Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03000:Mep1a'

407288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mep1a

Ensembl Gene

ENSMUSG00000023914

Gene Name

meprin 1 alpha

Synonyms

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03000

Quality Score

Status

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43474990 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 736 (V736A)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

PDB Structure

[]

Predicted Effect

probably benign
Transcript: ENSMUST00000024707
AA Change: V749A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: V749A

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 benign
Transcript: ENSMUST00000117137
AA Change: V736A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: V736A

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

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,321,800	S445G	probably benign	Het
Abca5	C	T	11: 110,317,814	V226I	probably benign	Het
Ankrd34c	A	T	9: 89,729,186	D367E	probably benign	Het
Bmp6	G	T	13: 38,498,911		probably benign	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Cblb	T	G	16: 52,204,542	D933E	probably damaging	Het
Ccny	A	G	18: 9,353,489	S95P	probably benign	Het
Cep192	A	G	18: 67,852,044	I1658V	probably damaging	Het
Cntn6	A	T	6: 104,804,386	T478S	probably damaging	Het
Cpne7	T	C	8: 123,126,696	F247L	probably benign	Het
Csf1r	A	G	18: 61,109,652	E29G	probably damaging	Het
Dctn3	T	A	4: 41,719,912	I65F	possibly damaging	Het
Dock1	A	G	7: 134,789,240	E743G	probably benign	Het
Dus2	C	A	8: 106,048,684	T281N	probably damaging	Het
Gbx1	G	T	5: 24,504,926	T307K	probably benign	Het
Gtf2ird2	A	T	5: 134,194,906	N93I	probably benign	Het
Heatr1	A	G	13: 12,434,411	D1930G	probably damaging	Het
Hif3a	T	C	7: 17,048,639	I334V	probably benign	Het
Ints1	G	T	5: 139,766,506	N756K	probably benign	Het
Kcnn2	T	C	18: 45,560,568	F404L	probably damaging	Het
Kmt2c	G	A	5: 25,284,172	R4590W	probably damaging	Het
Limk1	A	T	5: 134,670,501	V134E	probably damaging	Het
Mex3a	T	A	3: 88,536,295	I226N	probably damaging	Het
Mgl2	A	T	11: 70,134,200	K16*	probably null	Het
Mms22l	G	T	4: 24,581,161	V864L	probably damaging	Het
Mroh4	T	A	15: 74,616,114	M320L	probably benign	Het
Mylk3	G	A	8: 85,359,177	P243S	probably damaging	Het
Nbea	A	C	3: 56,004,627	D1246E	possibly damaging	Het
Ndnf	A	G	6: 65,703,315	T193A	possibly damaging	Het
Nfasc	T	C	1: 132,621,509		probably benign	Het
Olfr421-ps1	A	G	1: 174,151,560	T15A	probably benign	Het
Ptprq	A	T	10: 107,542,657	F2008I	probably damaging	Het
Rhag	A	G	17: 40,828,522	K116R	probably benign	Het
Rictor	T	A	15: 6,769,240		probably benign	Het
Slc35f5	C	A	1: 125,574,742	T277N	probably damaging	Het
Sorcs2	A	G	5: 36,065,331		probably benign	Het
Ssh2	T	A	11: 77,421,206		probably benign	Het
Togaram2	T	C	17: 71,717,370	S830P	probably benign	Het
Trim30d	T	C	7: 104,473,269	T112A	probably benign	Het
Ttc34	T	C	4: 154,865,431	V947A	probably damaging	Het
Ttn	A	G	2: 76,812,609		probably benign	Het
Ubr5	A	T	15: 38,024,852	V560D	probably damaging	Het
Ush2a	A	T	1: 188,549,856	E1856V	possibly damaging	Het
Zfp142	T	C	1: 74,573,618	M457V	probably benign	Het
Zfp711	C	T	X: 112,624,858	Q137*	probably null	Het
Zkscan17	T	C	11: 59,487,160	Y399C	probably damaging	Het
Zswim6	T	G	13: 107,727,114		noncoding transcript	Het
Zswim6	T	A	13: 107,727,115		noncoding transcript	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
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
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

Posted On

2016-08-02