Mutagenetix > Incidental Mutations

Incidental Mutation 'R0667:Mep1a'

218562

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

038852-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0667 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43478190 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 565 (D565A)

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: D578A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: D578A

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: D565A

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: D565A

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

0.2437

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	C	G	7: 140,261,537	S251R	possibly damaging	Het
Abca5	G	T	11: 110,327,811	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,624	R244C	probably damaging	Het
Atad2	A	G	15: 58,098,719	S1143P	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Cand1	A	G	10: 119,216,520	S234P	probably benign	Het
Cd200	T	A	16: 45,394,857	I144L	probably benign	Het
Cep76	A	T	18: 67,634,778	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,628,462	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,828,101	D155E	probably damaging	Het
Col6a4	G	A	9: 106,029,959		probably benign	Het
Dsg2	A	C	18: 20,573,499	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,377,490	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,411,865		probably benign	Het
Kansl1	A	G	11: 104,343,538	V714A	probably benign	Het
Kcnh1	T	A	1: 192,506,038	S936T	probably benign	Het
Klhdc3	A	T	17: 46,677,225	F205I	probably benign	Het
Krt31	T	A	11: 100,048,125	H290L	probably benign	Het
Lama2	T	A	10: 27,344,410		probably null	Het
Mgme1	T	A	2: 144,278,987		probably benign	Het
Mtf2	C	T	5: 108,104,503	T409I	probably damaging	Het
Mylk3	A	G	8: 85,355,165		probably null	Het
Myo1c	A	G	11: 75,668,512	E650G	probably damaging	Het
Nipbl	A	C	15: 8,361,004	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,692,013	V251D	possibly damaging	Het
Olfr1239	T	C	2: 89,417,688	I242V	probably benign	Het
Olfr138	C	A	17: 38,275,157	P129T	probably damaging	Het
Olfr855	T	A	9: 19,585,447	N303K	probably benign	Het
Osm	G	T	11: 4,239,918	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,031	A515V	probably benign	Het
Piwil1	T	A	5: 128,741,478		probably null	Het
Pld1	A	G	3: 28,079,178		probably null	Het
Plekhg3	C	T	12: 76,576,598	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,913,694	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,791,995	Y240C	probably damaging	Het
Prr36	G	T	8: 4,216,311		probably benign	Het
Ptprd	A	G	4: 75,957,346	I908T	probably damaging	Het
Sae1	A	T	7: 16,368,532	N172K	probably damaging	Het
Satb1	T	G	17: 51,782,861	Q319H	probably damaging	Het
Scn2a	A	T	2: 65,751,996	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,484,411	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,032,926	L60*	probably null	Het
Setd1a	A	G	7: 127,786,593	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,648,881	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,177,850	H115Q	probably benign	Het
Tiam1	C	A	16: 89,897,984	S195I	probably damaging	Het
Tjp2	A	G	19: 24,108,749	V803A	probably benign	Het
Ttc5	T	A	14: 50,765,958	Q423L	probably benign	Het
Tyk2	A	C	9: 21,108,871	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,310,677	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,355,654	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,326,241	F792L	probably damaging	Het
Vps13c	G	A	9: 67,951,573	W2768*	probably null	Het
Zfp456	A	T	13: 67,366,742	C282S	probably benign	Het
Zhx1	T	C	15: 58,053,165	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,465,118	G481C	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
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
RF010:Mep1a	UTSW	17	43486235	missense	probably damaging	0.99
Z1088:Mep1a	UTSW	17	43491596	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAAATCAATAGACCAGTCAGAGCCT -3'
(R):5'- GTGCATAGCAGTGACACAGTGATATGA -3'

Sequencing Primer
(F):5'- GTCAGAGCCTAAGATTATTGACCCAG -3'
(R):5'- agagagagagagagagagagaaag -3'

Posted On

2014-08-18