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-1, meprin A alpha-subunit, meprin alpha, Mep-1a, Mep1

MMRRC Submission

045735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7660 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43785215-43813703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43789868 bp (GRCm39)

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: 123,754,512 (GRCm39)	H142L	possibly damaging	Het
Aadacl2fm3	A	G	3: 59,772,689 (GRCm39)	I64M	probably benign	Het
Abca13	A	G	11: 9,240,678 (GRCm39)	E847G	probably benign	Het
Abca9	T	A	11: 110,006,278 (GRCm39)	T1276S	probably benign	Het
Abcb11	C	T	2: 69,117,938 (GRCm39)		probably null	Het
Alpk1	G	C	3: 127,474,616 (GRCm39)	H462Q	probably damaging	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atm	C	T	9: 53,356,807 (GRCm39)	V2815M	probably benign	Het
Braf	T	C	6: 39,600,575 (GRCm39)	I681V	possibly damaging	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Crybg1	T	C	10: 43,874,831 (GRCm39)	D759G	probably damaging	Het
Csrp2	A	G	10: 110,773,624 (GRCm39)	N103S	probably benign	Het
Faf1	A	T	4: 109,719,034 (GRCm39)	H380L	probably damaging	Het
Farp1	G	A	14: 121,514,334 (GRCm39)	A888T	probably benign	Het
Fat4	A	T	3: 39,035,309 (GRCm39)	Q2987L	probably benign	Het
Fkbp15	T	A	4: 62,232,578 (GRCm39)	T665S	probably benign	Het
Gigyf1	T	C	5: 137,519,231 (GRCm39)	S343P	probably benign	Het
Glrx3	A	G	7: 137,060,954 (GRCm39)	Y196C	probably damaging	Het
Gm3278	T	G	14: 16,080,387 (GRCm39)	L66R	probably damaging	Het
Ifi205	A	G	1: 173,855,814 (GRCm39)	V72A	probably benign	Het
Ift140	T	G	17: 25,270,798 (GRCm39)	L708R	probably damaging	Het
Ints13	A	T	6: 146,458,836 (GRCm39)	L328M	probably benign	Het
Itfg2	A	G	6: 128,401,709 (GRCm39)	I23T	probably damaging	Het
Ldha	C	T	7: 46,499,681 (GRCm39)	P100S	unknown	Het
Lmtk2	T	A	5: 144,085,158 (GRCm39)	L210H	probably damaging	Het
Lrrc4	T	A	6: 28,829,816 (GRCm39)	I600L	probably benign	Het
Map2	C	A	1: 66,453,536 (GRCm39)	P809T	probably damaging	Het
Matn2	A	G	15: 34,403,092 (GRCm39)	K439R	probably benign	Het
Matn2	T	A	15: 34,423,874 (GRCm39)	C577*	probably null	Het
Mtmr4	T	C	11: 87,495,406 (GRCm39)	F488L	probably damaging	Het
Mtus1	G	T	8: 41,469,248 (GRCm39)	T8K	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mybpc1	T	C	10: 88,384,716 (GRCm39)	T523A	possibly damaging	Het
Ncoa3	C	T	2: 165,911,241 (GRCm39)	P1334S	probably benign	Het
Neb	T	G	2: 52,139,451 (GRCm39)	M119L		Het
Nox4	T	C	7: 87,019,230 (GRCm39)	Y408H	probably damaging	Het
Nxpe3	C	T	16: 55,664,690 (GRCm39)	R510Q	probably damaging	Het
Or4c58	T	C	2: 89,674,787 (GRCm39)	T177A	probably benign	Het
Or4f52	C	T	2: 111,061,960 (GRCm39)	M59I	probably damaging	Het
Or5p60	A	G	7: 107,724,041 (GRCm39)	V143A	probably benign	Het
