Mutagenetix > Incidental Mutation

Incidental Mutation 'R7660:Mep1a'

591541

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43478977 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 494 (G494S)

Ref Sequence

ENSEMBL: ENSMUSP00000024707 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably benign
Transcript: ENSMUST00000024707
AA Change: G494S

PolyPhen 2 Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: G494S

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: G481S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: G481S

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

0.1282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (70/70)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,860,719	H142L	possibly damaging	Het
Abca13	A	G	11: 9,290,678	E847G	probably benign	Het
Abca9	T	A	11: 110,115,452	T1276S	probably benign	Het
Abcb11	C	T	2: 69,287,594		probably null	Het
AF366264	A	T	8: 13,837,995	I32K	probably benign	Het
Alpk1	G	C	3: 127,680,967	H462Q	probably damaging	Het
Armh1	C	A	4: 117,213,741	A396S	probably benign	Het
Atm	C	T	9: 53,445,507	V2815M	probably benign	Het
Braf	T	C	6: 39,623,641	I681V	possibly damaging	Het
Casc3	C	G	11: 98,809,873	R4G	unknown	Het
Crybg1	T	C	10: 43,998,835	D759G	probably damaging	Het
Csrp2	A	G	10: 110,937,763	N103S	probably benign	Het
Faf1	A	T	4: 109,861,837	H380L	probably damaging	Het
Farp1	G	A	14: 121,276,922	A888T	probably benign	Het
Fat4	A	T	3: 38,981,160	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,314,341	T665S	probably benign	Het
Gigyf1	T	C	5: 137,520,969	S343P	probably benign	Het
Glrx3	A	G	7: 137,459,225	Y196C	probably damaging	Het
Gm3278	T	G	14: 4,893,349	L66R	probably damaging	Het
Gm8298	A	G	3: 59,865,268	I64M	probably benign	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ifi205	A	G	1: 174,028,248	V72A	probably benign	Het
Ift140	T	G	17: 25,051,824	L708R	probably damaging	Het
Ints13	A	T	6: 146,557,338	L328M	probably benign	Het
Itfg2	A	G	6: 128,424,746	I23T	probably damaging	Het
Ldha	C	T	7: 46,850,257	P100S	unknown	Het
Lmtk2	T	A	5: 144,148,340	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,817	I600L	probably benign	Het
Map2	C	A	1: 66,414,377	P809T	probably damaging	Het
Matn2	A	G	15: 34,402,946	K439R	probably benign	Het
Matn2	T	A	15: 34,423,728	C577*	probably null	Het
Mtmr4	T	C	11: 87,604,580	F488L	probably damaging	Het
Mtus1	G	T	8: 41,016,211	T8K	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,548,854	T523A	possibly damaging	Het
Ncoa3	C	T	2: 166,069,321	P1334S	probably benign	Het
Neb	T	G	2: 52,249,439	M119L		Het
Nox4	T	C	7: 87,370,022	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,844,327	R510Q	probably damaging	Het
Olfr1077-ps1	A	T	2: 86,525,830	S116T	possibly damaging	Het
Olfr1275	C	T	2: 111,231,615	M59I	probably damaging	Het
Olfr48	T	C	2: 89,844,443	T177A	probably benign	Het
Olfr484	A	G	7: 108,124,834	V143A	probably benign	Het
Olfr807	C	A	10: 129,754,563	E296*	probably null	Het
Olfr839-ps1	T	C	9: 19,175,508	H56R	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pax8	T	C	2: 24,436,561	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,005,851	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,757,130	T397M	possibly damaging	Het
Pdlim5	G	T	3: 142,259,185	H428N	probably damaging	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Rgs3	A	G	4: 62,701,112	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 32,210,458	E68K	probably damaging	Het
Sema4b	C	A	7: 80,220,247	Q428K	probably benign	Het
Serpine2	T	C	1: 79,802,905	T276A	probably benign	Het
Sgo2b	G	A	8: 63,940,074	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,806,089	L833S	probably benign	Het
Slc6a15	T	A	10: 103,393,380		probably null	Het
Srfbp1	G	A	18: 52,475,599	V24I	probably damaging	Het
Stpg2	A	T	3: 139,701,697	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782	S1766T	probably benign	Het
Tiam2	T	A	17: 3,482,605	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170	I661K	possibly damaging	Het
Trim5	T	C	7: 104,279,362	H124R	probably damaging	Het
Trim67	T	A	8: 124,820,285	L478Q	probably damaging	Het
Triml2	A	G	8: 43,193,320	D282G	probably damaging	Het
Txndc11	T	C	16: 11,087,929	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,619,631	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,244,597	V128A	not run	Het
Vmn2r70	T	G	7: 85,568,922	N56T	probably damaging	Het
Vmn2r-ps130	T	A	17: 23,077,032	D725E	probably damaging	Het
Wdr95	T	C	5: 149,594,480	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,930,822	T249A	probably damaging	Het
Zfp54	T	C	17: 21,434,239	C332R	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
R6934:Mep1a	UTSW	17	43482230	missense	probably damaging	0.99
R7247:Mep1a	UTSW	17	43475104	missense	possibly damaging	0.67
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'- CAGGGGCAATTCTTCTTGTTC -3'
(R):5'- GACCCTGGTAACTCAAGTGG -3'

Sequencing Primer
(F):5'- GTTCTCAAATCACCTACCTGAAGATG -3'
(R):5'- TACCTTGATGACATCACTCTGACAG -3'

Posted On

2019-11-12