Mutagenetix > Incidental Mutation

Incidental Mutation 'R0330:Mep1a'

65199

Institutional Source

Beutler Lab

Gene Symbol

Mep1a

Ensembl Gene

ENSMUSG00000023914

Gene Name

meprin 1 alpha

Synonyms

Mep-1a, meprin A alpha-subunit, Mep1, meprin alpha, Mep-1

MMRRC Submission

038539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0330 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 43497898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024707] [ENSMUST00000117137]

AlphaFold

P28825

Predicted Effect

probably null
Transcript: ENSMUST00000024707

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
ZnMc	83	222	1.16e-41	SMART
MAM	276	445	5.38e-61	SMART
MATH	445	590	6.9e-17	SMART
EGF	687	724	1.35e-2	SMART
transmembrane domain	727	749	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117137

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
ZnMc	70	209	1.16e-41	SMART
MAM	263	432	5.38e-61	SMART
MATH	432	577	6.9e-17	SMART
EGF	674	711	1.35e-2	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152155

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,883,631	I400F	probably benign	Het
4833423E24Rik	T	A	2: 85,518,551	R72S	probably benign	Het
Acaa1b	T	C	9: 119,153,970	N120S	probably damaging	Het
Acvr1c	T	C	2: 58,284,838	T313A	probably damaging	Het
Adamtsl3	A	T	7: 82,521,990	D417V	probably damaging	Het
Adgrf4	A	T	17: 42,667,313	C380S	probably damaging	Het
AI597479	T	G	1: 43,111,117	L129R	probably benign	Het
AI661453	G	A	17: 47,446,646	R76Q	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Anxa7	A	C	14: 20,469,498		probably null	Het
Arhgap12	T	A	18: 6,039,382	D455V	probably damaging	Het
Arhgap22	A	G	14: 33,369,417	R650G	possibly damaging	Het
Arhgef12	A	C	9: 43,020,686	H168Q	probably damaging	Het
Arhgef2	A	G	3: 88,642,501	H592R	probably damaging	Het
BC049715	A	G	6: 136,840,037	T92A	possibly damaging	Het
Bcr	C	T	10: 75,181,634	T1209I	possibly damaging	Het
Bmpr1a	C	T	14: 34,429,777	S185N	probably benign	Het
Calcoco1	A	T	15: 102,715,763	M246K	probably benign	Het
Capn8	T	A	1: 182,630,138	I689N	probably benign	Het
Ccno	T	A	13: 112,989,996	L333Q	probably damaging	Het
Cep57	G	A	9: 13,816,985	R148W	probably damaging	Het
Cftr	T	A	6: 18,226,097	M318K	probably null	Het
Chd3	T	G	11: 69,356,333	D1003A	probably damaging	Het
Ckmt2	T	A	13: 91,863,203	D96V	possibly damaging	Het
Cldn13	A	G	5: 134,915,322	V3A	probably benign	Het
Col17a1	T	C	19: 47,670,432	T413A	probably benign	Het
Cpne5	A	T	17: 29,211,660	L92H	probably damaging	Het
Dnaaf2	C	A	12: 69,197,744	R181L	probably damaging	Het
Erbin	C	A	13: 103,868,865	C114F	probably damaging	Het
Fanca	A	T	8: 123,274,172	C1156*	probably null	Het
Flot2	T	A	11: 78,058,958	I322N	possibly damaging	Het
Fstl5	T	C	3: 76,707,753	V707A	possibly damaging	Het
Gli3	T	G	13: 15,723,558	L741R	probably damaging	Het
Gmip	G	T	8: 69,810,818	S70I	probably benign	Het
Gnptab	T	C	10: 88,440,309	S1153P	probably damaging	Het
Gramd1a	T	C	7: 31,138,254	D360G	possibly damaging	Het
Gtf2i	T	C	5: 134,251,886	E518G	probably damaging	Het