Or6c214	C	A	10: 129,590,432 (GRCm39)	E296*	probably null	Het
Or7g23	T	C	9: 19,086,804 (GRCm39)	H56R	probably benign	Het
Or8k31-ps1	A	T	2: 86,356,174 (GRCm39)	S116T	possibly damaging	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pax8	T	C	2: 24,326,573 (GRCm39)	Y263C	probably benign	Het
Pcdha11	T	A	18: 37,138,904 (GRCm39)	Y178N	probably benign	Het
Pcdhga11	C	T	18: 37,890,183 (GRCm39)	T397M	possibly damaging	Het
Pdlim5	G	T	3: 141,964,946 (GRCm39)	H428N	probably damaging	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Rgs3	A	G	4: 62,619,349 (GRCm39)	D478G	possibly damaging	Het
Scgb2b11	C	T	7: 31,909,883 (GRCm39)	E68K	probably damaging	Het
Sema4b	C	A	7: 79,869,995 (GRCm39)	Q428K	probably benign	Het
Semp2l2a	A	T	8: 13,887,995 (GRCm39)	I32K	probably benign	Het
Serpine2	T	C	1: 79,780,622 (GRCm39)	T276A	probably benign	Het
Sgo2b	G	A	8: 64,393,108 (GRCm39)	H110Y	probably benign	Het
Slc12a7	T	C	13: 73,954,208 (GRCm39)	L833S	probably benign	Het
Slc6a15	T	A	10: 103,229,241 (GRCm39)		probably null	Het
Srfbp1	G	A	18: 52,608,671 (GRCm39)	V24I	probably damaging	Het
Stpg2	A	T	3: 139,407,458 (GRCm39)	N537Y	probably damaging	Het
Svep1	A	T	4: 58,087,782 (GRCm39)	S1766T	probably benign	Het
Tiam2	T	A	17: 3,532,880 (GRCm39)	M1K	probably null	Het
Tmem245	A	T	4: 56,899,170 (GRCm39)	I661K	possibly damaging	Het
Trim5	T	C	7: 103,928,569 (GRCm39)	H124R	probably damaging	Het
Trim67	T	A	8: 125,547,024 (GRCm39)	L478Q	probably damaging	Het
Triml2	A	G	8: 43,646,357 (GRCm39)	D282G	probably damaging	Het
Txndc11	T	C	16: 10,905,793 (GRCm39)	Y579C	probably damaging	Het
Ube3c	T	A	5: 29,824,629 (GRCm39)	D551E	probably damaging	Het
Vmn1r194	T	C	13: 22,428,767 (GRCm39)	V128A	not run	Het
Vmn2r130	T	A	17: 23,296,006 (GRCm39)	D725E	probably damaging	Het
Vmn2r70	T	G	7: 85,218,130 (GRCm39)	N56T	probably damaging	Het
Wdr95	T	C	5: 149,517,945 (GRCm39)	V501A	possibly damaging	Het
Zc3h8	T	C	2: 128,772,742 (GRCm39)	T249A	probably damaging	Het
Zfp54	T	C	17: 21,654,501 (GRCm39)	C332R	probably damaging	Het

Other mutations in Mep1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Mep1a	APN	17	43,789,975 (GRCm39)	missense	probably benign	0.00
IGL02814:Mep1a	APN	17	43,788,112 (GRCm39)	missense	probably benign
IGL03000:Mep1a	APN	17	43,785,881 (GRCm39)	missense	probably benign
IGL03335:Mep1a	APN	17	43,788,064 (GRCm39)	missense	possibly damaging	0.63
IGL03410:Mep1a	APN	17	43,788,986 (GRCm39)	splice site	probably null
PIT4544001:Mep1a	UTSW	17	43,793,178 (GRCm39)	missense	probably damaging	1.00
R0127:Mep1a	UTSW	17	43,808,777 (GRCm39)	splice site	probably benign
R0306:Mep1a	UTSW	17	43,813,534 (GRCm39)	splice site	probably benign
R0329:Mep1a	UTSW	17	43,808,789 (GRCm39)	critical splice donor site	probably null
