Mutagenetix > Incidental Mutations

Incidental Mutation 'R0358:Mep1a'

29964

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

038564-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0358 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43478950 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 490 (Y490H)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024707
AA Change: Y503H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: Y503H

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

possibly damaging
Transcript: ENSMUST00000117137
AA Change: Y490H

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: Y490H

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.2%
20x: 88.5%

Validation Efficiency

100% (64/64)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	G	A	17: 79,628,156		probably benign	Het
4932431P20Rik	A	T	7: 29,532,211		noncoding transcript	Het
Abca16	A	T	7: 120,544,716	K1651N	probably benign	Het
Abcb1b	T	C	5: 8,821,423	S326P	probably benign	Het
Ache	A	G	5: 137,290,373	T114A	probably benign	Het
Akap3	T	A	6: 126,866,812	V798D	probably damaging	Het
Ankle1	A	G	8: 71,407,545	T256A	probably damaging	Het
Aqp4	T	C	18: 15,398,245	N153S	probably benign	Het
Arhgap23	G	A	11: 97,463,588	V265M	probably damaging	Het
Arhgef25	A	T	10: 127,184,453	M326K	probably damaging	Het
Atp6v1c2	T	C	12: 17,284,960		probably benign	Het
Cars	A	T	7: 143,588,482		probably benign	Het
Cep83	A	T	10: 94,719,731	M96L	probably benign	Het
Cfap46	A	G	7: 139,651,533		probably benign	Het
Cnnm3	T	A	1: 36,521,222	S608T	probably damaging	Het
Cul7	G	A	17: 46,663,744		probably null	Het
Dhrs2	G	A	14: 55,236,117	V78M	probably damaging	Het
Dhx38	A	T	8: 109,552,462	D1051E	probably benign	Het
Eftud2	A	G	11: 102,864,801		probably benign	Het
Egln3	T	C	12: 54,203,296	E89G	possibly damaging	Het
Eif2ak4	A	G	2: 118,463,929		probably null	Het
Fbxl17	G	A	17: 63,356,851	R67C	probably damaging	Het
Fsip2	A	T	2: 82,983,333	N3332I	possibly damaging	Het
Gbp2b	A	T	3: 142,606,789	E311V	probably damaging	Het
Gcnt2	G	T	13: 40,860,853	A167S	probably damaging	Het
Gm9797	A	T	10: 11,609,344		noncoding transcript	Het
Gpatch3	A	G	4: 133,577,904		probably null	Het
Gpr22	T	C	12: 31,709,982	N47S	probably benign	Het
Il18rap	A	T	1: 40,549,042	H600L	possibly damaging	Het
Larp7	A	G	3: 127,547,088		probably null	Het
Mrgprh	T	A	17: 12,877,350	V159D	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nrbp1	T	A	5: 31,244,887	I64N	probably damaging	Het
Nup214	G	A	2: 32,004,300		probably null	Het
Olfr1394	T	A	11: 49,160,244	C77S	probably benign	Het
Olfr149	A	G	9: 39,702,001	I256T	possibly damaging	Het
Olfr532	G	T	7: 140,418,943	L277M	probably damaging	Het
Olfr725	A	T	14: 50,035,286	L39Q	probably damaging	Het
Pef1	A	G	4: 130,127,387	T245A	probably damaging	Het
Phrf1	A	G	7: 141,258,304		probably benign	Het
Ppig	A	G	2: 69,743,598		probably benign	Het
Ppp1r8	G	T	4: 132,834,728	F60L	probably damaging	Het
Psmd11	G	A	11: 80,462,684		probably benign	Het
Ptk6	G	T	2: 181,198,522	H230Q	probably benign	Het
Ptprd	T	C	4: 75,944,989	Y1496C	probably damaging	Het
Rhbdl3	G	T	11: 80,353,631	W388L	probably damaging	Het
Rnf130	T	A	11: 50,071,282	M185K	probably benign	Het
S100a13	A	T	3: 90,515,992	I97F	probably damaging	Het
Slc22a16	T	G	10: 40,587,492		probably null	Het
Tcte1	A	T	17: 45,535,285	T272S	probably benign	Het
Terf1	T	C	1: 15,805,838	V54A	possibly damaging	Het
Tmem63a	T	A	1: 180,956,423	N189K	probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Trim66	G	A	7: 109,460,176	Q954*	probably null	Het
Trpv4	A	G	5: 114,630,432	F525S	probably damaging	Het
Ttll7	A	G	3: 146,944,116	T634A	probably benign	Het
Ush2a	T	G	1: 188,537,780	N1741K	possibly damaging	Het
Zcchc6	T	C	13: 59,782,104	D47G	probably damaging	Het
Zfp451	T	A	1: 33,777,729	H163L	probably 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
R0330:Mep1a	UTSW	17	43497898	critical splice donor site	probably null
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
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

PCR Primer
(F):5'- TCACTGTGTCACTGCTATGCACAAG -3'
(R):5'- TACCAAAGGGGACCCTGGTAACTC -3'

Sequencing Primer
(F):5'- AGACTCAGGGGCAATTCTTC -3'
(R):5'- ACCCTGGTAACTCAAGTGGTG -3'

Posted On

2013-04-24