Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Mep1a'

714096

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 #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 43494978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024707 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably null
Transcript: ENSMUST00000024707

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914

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

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914

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: 99.9%
10x: 99.6%
20x: 98.8%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	T	9: 103,272,582	Q259K	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Adcy1	T	C	11: 7,149,575	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,186,205	T417K	probably benign	Het
Atp6v1a	T	A	16: 44,111,509	K139*	probably null	Het
Baz1b	T	C	5: 135,210,802	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,938,975	W380R		Het
Cep290	T	G	10: 100,559,684	V2118G	probably benign	Het
Crb2	A	G	2: 37,787,761	D352G	probably benign	Het
Csmd3	T	C	15: 47,596,919	D2581G		Het
Diras2	T	A	13: 52,508,086	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,545,891	V202A	possibly damaging	Het
Dok1	T	C	6: 83,032,991	K46E	probably damaging	Het
Dph7	A	T	2: 24,971,940	K455M	probably damaging	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Ehbp1	T	C	11: 22,137,881	N426S	probably benign	Het
Exo5	A	G	4: 120,921,691	W326R	probably damaging	Het
Fam149a	T	A	8: 45,339,374		probably null	Het
Fam205a1	A	T	4: 42,850,250	Y635*	probably null	Het
Flii	T	C	11: 60,715,567	N1099S	probably benign	Het
Flvcr1	T	C	1: 191,012,209	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,128,869	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826	E427*	probably null	Het
Galnt18	A	T	7: 111,554,442	I325N	probably damaging	Het
Gm12394	T	C	4: 42,793,440	R231G	probably benign	Het
Gm5478	T	C	15: 101,645,227	N274S	probably damaging	Het
Grm7	A	T	6: 111,358,232	T535S	probably benign	Het
Heatr5b	T	C	17: 78,760,586	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,571,172	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,327,444	Y46C	probably benign	Het
Kdr	T	C	5: 75,941,909	E1186G	probably benign	Het
Knstrn	T	C	2: 118,814,494		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Ltbp1	C	T	17: 75,359,460	Q1383*	probably null	Het
Mep1b	A	G	18: 21,084,142	D106G	probably damaging	Het
Moxd2	T	C	6: 40,887,226	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,414,953		probably null	Het
Nlrp4e	A	T	7: 23,301,531	M84L	probably benign	Het
Noc2l	C	A	4: 156,236,324	R66S	probably benign	Het
Nox4	A	T	7: 87,395,793	L580F	unknown	Het
Numb	A	G	12: 83,842,216		probably null	Het
Olfr1136	A	T	2: 87,693,480	V134E	probably damaging	Het
Olfr365	A	G	2: 37,201,209		probably benign	Het
Parp8	T	A	13: 116,902,824	K274*	probably null	Het
Pcdh1	G	A	18: 38,197,439	P976L	probably damaging	Het
Pcnt	T	C	10: 76,420,526	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,854,606	D178V	probably damaging	Het
Phldb1	G	T	9: 44,711,249	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,305,811	E111G	probably damaging	Het
Plcb4	G	A	2: 135,910,125	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,061,260	Y646N	probably benign	Het
Psmc6	T	C	14: 45,331,026	F69L	probably benign	Het
Ptk2	T	A	15: 73,343,192	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,732,808	R23W	probably damaging	Het
Ptprb	T	A	10: 116,313,914	Y143*	probably null	Het
Qrich2	T	C	11: 116,447,265	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,579,909		probably benign	Het
Scn5a	A	G	9: 119,552,061	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,349,359	F676S	probably damaging	Het
Spata32	C	T	11: 103,208,822	G286R	probably damaging	Het
Tbx19	T	C	1: 165,153,521	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,625,676	T1494A	probably benign	Het
Tmem62	A	C	2: 120,977,730	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,745,068	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,198,673	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,872,819	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,221,694	G159C		Het
Zfy2	A	G	Y: 2,109,904	W338R	probably damaging	Het
Znfx1	T	G	2: 167,046,924	Q788P	probably benign	Het
Zscan26	A	G	13: 21,448,261	V100A	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
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
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'- TTGAGACTGCAAAGATAGCTCAAG -3'
(R):5'- AGGGTCAGACACCTTTAACTAC -3'

Sequencing Primer
(F):5'- CTCAAGAGCTAAGACTTGCTTTTG -3'
(R):5'- CGGTCAGTCCTCTGTATACT -3'

Posted On

2022-06-15