R0330:Mep1a	UTSW	17	43,808,789 (GRCm39)	critical splice donor site	probably null
R0358:Mep1a	UTSW	17	43,789,841 (GRCm39)	missense	possibly damaging	0.92
R0667:Mep1a	UTSW	17	43,789,081 (GRCm39)	missense	probably benign	0.06
R1101:Mep1a	UTSW	17	43,802,584 (GRCm39)	missense	probably benign	0.03
R1458:Mep1a	UTSW	17	43,802,563 (GRCm39)	missense	probably damaging	1.00
R1525:Mep1a	UTSW	17	43,802,527 (GRCm39)	missense	probably damaging	1.00
R1992:Mep1a	UTSW	17	43,813,573 (GRCm39)	missense	probably benign
R2014:Mep1a	UTSW	17	43,808,797 (GRCm39)	missense	probably benign	0.01
R2212:Mep1a	UTSW	17	43,788,154 (GRCm39)	missense	probably benign	0.02
R3946:Mep1a	UTSW	17	43,785,932 (GRCm39)	nonsense	probably null
R4400:Mep1a	UTSW	17	43,785,897 (GRCm39)	missense	possibly damaging	0.77
R4598:Mep1a	UTSW	17	43,802,469 (GRCm39)	critical splice donor site	probably null
R4616:Mep1a	UTSW	17	43,797,132 (GRCm39)	missense	possibly damaging	0.81
R4688:Mep1a	UTSW	17	43,793,139 (GRCm39)	missense	possibly damaging	0.89
R5085:Mep1a	UTSW	17	43,789,035 (GRCm39)	missense	probably damaging	0.99
R5355:Mep1a	UTSW	17	43,788,037 (GRCm39)	missense	probably damaging	0.98
R5832:Mep1a	UTSW	17	43,789,055 (GRCm39)	missense	probably benign	0.27
R5833:Mep1a	UTSW	17	43,789,055 (GRCm39)	missense	probably benign	0.27
R5834:Mep1a	UTSW	17	43,789,055 (GRCm39)	missense	probably benign	0.27
R5835:Mep1a	UTSW	17	43,789,055 (GRCm39)	missense	probably benign	0.27
R6280:Mep1a	UTSW	17	43,813,283 (GRCm39)	missense	probably damaging	1.00
R6340:Mep1a	UTSW	17	43,790,124 (GRCm39)	missense	probably benign	0.00
R6340:Mep1a	UTSW	17	43,789,949 (GRCm39)	missense	probably benign	0.00
R6934:Mep1a	UTSW	17	43,793,121 (GRCm39)	missense	probably damaging	0.99
R7247:Mep1a	UTSW	17	43,785,995 (GRCm39)	missense	possibly damaging	0.67
R7685:Mep1a	UTSW	17	43,790,065 (GRCm39)	missense	probably benign	0.00
R7703:Mep1a	UTSW	17	43,788,997 (GRCm39)	missense	possibly damaging	0.69
R7871:Mep1a	UTSW	17	43,790,126 (GRCm39)	missense	probably benign	0.33
R8131:Mep1a	UTSW	17	43,813,558 (GRCm39)	missense	probably benign	0.00
R8783:Mep1a	UTSW	17	43,789,081 (GRCm39)	missense	probably benign	0.00
R8880:Mep1a	UTSW	17	43,808,808 (GRCm39)	missense	possibly damaging	0.46
R9448:Mep1a	UTSW	17	43,805,869 (GRCm39)	critical splice acceptor site	probably null
R9455:Mep1a	UTSW	17	43,805,867 (GRCm39)	missense	probably benign	0.00
RF010:Mep1a	UTSW	17	43,797,126 (GRCm39)	missense	probably damaging	0.99
Z1088:Mep1a	UTSW	17	43,802,487 (GRCm39)	missense	probably damaging	1.00
Z1176:Mep1a	UTSW	17	43,788,211 (GRCm39)	missense	probably benign	0.08
Z1177:Mep1a	UTSW	17	43,797,197 (GRCm39)	missense	probably damaging	1.00
Z1177:Mep1a	UTSW	17	43,797,188 (GRCm39)	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