Mutagenetix > Incidental Mutations

Incidental Mutation 'R3946:Mep1a'

307733

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

040827-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43475041 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 719 (L719*)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

PDB Structure

[]

Predicted Effect

probably null
Transcript: ENSMUST00000024707
AA Change: L732*

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: L732*

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
AA Change: L719*

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: L719*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Brca2	T	A	5: 150,536,704	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426		probably benign	Het
Cic	C	A	7: 25,272,346	R501S	possibly damaging	Het
Coch	A	G	12: 51,601,812		probably null	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700		probably null	Het
Dtx1	T	G	5: 120,681,286	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601	L135P	probably damaging	Het
Gm14412	A	T	2: 177,314,685	C472*	probably null	Het
Gm7104	T	C	12: 88,286,042		noncoding transcript	Het
Got2	A	G	8: 95,888,230	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851	Y88C	probably damaging	Het
Mmp23	T	C	4: 155,652,023	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,520,760	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rad17	G	A	13: 100,622,863	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973	H514R	probably benign	Het
Serbp1	T	A	6: 67,272,220	D223E	probably benign	Het
Slc14a1	C	A	18: 78,111,392	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747		probably benign	Het
Svs2	T	C	2: 164,237,127	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481	Y626H	probably damaging	Het
Tmx3	G	A	18: 90,524,335	A186T	possibly damaging	Het
Traf3	G	A	12: 111,255,245	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189	D1330G	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
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
R7954:Mep1a	UTSW	17	43479235	missense	probably benign	0.33
R8131:Mep1a	UTSW	17	43502667	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'- GGCCCTCTCAACATGTTTGATG -3'
(R):5'- GTGGCCACATGAATTGATACG -3'

Sequencing Primer
(F):5'- GTTTGATGAAAACTACCCCCAGAGTG -3'
(R):5'- TTGATACGTGTAAAGCCCATGG -3'

Posted On

2015-04-17