Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Mep1a'

594151

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

045764-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43478106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 606 (D606G)

Ref Sequence

ENSEMBL: ENSMUSP00000024707 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024707
AA Change: D606G

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: D606G

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

possibly damaging
Transcript: ENSMUST00000117137
AA Change: D593G

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: D593G

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: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,425,767	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 87,972,812	L476P	possibly damaging	Het
Aasdh	T	C	5: 76,888,077	D387G	probably damaging	Het
Ahsa2	T	A	11: 23,490,415	T327S	probably benign	Het
Ap3d1	A	T	10: 80,717,844	V523E	probably damaging	Het
Baz2b	C	A	2: 59,917,425	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 29,043,546	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,337,264	T1714K	probably damaging	Het
Chrna3	A	T	9: 55,016,124	D133E	probably benign	Het
Cnot1	C	T	8: 95,760,098		probably null	Het
Col16a1	A	T	4: 130,096,502	N1396Y	unknown	Het
Cox11	A	G	11: 90,638,419	N77S	probably benign	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cytip	A	G	2: 58,147,908	V148A	probably damaging	Het
Diaph1	T	C	18: 37,890,809	I659V	unknown	Het
Dmxl2	A	T	9: 54,461,086	M26K	probably benign	Het
Erp44	T	A	4: 48,196,904	I340F	probably benign	Het
Fam186a	A	G	15: 99,954,797	M180T	unknown	Het
Frem2	C	T	3: 53,522,168	V2793I	probably benign	Het
Gm19410	A	G	8: 35,799,385	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588	I343V	probably benign	Het
Grsf1	T	A	5: 88,671,291	N228Y	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,682,761	N74K	probably benign	Het
Kcnh6	A	T	11: 106,023,877	T703S	probably benign	Het
Lrp1b	T	A	2: 41,110,786	D2256V		Het
Lrrc63	T	C	14: 75,123,007	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,702,129	E258G	probably damaging	Het
Mcph1	T	C	8: 18,671,106	I650T	possibly damaging	Het
Muc16	T	C	9: 18,605,282	I313M		Het
Myh7b	A	G	2: 155,620,436	Y353C	probably null	Het
Nfatc1	A	G	18: 80,682,289	L420P	probably damaging	Het
Olfml1	A	G	7: 107,571,185	E93G	probably damaging	Het
Olfr251	A	G	9: 38,378,061	H54R	probably benign	Het
Olfr449	A	T	6: 42,838,004	E41V	probably damaging	Het
Pax1	A	T	2: 147,366,114	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,486,748	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,752,268	M164L	probably benign	Het
Pcolce	T	C	5: 137,605,212	N453S	probably benign	Het
Prr36	T	C	8: 4,212,982	T895A	probably benign	Het
Ptprq	C	T	10: 107,644,146	V1088I	probably benign	Het
Rab5a	T	A	17: 53,500,457	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,179,971	D291G	probably benign	Het
Rbm25	A	T	12: 83,675,090	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,645,898	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,793,864	S259P	possibly damaging	Het
Ring1	T	C	17: 34,023,135	D100G	probably damaging	Het
Ryr3	A	T	2: 112,859,765	D1166E	probably damaging	Het
Sacs	A	G	14: 61,206,090	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,447,182	I63T	possibly damaging	Het
Sept14	C	T	5: 129,686,028	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,156,136	Q706L	probably benign	Het
Skap2	A	T	6: 51,907,954	H242Q	probably benign	Het
Tfpt	A	G	7: 3,620,745		probably null	Het
Thegl	T	C	5: 77,016,597	I149T	probably benign	Het
Thg1l	T	G	11: 45,955,293	D58A	probably damaging	Het
Thyn1	A	G	9: 27,006,847	E177G	probably benign	Het
Tmem151b	C	T	17: 45,545,798	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,959,029	V840A	probably benign	Het
Usp32	A	T	11: 85,077,327	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,231,865	V674A	probably benign	Het
Vwa8	A	G	14: 79,026,073	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,137,362	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917	I476T	probably benign	Het
Zfp91	A	T	19: 12,776,877	D282E	probably benign	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
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'- AAATTCTGGTTTCTCTCAGGGAG -3'
(R):5'- TCTGCAGCTATAAATGGCTCTG -3'

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

Posted On

2019-11-12