GRCm39)	S256P	probably benign	Het
Caps2	A	G	10: 112,036,637 (GRCm39)	H399R	probably benign	Het
Col6a6	A	C	9: 105,659,373 (GRCm39)	L524R	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dglucy	A	T	12: 100,816,375 (GRCm39)	N339I	probably damaging	Het
Dhrs4	G	T	14: 55,716,362 (GRCm39)	M1I	probably null	Het
Disp1	A	T	1: 182,869,315 (GRCm39)	L1035Q	probably damaging	Het
Ephb1	T	C	9: 102,071,999 (GRCm39)	E260G	probably damaging	Het
Fetub	T	A	16: 22,754,443 (GRCm39)	C217S	probably damaging	Het
Firrm	T	C	1: 163,784,457 (GRCm39)	I779M	probably damaging	Het
Frem2	T	C	3: 53,479,781 (GRCm39)	S1971G	probably damaging	Het
Gria2	A	G	3: 80,648,311 (GRCm39)	Y142H	possibly damaging	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il21r	A	G	7: 125,231,441 (GRCm39)	K290E	probably damaging	Het
Inpp5f	C	G	7: 128,292,394 (GRCm39)	L17V	probably damaging	Het
Kcnh3	A	G	15: 99,130,646 (GRCm39)	N421S	possibly damaging	Het
Krt33a	A	C	11: 99,904,991 (GRCm39)	C172G	probably benign	Het
Lrp6	A	T	6: 134,484,410 (GRCm39)	H404Q	probably damaging	Het
Macf1	T	C	4: 123,367,295 (GRCm39)	T924A	probably benign	Het
Mesp2	T	G	7: 79,462,542 (GRCm39)	L366R	possibly damaging	Het
Mink1	T	A	11: 70,498,587 (GRCm39)	L584Q	probably damaging	Het
Mms19	A	G	19: 41,933,174 (GRCm39)	V997A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Myo15b	G	T	11: 115,754,239 (GRCm39)	C913F	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Nelfcd	T	C	2: 174,264,798 (GRCm39)	V179A	possibly damaging	Het
Obscn	C	T	11: 58,973,487 (GRCm39)	C2157Y	probably damaging	Het
Or8i2	A	T	2: 86,852,707 (GRCm39)	Y60*	probably null	Het
Orc1	C	T	4: 108,471,656 (GRCm39)	A836V	probably damaging	Het
Pcdhb6	G	T	18: 37,469,259 (GRCm39)	V43L	probably benign	Het
Prkcd	G	T	14: 30,321,669 (GRCm39)	D393E	probably benign	Het
Rb1cc1	G	C	1: 6,340,914 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,419,988 (GRCm39)	T375S	probably benign	Het
Slc9c1	A	T	16: 45,400,582 (GRCm39)	M731L	probably benign	Het
Sox21	A	T	14: 118,472,842 (GRCm39)	M69K	probably benign	Het
Spata18	A	T	5: 73,824,193 (GRCm39)		probably null	Het
Taok1	A	G	11: 77,432,636 (GRCm39)	F726L	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Usp32	A	G	11: 84,933,389 (GRCm39)	Y40H	probably damaging	Het
Usp37	A	T	1: 74,532,145 (GRCm39)	S83T	possibly damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	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
R1187:Mepe	UTSW	5	104,486,114 (GRCm39)	missense	probably damaging	0.98
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
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'- GCAGCCTGTAAAGAGTCTAGTG -3'
(R):5'- GCGACTAGTTGAGCTTTCAGG -3'

Sequencing Primer
(F):5'- TAGTGACTGGGGCCGAACTAC -3'
(R):5'- TTGAGCTTTCAGGACCAGAC -3'

Posted On

2015-01-23