Mutagenetix > Incidental Mutation

Incidental Mutation 'R5835:Mep1a'

449569

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

044056-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43478164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 574 (H574Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably benign
Transcript: ENSMUST00000024707
AA Change: H587Y

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: H587Y

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: H574Y

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: H574Y

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,349	V173M	probably damaging	Het
A2m	A	G	6: 121,639,336	K141R	probably damaging	Het
Ablim3	T	C	18: 61,823,922	E278G	probably damaging	Het
Adam28	A	G	14: 68,655,681	W4R	possibly damaging	Het
Ahnak2	T	C	12: 112,775,796	N614S	possibly damaging	Het
Arfgef1	A	G	1: 10,160,739	S1182P	probably damaging	Het
Asb8	A	T	15: 98,136,382	D97E	probably damaging	Het
AU041133	T	A	10: 82,151,212	L232H	probably damaging	Het
Bmp2k	T	G	5: 97,056,982	V392G	possibly damaging	Het
Capn12	C	A	7: 28,881,958	H79N	probably benign	Het
Casp2	C	A	6: 42,267,586	S54R	possibly damaging	Het
Ccdc18	T	C	5: 108,140,874	S163P	possibly damaging	Het
Ccdc92b	A	G	11: 74,638,012	E114G	probably benign	Het
Cd209c	C	A	8: 3,945,699	M34I	probably benign	Het
Ceacam18	A	T	7: 43,636,958	H85L	probably benign	Het
Cndp1	C	A	18: 84,612,833	A434S	probably benign	Het
Crybg1	T	A	10: 43,975,133	T1581S	probably benign	Het
Cyb5d2	A	T	11: 72,789,210	D86E	probably damaging	Het
Duox1	T	G	2: 122,327,860	V608G	probably benign	Het
Exosc10	A	G	4: 148,565,387	R425G	probably damaging	Het
Fat3	A	T	9: 16,375,833	I798N	probably damaging	Het
Habp2	T	A	19: 56,306,786	D36E	probably benign	Het
Herpud1	T	C	8: 94,392,239	V207A	probably damaging	Het
Htt	A	G	5: 34,813,190	I561V	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Igkv18-36	A	G	6: 69,992,528	I93T	probably damaging	Het
Kalrn	T	G	16: 33,987,091	E2636A	probably benign	Het
Kif27	A	G	13: 58,313,146		probably null	Het
Myh6	T	C	14: 54,950,407	K1197E	probably damaging	Het
Obscn	T	C	11: 59,002,081	T6780A	probably benign	Het
Obscn	C	T	11: 59,042,127	V4808M	probably damaging	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Pkhd1	T	C	1: 20,201,083	D3082G	probably benign	Het
Plch1	T	C	3: 63,697,522	M1645V	probably benign	Het
Ppip5k1	A	G	2: 121,337,899	V674A	probably benign	Het
Prrc2b	T	A	2: 32,206,473	S619T	probably benign	Het
Rab44	A	T	17: 29,148,238	H714L	probably benign	Het
Rybp	A	G	6: 100,233,190	Y70H	possibly damaging	Het
Sfrp1	A	G	8: 23,446,244	K234R	possibly damaging	Het
Slc1a2	A	G	2: 102,777,450	N481S	probably damaging	Het
Slc44a3	T	G	3: 121,527,200	I51L	probably benign	Het
Slitrk1	A	G	14: 108,911,572	F569S	possibly damaging	Het
Smurf2	A	T	11: 106,836,148	N451K	probably damaging	Het
Sptbn2	T	A	19: 4,738,219	D1075E	probably damaging	Het
Syngap1	A	T	17: 26,958,218	H65L	probably benign	Het
Tdrd12	T	C	7: 35,529,264	D11G	probably damaging	Het
Tex2	C	T	11: 106,519,913	A926T	unknown	Het
Tm7sf2	A	G	19: 6,063,884	F209S	probably damaging	Het
Trbv12-2	G	A	6: 41,118,840		probably benign	Het
Virma	T	A	4: 11,514,036	L630H	probably damaging	Het
Vmn1r68	A	G	7: 10,527,820	I117T	possibly damaging	Het
Zan	C	A	5: 137,456,655	R1373L	unknown	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
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'- ATGAAATTCTGGTTTCTCTCAGGG -3'
(R):5'- GCCCTTCATGCTCATAAAAGAC -3'

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

Posted On

2016-12-20