Hrasls5	T	A	19: 7,637,298		probably null	Het
Hsp90b1	T	C	10: 86,694,155	E226G	probably damaging	Het
Impg2	A	G	16: 56,252,264	Y353C	probably damaging	Het
Kank1	A	G	19: 25,424,313	K1095E	probably benign	Het
Kcnh4	C	T	11: 100,757,743	C45Y	probably damaging	Het
Kif13b	A	G	14: 64,803,220	T1590A	probably benign	Het
Lpin3	T	C	2: 160,905,305	V827A	probably benign	Het
Lrp1b	A	T	2: 40,701,761	C73*	probably null	Het
Mcm8	A	G	2: 132,819,994	K83E	possibly damaging	Het
Med12l	A	G	3: 59,227,702	E757G	probably damaging	Het
Mtor	T	A	4: 148,484,380	V1119E	probably benign	Het
Mybpc2	C	T	7: 44,509,029	A710T	possibly damaging	Het
Myof	A	C	19: 37,935,878	I1297S	probably damaging	Het
Nacad	A	G	11: 6,600,903	S763P	probably benign	Het
Nbea	A	G	3: 55,642,817	V2730A	probably benign	Het
Nbeal1	A	G	1: 60,268,063	Y1684C	probably damaging	Het
Olfr1015	T	A	2: 85,785,803	C97*	probably null	Het
Olfr123	A	T	17: 37,795,989	M182L	probably benign	Het
Olfr370	A	G	8: 83,541,513	Y123C	probably damaging	Het
Olfr828	A	G	9: 18,815,641	Y218H	probably damaging	Het
Optn	A	T	2: 5,034,255	N352K	possibly damaging	Het
Pcif1	G	T	2: 164,889,444	R466L	probably damaging	Het
Phxr2	T	C	10: 99,126,117		probably benign	Het
Plb1	T	A	5: 32,355,357	F1353Y	probably damaging	Het
Plec	A	G	15: 76,191,418		probably null	Het
Polr1a	T	A	6: 71,966,416	C1212S	possibly damaging	Het
Primpol	A	T	8: 46,610,461	N53K	probably damaging	Het
Pygo2	T	A	3: 89,433,154	N286K	possibly damaging	Het
Rttn	G	A	18: 88,986,080		probably null	Het
Serpinb3b	G	T	1: 107,159,703	N25K	probably damaging	Het
Sidt2	A	G	9: 45,954,902	I2T	probably benign	Het
Slc12a3	A	T	8: 94,346,346	N699I	possibly damaging	Het
Slc25a30	G	A	14: 75,762,672	Q285*	probably null	Het
Slc4a9	A	T	18: 36,535,539	H724L	probably damaging	Het
Ssbp2	T	A	13: 91,680,579		probably null	Het
Stac3	C	A	10: 127,507,747		probably null	Het
Stk32a	A	G	18: 43,313,501	K339E	probably benign	Het
Stoml2	A	G	4: 43,030,238		probably null	Het
Syne2	G	T	12: 75,966,953	G2974C	probably benign	Het
Tbc1d16	A	G	11: 119,158,729		probably null	Het
Tfdp2	T	G	9: 96,306,893	F200V	probably damaging	Het
Tie1	C	A	4: 118,484,727	R175L	probably benign	Het
Trappc12	A	G	12: 28,747,260	V91A	probably benign	Het
Trim46	G	T	3: 89,236,513	P536Q	probably damaging	Het
Tshz3	T	A	7: 36,770,033	D482E	probably benign	Het
Tspan33	T	C	6: 29,711,092		probably null	Het
Unc80	T	C	1: 66,674,087	L2788P	possibly damaging	Het
Utp20	T	A	10: 88,817,979	T260S	probably benign	Het
Vmn2r118	G	T	17: 55,610,717	T265K	probably damaging	Het
Vmn2r98	A	C	17: 19,066,347	H369P	probably benign	Het
Vps39	A	T	2: 120,338,787	Y245N	possibly damaging	Het
Vps4a	A	C	8: 107,043,066	I336L	probably benign	Het
Xylb	T	C	9: 119,381,587	S379P	probably damaging	Het
Zbtb37	T	C	1: 161,032,496	T80A	probably benign	Het
Zfhx3	A	G	8: 108,948,957	D2213G	probably damaging	Het
Zfp729a	G	T	13: 67,620,354	H585Q	probably damaging	Het
Zfp804b	A	T	5: 6,771,029	I642N	possibly damaging	Het
Zfp804b	A	T	5: 6,771,994	N356K	possibly damaging	Het

