Mutagenetix > Incidental Mutation

Incidental Mutation 'R5085:Mep1a'

387403

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

042674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43478144 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 580 (R580S)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably damaging
Transcript: ENSMUST00000024707
AA Change: R593S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: R593S

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 damaging
Transcript: ENSMUST00000117137
AA Change: R580S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: R580S

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

92% (69/75)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,678,180	S182G	probably damaging	Het
4930562C15Rik	A	T	16: 4,835,973	K129*	probably null	Het
Adamts6	A	T	13: 104,307,243	D162V	probably damaging	Het
Alms1	C	A	6: 85,620,732	P1316T	possibly damaging	Het
AU040320	A	T	4: 126,828,871	N394I	possibly damaging	Het
Cacng8	T	C	7: 3,415,580	L416P	possibly damaging	Het
Ccdc136	T	A	6: 29,419,314	N944K	probably damaging	Het
Clcn1	C	T	6: 42,313,880	T896I	probably benign	Het
Col16a1	A	T	4: 130,054,171	Y228F	probably damaging	Het
Cyfip1	A	G	7: 55,898,335	D561G	probably benign	Het
Ddr1	T	A	17: 35,682,775		probably null	Het
Dedd2	A	T	7: 25,218,986	L48Q	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dph3b-ps	A	G	13: 106,547,050		noncoding transcript	Het
Dppa3	T	C	6: 122,629,932	F127S	probably damaging	Het
Dpy19l4	C	T	4: 11,265,943		probably null	Het
Flrt3	T	C	2: 140,660,257	T484A	probably damaging	Het
Gldc	T	C	19: 30,151,536	E179G	probably damaging	Het
Gm14403	A	G	2: 177,508,489	E76G	probably benign	Het
Gm6421	G	A	13: 117,358,433		noncoding transcript	Het
Grk5	T	C	19: 61,076,684	V262A	probably damaging	Het
Grp	A	G	18: 65,880,159	Q132R	probably benign	Het
Hap1	A	G	11: 100,355,711	F123L	probably damaging	Het
Hrc	A	G	7: 45,337,021	D532G	probably damaging	Het
Igsf9b	C	A	9: 27,317,437	F164L	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Kansl1	C	T	11: 104,424,342	R290Q	probably damaging	Het
Kifc2	T	A	15: 76,661,296	L81Q	probably damaging	Het
Klrc3	T	C	6: 129,639,575	R160G	probably damaging	Het
Mal	A	G	2: 127,640,273	M70T	probably benign	Het
Methig1	A	T	15: 100,353,249	I14F	probably damaging	Het
Mrvi1	G	T	7: 110,871,493	L672I	probably damaging	Het
Mtf1	T	C	4: 124,821,308	L242P	probably damaging	Het
Nfkb1	C	A	3: 135,603,807	A509S	probably benign	Het
Olfr1056	A	T	2: 86,355,974	M136K	probably damaging	Het
Olfr133	G	A	17: 38,149,112	D175N	probably damaging	Het
Olfr1352	G	T	10: 78,984,094	M101I	probably benign	Het
Olfr206	A	T	16: 59,345,086	I205K	probably damaging	Het
Olfr753-ps1	C	G	17: 37,169,967	S227T	probably benign	Het
Pabpc2	A	T	18: 39,774,582	N300I	probably damaging	Het
Peg10	C	T	6: 4,755,864		probably benign	Het
Ppp1r3a	T	A	6: 14,719,604	D437V	probably damaging	Het
Prickle1	A	G	15: 93,500,902	S682P	probably damaging	Het
Prkab2	T	C	3: 97,672,992		probably benign	Het
Pus3	T	A	9: 35,565,636	L243Q	possibly damaging	Het
Rgs19	G	A	2: 181,689,543	T99M	possibly damaging	Het
Ripk2	A	G	4: 16,127,663	S360P	possibly damaging	Het
Rock1	A	G	18: 10,140,210	I127T	probably damaging	Het
Serpinb10	T	G	1: 107,542,217	M143R	probably damaging	Het
Sipa1l3	G	A	7: 29,348,575	S247F	probably damaging	Het
Skint6	T	A	4: 113,236,268	Q226L	probably damaging	Het
Slc6a19	T	C	13: 73,691,753	M137V	probably benign	Het
Supv3l1	A	T	10: 62,435,512	N415K	probably benign	Het
Tcrg-V7	A	T	13: 19,178,428	K96*	probably null	Het
Tekt4	A	G	17: 25,473,775	R192G	probably damaging	Het
Tshz1	T	C	18: 84,013,928	N785S	probably benign	Het
Usb1	A	G	8: 95,344,051	T202A	probably damaging	Het
Utp18	A	T	11: 93,870,537	D348E	possibly damaging	Het
Vmn1r42	T	G	6: 89,844,616	I324L	probably benign	Het
Wnt8a	A	T	18: 34,545,603	R157*	probably null	Het
Ypel1	A	G	16: 17,084,608		probably null	Het
Zfp235	A	G	7: 24,137,121	K31E	probably damaging	Het
Zhx2	G	C	15: 57,822,693	W486S	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
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
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

PCR Primer
(F):5'- TGAAATTCTGGTTTCTCTCAGGGAG -3'
(R):5'- TTGGAAGGTACAGCTAACAAGATTG -3'

Sequencing Primer
(F):5'- TGAAGAGTTAGACACACTTGCCCTG -3'
(R):5'- GGTACAGCTAACAAGATTGTATGCCC -3'

Posted On

2016-06-06