Mutagenetix > Incidental Mutation

Incidental Mutation 'R6934:Mep1a'

540225

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

045049-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43482230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 361 (V361E)

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: V374E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: V374E

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: V361E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: V361E

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

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	T	A	8: 121,539,973	Y58F	probably benign	Het
9530003J23Rik	C	T	10: 117,238,508	D25N	probably benign	Het
Asap2	T	C	12: 21,168,250	V58A	probably damaging	Het
BC067074	T	C	13: 113,369,266	S2310P	probably benign	Het
Bccip	A	G	7: 133,720,791	M289V	probably benign	Het
Bhmt2	A	T	13: 93,662,311	I334N	probably benign	Het
Copa	T	A	1: 172,110,686	I513N	possibly damaging	Het
Ctif	G	A	18: 75,435,360	T569M	probably benign	Het
Dennd1a	A	T	2: 37,801,213	M231K	possibly damaging	Het
Dnah3	A	G	7: 120,054,601		probably null	Het
Fat3	T	C	9: 16,376,956	I424V	probably damaging	Het
Foxred2	G	T	15: 77,952,330	C328*	probably null	Het
Gemin5	A	T	11: 58,147,912	H590Q	probably damaging	Het
Gm5475	T	C	15: 100,427,126		probably benign	Het
Gmip	A	G	8: 69,820,926	T956A	probably benign	Het
Hmbox1	A	T	14: 64,896,832	D106E	probably benign	Het
Irs2	A	T	8: 11,004,697	I1245N	probably damaging	Het
Kcnk1	A	G	8: 126,025,390	Y245C	probably damaging	Het
Krtap4-9	A	T	11: 99,785,882	R210*	probably null	Het
Lama1	A	G	17: 67,774,543	D1325G	probably benign	Het
Mrgprx2	A	G	7: 48,482,065	I92T	possibly damaging	Het
Nup214	A	T	2: 31,982,671	R242*	probably null	Het
Nynrin	T	G	14: 55,863,878	S335A	probably benign	Het
Olfr484	A	G	7: 108,124,819	V148A	probably benign	Het
Olfr538	T	G	7: 140,574,651	L166R	probably damaging	Het
Olfr905	T	G	9: 38,473,176	I143S	probably benign	Het
Orc2	T	C	1: 58,500,364	K39E	probably benign	Het
Ppl	C	T	16: 5,094,509	G736D	probably benign	Het
Ppp2r1a	A	G	17: 20,961,633	E471G	possibly damaging	Het
Prrc2c	G	A	1: 162,720,505	P161S	probably benign	Het
Rnf213	A	G	11: 119,420,067	I804V	probably benign	Het
Saal1	A	G	7: 46,702,664	C144R	probably benign	Het
Slc29a4	G	A	5: 142,712,958	V125I	probably benign	Het
Smarcc2	A	G	10: 128,469,672	T322A	probably benign	Het
Srgap2	A	T	1: 131,317,231	M591K	possibly damaging	Het
Stard9	A	G	2: 120,697,695	I1478V	probably benign	Het
Tet2	A	G	3: 133,483,237		probably null	Het
Tmem150c	C	T	5: 100,095,606		probably null	Het
Tmem39b	T	A	4: 129,678,573	H412L	possibly damaging	Het
Tox	A	C	4: 6,697,635	H389Q	probably damaging	Het
Trank1	T	C	9: 111,373,090	I1595T	probably damaging	Het
Vmn2r-ps117	T	G	17: 18,824,705	Y461*	probably null	Het
Vps13a	T	C	19: 16,676,194	H1941R	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
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
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'- AACTTTCCAGGCCTTAAAACCTTC -3'
(R):5'- GGTTGCTCTCTCCATAGGTG -3'

Sequencing Primer
(F):5'- AACCTTCTAATAAAACAGGTCAGAAG -3'
(R):5'- CATAGGTGCCGGCTACTTCATG -3'

Posted On

2018-11-06