Other mutations in Mep1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Mep1a	APN	17	43479084	missense	probably benign	0.00
IGL02814:Mep1a	APN	17	43477221	missense	probably benign
IGL03000:Mep1a	APN	17	43474990	missense	probably benign
IGL03335:Mep1a	APN	17	43477173	missense	possibly damaging	0.63
IGL03410:Mep1a	APN	17	43478095	splice site	probably null
PIT4544001:Mep1a	UTSW	17	43482287	missense	probably damaging	1.00
R0127:Mep1a	UTSW	17	43497886	splice site	probably benign
R0306:Mep1a	UTSW	17	43502643	splice site	probably benign
R0329:Mep1a	UTSW	17	43497898	critical splice donor site	probably null
R0358:Mep1a	UTSW	17	43478950	missense	possibly damaging	0.92
R0667:Mep1a	UTSW	17	43478190	missense	probably benign	0.06
R1101:Mep1a	UTSW	17	43491693	missense	probably benign	0.03
R1458:Mep1a	UTSW	17	43491672	missense	probably damaging	1.00
R1525:Mep1a	UTSW	17	43491636	missense	probably damaging	1.00
R1992:Mep1a	UTSW	17	43502682	missense	probably benign
R2014:Mep1a	UTSW	17	43497906	missense	probably benign	0.01
R2212:Mep1a	UTSW	17	43477263	missense	probably benign	0.02
R3946:Mep1a	UTSW	17	43475041	nonsense	probably null
R4400:Mep1a	UTSW	17	43475006	missense	possibly damaging	0.77
R4598:Mep1a	UTSW	17	43491578	critical splice donor site	probably null
R4616:Mep1a	UTSW	17	43486241	missense	possibly damaging	0.81
R4688:Mep1a	UTSW	17	43482248	missense	possibly damaging	0.89
R5085:Mep1a	UTSW	17	43478144	missense	probably damaging	0.99
R5355:Mep1a	UTSW	17	43477146	missense	probably damaging	0.98
R5832:Mep1a	UTSW	17	43478164	missense	probably benign	0.27
R5833:Mep1a	UTSW	17	43478164	missense	probably benign	0.27
R5834:Mep1a	UTSW	17	43478164	missense	probably benign	0.27
R5835:Mep1a	UTSW	17	43478164	missense	probably benign	0.27
R6280:Mep1a	UTSW	17	43502392	missense	probably damaging	1.00
R6340:Mep1a	UTSW	17	43479058	missense	probably benign	0.00
R6340:Mep1a	UTSW	17	43479233	missense	probably benign	0.00
R6934:Mep1a	UTSW	17	43482230	missense	probably damaging	0.99
R7247:Mep1a	UTSW	17	43475104	missense	possibly damaging	0.67
R7660:Mep1a	UTSW	17	43478977	missense	probably benign	0.29
R7685:Mep1a	UTSW	17	43479174	missense	probably benign	0.00
R7703:Mep1a	UTSW	17	43478106	missense	possibly damaging	0.69
R7871:Mep1a	UTSW	17	43479235	missense	probably benign	0.33
R8131:Mep1a	UTSW	17	43502667	missense	probably benign	0.00
R8783:Mep1a	UTSW	17	43478190	missense	probably benign	0.00
R8880:Mep1a	UTSW	17	43497917	missense	possibly damaging	0.46
R9448:Mep1a	UTSW	17	43494978	critical splice acceptor site	probably null
R9455:Mep1a	UTSW	17	43494976	missense	probably benign	0.00
RF010:Mep1a	UTSW	17	43486235	missense	probably damaging	0.99
Z1088:Mep1a	UTSW	17	43491596	missense	probably damaging	1.00
Z1176:Mep1a	UTSW	17	43477320	missense	probably benign	0.08
Z1177:Mep1a	UTSW	17	43486297	missense	probably damaging	1.00
Z1177:Mep1a	UTSW	17	43486306	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08