Mutagenetix > Incidental Mutations

Incidental Mutation 'R8783:Mep1a'

670443

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8783 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43478190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 578 (D578G)

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: D578G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: D578G

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: D565G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: D565G

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (75/75)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	T	A	13: 54,552,707	M273L	probably benign	Het
Aars	A	G	8: 111,049,883	N657S	probably benign	Het
Ahnak	A	T	19: 9,011,473	N3374Y	probably damaging	Het
Ank2	T	C	3: 127,052,806	E180G	probably damaging	Het
Arhgap20	T	A	9: 51,816,667		probably benign	Het
Armc5	G	A	7: 128,238,253	A43T	probably damaging	Het
Atad3a	T	A	4: 155,755,695	D142V	probably damaging	Het
B4galnt4	A	T	7: 141,063,846	K54M	probably damaging	Het
Bcl11b	T	C	12: 107,917,303	E251G	probably damaging	Het
Bptf	A	G	11: 107,131,531	V131A	unknown	Het
Btbd7	T	A	12: 102,788,242	H755L	probably benign	Het
Cadps2	A	G	6: 23,302,304	V1128A	possibly damaging	Het
Ccl2	T	C	11: 82,036,534	I43T	probably damaging	Het
Cdc25b	T	G	2: 131,191,852	S207A	probably benign	Het
Chd4	A	G	6: 125,123,384	T1725A	possibly damaging	Het
Cmya5	A	T	13: 93,089,380	S3067T	possibly damaging	Het
Col9a3	G	A	2: 180,614,177	D448N	probably damaging	Het
Cpxm1	C	A	2: 130,395,723	R187S	probably benign	Het
Cramp1l	T	A	17: 24,974,758	N916I	probably damaging	Het
Creld1	A	G	6: 113,491,725	Y269C	probably damaging	Het
Ctsz	G	T	2: 174,438,882	S6*	probably null	Het
Cul7	T	C	17: 46,655,649	S633P	probably benign	Het
Eci2	T	A	13: 34,990,197	N160I	probably damaging	Het
Eef2	T	A	10: 81,179,665	M340K	probably damaging	Het
Enpp6	A	T	8: 46,987,185	Y72F	possibly damaging	Het
Erbb4	A	C	1: 68,040,172	Y1250D	possibly damaging	Het
Fhad1	C	T	4: 141,909,092	V1146M	probably benign	Het
Fryl	T	C	5: 73,068,842	Y1826C	probably benign	Het
Gm3252	A	G	14: 4,743,761	K200E	probably benign	Het
Gm4858	A	G	3: 93,074,473	Y192C	probably damaging	Het
Gm9573	T	C	17: 35,619,983	T1104A	unknown	Het
Gramd1a	T	C	7: 31,132,795	T640A	possibly damaging	Het
Gse1	A	T	8: 120,576,378	Q1086L	unknown	Het
Gtf2f2	C	A	14: 76,007,724	G41W	probably damaging	Het
Hhat	A	G	1: 192,513,937	Y483H	probably damaging	Het
Ifna13	T	A	4: 88,644,289	R33W	probably damaging	Het
Ighg2c	T	A	12: 113,288,792	S47C		Het
Ing5	A	T	1: 93,812,432	D101V	probably damaging	Het
Kif23	T	C	9: 61,927,571	T379A	probably benign	Het
Ltn1	A	T	16: 87,410,359	S898T	probably benign	Het
Mgam	A	T	6: 40,656,489	H243L	probably damaging	Het
Mlf1	G	A	3: 67,384,664	R54H	probably benign	Het
Mtus2	A	T	5: 148,083,051	K752M	probably damaging	Het
Mup18	T	A	4: 61,673,530	D53V	probably benign	Het
Neb	A	T	2: 52,258,632	D2634E	probably damaging	Het
Nfatc3	A	T	8: 106,099,152	I620F	possibly damaging	Het
Nrg1	A	T	8: 31,958,601	L104Q	probably benign	Het
Nsd2	T	A	5: 33,879,111	D646E	possibly damaging	Het
Olfr1180	T	C	2: 88,412,607	N17S	probably benign	Het
Olfr1490	A	T	19: 13,654,959	R177W	probably damaging	Het
Olfr632	A	T	7: 103,937,544	T55S	possibly damaging	Het
Pbp2	T	C	6: 135,310,332	S6G	probably benign	Het
Pcdhga5	T	C	18: 37,695,543	I348T	probably benign	Het
Pdxk	A	G	10: 78,451,505	V74A	probably benign	Het
Pdzrn3	C	T	6: 101,155,880	R469H	probably damaging	Het
Pla2g4a	A	T	1: 149,864,990	S395R	probably damaging	Het
Polr2i	A	G	7: 30,232,365	Y7C	possibly damaging	Het
Psmc5	A	T	11: 106,263,032	K397N	possibly damaging	Het
Ptprz1	A	G	6: 23,002,027	D1372G	probably benign	Het
R3hdm2	T	G	10: 127,457,652	S142A	probably damaging	Het
Rapgef2	A	T	3: 79,098,344	V181E	probably damaging	Het
Rassf3	T	G	10: 121,417,164	N46T	probably benign	Het
Rnf123	T	C	9: 108,069,073	E301G	probably benign	Het
Sec24b	T	A	3: 129,989,693	M1099L	probably benign	Het
Shisa4	A	G	1: 135,373,206	C109R	probably damaging	Het
Slc7a1	T	A	5: 148,342,833	E237V	probably benign	Het
Syna	C	T	5: 134,559,869	M75I	probably benign	Het
Tas2r105	A	G	6: 131,686,769	I232T	possibly damaging	Het
Tas2r136	T	C	6: 132,777,649	T172A	probably benign	Het
Trim6	G	A	7: 104,225,646	C30Y	probably damaging	Het
Trim65	T	A	11: 116,126,317	N440Y	probably damaging	Het
Ttn	A	C	2: 76,743,350	I25733S	probably damaging	Het
Ttn	T	G	2: 76,789,014	T16035P	probably damaging	Het
Vmn2r73	A	T	7: 85,858,460	M548K	probably damaging	Het
Vmn2r88	A	T	14: 51,414,066	E279V		Het
Wfdc8	G	A	2: 164,605,849	S97F	probably benign	Het
Wrn	G	A	8: 33,336,013	A207V	probably null	Het
Xrcc2	T	C	5: 25,692,219	D244G	possibly damaging	Het
Zfp251	C	T	15: 76,853,213	G560E	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
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
R8880:Mep1a	UTSW	17	43497917	missense	possibly damaging	0.46
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'- CTTGACCAAACAAGTAAAATATGGCT -3'
(R):5'- GTGACACAGTGATATGAATGTAGAATT -3'

Sequencing Primer
(F):5'- TAGACCAGTCAGAGCCTAAG -3'
(R):5'- AGGACAATCTGAGTGTTGCCC -3'

Posted On

2021-04-30