Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Mep1b'

22474

Institutional Source

Beutler Lab

Gene Symbol

Mep1b

Ensembl Gene

ENSMUSG00000024313

Gene Name

meprin 1 beta

Synonyms

Mep-1b, meprin beta

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21205401-21233256 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 21228164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082235]

AlphaFold

Q61847

Predicted Effect

probably benign
Transcript: ENSMUST00000082235

SMART Domains

Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	30	42	N/A	INTRINSIC
ZnMc	68	208	1.23e-54	SMART
MAM	261	430	1.91e-52	SMART
MATH	433	569	4.88e-8	SMART
EGF	610	647	2.35e-2	SMART
transmembrane domain	658	680	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	Het

Other mutations in Mep1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Mep1b	APN	18	21,217,243 (GRCm39)	nonsense	probably null
IGL01470:Mep1b	APN	18	21,230,524 (GRCm39)	missense	probably benign	0.26
IGL01866:Mep1b	APN	18	21,228,050 (GRCm39)	missense	probably benign	0.34
IGL02865:Mep1b	APN	18	21,226,441 (GRCm39)	missense	probably benign	0.02
IGL03093:Mep1b	APN	18	21,226,710 (GRCm39)	missense	probably benign	0.01
IGL03126:Mep1b	APN	18	21,221,617 (GRCm39)	missense	probably damaging	1.00
IGL03196:Mep1b	APN	18	21,228,121 (GRCm39)	missense	probably benign	0.01
P0022:Mep1b	UTSW	18	21,221,598 (GRCm39)	splice site	probably benign
R0743:Mep1b	UTSW	18	21,213,515 (GRCm39)	missense	possibly damaging	0.81
R0961:Mep1b	UTSW	18	21,221,786 (GRCm39)	nonsense	probably null
R1913:Mep1b	UTSW	18	21,226,286 (GRCm39)	missense	probably benign	0.21
R2162:Mep1b	UTSW	18	21,219,296 (GRCm39)	missense	possibly damaging	0.82
R2307:Mep1b	UTSW	18	21,221,632 (GRCm39)	missense	probably damaging	1.00
R3000:Mep1b	UTSW	18	21,226,361 (GRCm39)	missense	probably damaging	0.96
R3833:Mep1b	UTSW	18	21,219,296 (GRCm39)	missense	possibly damaging	0.82
R3862:Mep1b	UTSW	18	21,217,226 (GRCm39)	missense	possibly damaging	0.56
R3863:Mep1b	UTSW	18	21,217,226 (GRCm39)	missense	possibly damaging	0.56
R3864:Mep1b	UTSW	18	21,217,226 (GRCm39)	missense	possibly damaging	0.56
R4171:Mep1b	UTSW	18	21,228,163 (GRCm39)	splice site	probably null
R4774:Mep1b	UTSW	18	21,219,241 (GRCm39)	missense	probably benign	0.24
R4798:Mep1b	UTSW	18	21,226,311 (GRCm39)	missense	probably damaging	0.99
R5411:Mep1b	UTSW	18	21,219,306 (GRCm39)	missense	probably damaging	1.00
R6952:Mep1b	UTSW	18	21,221,727 (GRCm39)	missense	probably benign	0.00
R7056:Mep1b	UTSW	18	21,224,247 (GRCm39)	missense	probably damaging	1.00
R7078:Mep1b	UTSW	18	21,233,108 (GRCm39)	missense	probably benign	0.35
R7217:Mep1b	UTSW	18	21,226,600 (GRCm39)	missense	probably benign	0.01
R7641:Mep1b	UTSW	18	21,228,034 (GRCm39)	missense	possibly damaging	0.47
R7843:Mep1b	UTSW	18	21,228,110 (GRCm39)	missense	probably damaging	1.00
R8103:Mep1b	UTSW	18	21,222,442 (GRCm39)	missense	possibly damaging	0.56
R8794:Mep1b	UTSW	18	21,224,325 (GRCm39)	missense	probably damaging	0.96
R8845:Mep1b	UTSW	18	21,230,379 (GRCm39)	nonsense	probably null
R8877:Mep1b	UTSW	18	21,221,630 (GRCm39)	missense	possibly damaging	0.72
R8975:Mep1b	UTSW	18	21,208,714 (GRCm39)	missense	probably benign	0.17
R9352:Mep1b	UTSW	18	21,209,431 (GRCm39)	missense	probably damaging	1.00
R9448:Mep1b	UTSW	18	21,217,199 (GRCm39)	missense	probably damaging	1.00
R9782:Mep1b	UTSW	18	21,208,720 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TGTTGATGATTCCTGCCGAAAGCTG -3'
(R):5'- TCCTGAGCAAGACCACATGCTTCC -3'

Sequencing Primer
(F):5'- GTGATGATGCTCAATCCAGC -3'
(R):5'- AGACCACATGCTTCCTGTGTTAG -3'

Posted On

2013-04-16