Mutagenetix > Incidental Mutation

Incidental Mutation 'R1525:Mep1a'

167815

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

040872-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1525 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43491636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 166 (Q166R)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably damaging
Transcript: ENSMUST00000024707
AA Change: Q179R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: Q179R

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 damaging
Transcript: ENSMUST00000117137
AA Change: Q166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: Q166R

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	C	A	5: 5,452,019	W144C	probably benign	Het
4931440F15Rik	A	C	11: 29,823,994	Y488D	probably benign	Het
Abcc3	A	T	11: 94,361,236	H840Q	probably benign	Het
Amotl2	C	T	9: 102,728,568	R540C	probably damaging	Het
Brpf1	A	G	6: 113,317,154	E605G	probably damaging	Het
Cacna2d3	T	C	14: 28,972,242	I865V	probably benign	Het
Cdh24	A	T	14: 54,638,589	F199I	probably damaging	Het
Cdk9	A	G	2: 32,710,509	V27A	probably damaging	Het
Cfap69	G	T	5: 5,640,230		probably null	Het
Cyp2d11	G	T	15: 82,389,297	L458I	probably damaging	Het
Dchs1	T	C	7: 105,758,931	E1898G	probably damaging	Het
Dennd4b	G	T	3: 90,270,870	L456F	probably damaging	Het
Dgat1	T	C	15: 76,511,586	T66A	probably benign	Het
Dock10	C	A	1: 80,606,164		probably null	Het
Fam110b	A	G	4: 5,799,578	D332G	possibly damaging	Het
Frmd4b	G	A	6: 97,296,386	P628S	probably damaging	Het
Ice1	A	T	13: 70,605,410	H852Q	probably benign	Het
Il17ra	T	C	6: 120,473,790	V116A	probably damaging	Het
Ints9	T	C	14: 64,995,011	I173T	probably benign	Het
Kctd14	A	T	7: 97,457,867	M110L	probably benign	Het
Krt6a	T	G	15: 101,694,202	Y16S	probably benign	Het
Lamc2	T	C	1: 153,130,756	N883S	probably benign	Het
Larp4b	C	T	13: 9,145,450	T195M	probably damaging	Het
Lrp1	A	G	10: 127,539,529	L4432P	probably damaging	Het
Mei4	T	C	9: 81,890,199	S22P	probably damaging	Het
Mroh2b	C	A	15: 4,951,130		probably null	Het
Myoc	T	G	1: 162,648,651	L308R	probably damaging	Het
Ndn	C	T	7: 62,348,508	P34L	probably benign	Het
Olfr1188	C	G	2: 88,559,641	S57R	probably damaging	Het
Olfr50	A	T	2: 36,794,143	R302S	probably null	Het
Olfr720	T	A	14: 14,175,725	Y119F	probably damaging	Het
Pdilt	T	A	7: 119,487,994	T478S	probably damaging	Het
Pias1	T	C	9: 62,920,487	K222E	probably damaging	Het
Prss16	A	C	13: 22,009,443	L61V	possibly damaging	Het
Pvr	G	A	7: 19,910,626	Q328*	probably null	Het
Ranbp3	A	G	17: 56,710,865	D481G	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,908		probably benign	Het
Ryr3	G	T	2: 112,678,090	D3419E	probably damaging	Het
Scn1a	C	T	2: 66,319,462	W946*	probably null	Het
Sh3pxd2a	T	C	19: 47,278,425	K242E	probably damaging	Het
Slc34a2	A	G	5: 53,069,506	D657G	probably benign	Het
Stard9	T	A	2: 120,702,052	I2930K	probably benign	Het
Syna	T	C	5: 134,559,258	D279G	probably benign	Het
Tfr2	T	C	5: 137,579,030	F415L	probably benign	Het
Tmem97	T	A	11: 78,542,760	Y103F	probably damaging	Het
Tmem97	A	T	11: 78,542,761	Y103N	probably damaging	Het
Txndc2	T	A	17: 65,638,315	D289V	probably damaging	Het
Zbtb1	T	G	12: 76,386,432	D397E	probably benign	Het
Zc3h18	T	C	8: 122,413,938	S847P	probably benign	Het
Zfp382	G	A	7: 30,133,719	G265E	probably damaging	Het
Zfp410	T	C	12: 84,322,966	L39S	probably damaging	Het
Zfp729a	G	T	13: 67,619,321	P930T	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
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
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'- ATCAGAGACTGACTCTCCTGTTCCC -3'
(R):5'- AGCTTTGAATGAGTCTGTGGCCC -3'

Sequencing Primer
(F):5'- CTGTTCCCAGACTCAGCC -3'
(R):5'- cactaagcaatctcccagcc -3'

Posted On

2014-04-13