Mutagenetix > Incidental Mutation

Incidental Mutation 'R5834:Mep1a'

449508

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

044055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5834 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 43478164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 574 (H574Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably benign
Transcript: ENSMUST00000024707
AA Change: H587Y

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: H587Y

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: H574Y

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: H574Y

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	A	8: 105,282,123	Q421*	probably null	Het
Abca13	T	C	11: 9,277,974		probably null	Het
Adamts20	A	C	15: 94,353,584	S441A	probably damaging	Het
Aen	T	A	7: 78,907,301	M299K	probably damaging	Het
Akap3	T	C	6: 126,865,833	S472P	probably benign	Het
Ank3	T	G	10: 69,822,257	V158G	probably damaging	Het
Arfgap1	A	G	2: 180,981,162	D324G	probably benign	Het
Aste1	A	T	9: 105,403,415	R448S	probably benign	Het
Atp10a	T	A	7: 58,658,618	L55Q	probably benign	Het
C1qtnf9	G	A	14: 60,779,450	G143D	probably damaging	Het
Camsap2	A	G	1: 136,280,388	V1122A	probably benign	Het
Cbl	T	C	9: 44,233,779	H37R	probably damaging	Het
Cfap61	A	C	2: 146,129,149	D893A	probably benign	Het
Chd2	T	A	7: 73,478,715	I841F	probably damaging	Het
Chd9	A	G	8: 90,997,164	T622A	probably damaging	Het
Cntnap3	A	G	13: 64,748,577	Y1028H	probably benign	Het
Crybg2	A	G	4: 134,074,123	T865A	probably benign	Het
Cyp2c55	A	G	19: 39,042,067	I448V	probably benign	Het
Cyth1	T	A	11: 118,192,463		probably null	Het
Dcaf13	C	T	15: 39,143,642	R324*	probably null	Het
Dhx37	C	A	5: 125,425,730	R42L	probably damaging	Het
Dock1	T	A	7: 134,763,933	V450E	probably damaging	Het
Ednrb	A	G	14: 103,820,877	L330P	probably damaging	Het
Eml4	T	A	17: 83,477,741	H778Q	probably damaging	Het
Evx1	T	A	6: 52,315,990	I227N	probably damaging	Het
G3bp1	T	A	11: 55,497,940	V326E	probably benign	Het
Gata2	T	C	6: 88,200,747	V253A	probably benign	Het
Gbp2	A	G	3: 142,633,377	N397D	probably damaging	Het
Gm14401	C	A	2: 177,086,903	H261N	probably benign	Het
Hacd4	A	T	4: 88,398,152	H243Q	probably benign	Het
Hsd3b1	C	A	3: 98,852,939	K245N	possibly damaging	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ift27	A	T	15: 78,165,243	C86S	probably damaging	Het
Iqgap2	C	T	13: 95,675,372	R707H	probably damaging	Het
Irs3	T	A	5: 137,644,559	S206C	probably damaging	Het
Lefty2	C	T	1: 180,893,151		probably benign	Het
Mark3	A	G	12: 111,624,487	I162V	probably damaging	Het
Mefv	A	C	16: 3,716,046	D120E	probably damaging	Het
Mre11a	A	G	9: 14,799,657	I45V	probably benign	Het
Mtor	A	G	4: 148,536,536	N1797S	possibly damaging	Het
Nav1	A	C	1: 135,532,406	M393R	probably benign	Het
Nod2	T	C	8: 88,664,639	S510P	possibly damaging	Het
Nos2	C	T	11: 78,928,579	T39I	probably benign	Het
Olfr474	T	A	7: 107,954,906	H88Q	probably benign	Het
Olfr93	A	T	17: 37,151,799	Y58N	probably damaging	Het
Pcdh7	A	G	5: 57,721,628	S842G	possibly damaging	Het
Pcdha11	T	C	18: 37,012,623	V589A	probably damaging	Het
Plaa	A	C	4: 94,583,469	V10G	probably damaging	Het
Pprc1	T	A	19: 46,065,220		probably benign	Het
Ptprt	T	C	2: 161,560,269	Y994C	probably damaging	Het
Ripply2	T	A	9: 87,015,890	W37R	probably damaging	Het
Rpgrip1	A	G	14: 52,158,382	D1227G	probably damaging	Het
Scoc	C	T	8: 83,437,631	D10N	possibly damaging	Het
Sdk2	A	T	11: 113,854,273	I732N	probably damaging	Het
Six2	T	C	17: 85,687,664	K97E	probably damaging	Het
Slit2	A	C	5: 48,259,647	N1014H	probably damaging	Het
Smc1b	A	C	15: 85,089,665	L930R	probably damaging	Het
Spag16	T	A	1: 69,923,714	M340K	probably benign	Het
Spata31	C	T	13: 64,922,666	S876L	probably benign	Het
Spen	A	G	4: 141,471,843	Y3135H	possibly damaging	Het
Spta1	A	T	1: 174,184,797		probably null	Het
Stk3	G	A	15: 34,959,018	T336I	probably damaging	Het
Tas2r118	T	A	6: 23,969,877	T62S	probably benign	Het
Tmprss11d	A	G	5: 86,306,310	M212T	probably damaging	Het
Trpc7	A	G	13: 56,776,158	L738P	probably damaging	Het
Ttll8	A	G	15: 88,917,246	V413A	possibly damaging	Het
Usb1	G	A	8: 95,333,533		probably benign	Het
Vmn1r238	T	C	18: 3,123,168	E82G	probably benign	Het
Vmn2r114	T	C	17: 23,310,625	T168A	possibly damaging	Het
Vmn2r60	C	A	7: 42,116,508	P13H	probably benign	Het
Wdr26	A	G	1: 181,203,147	L194P	probably damaging	Het
Zfhx2	G	A	14: 55,073,330	Q636*	probably null	Het
Zfyve26	A	G	12: 79,266,537	Y25H	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
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'- AATTCTGGTTTCTCTCAGGGAG -3'
(R):5'- GCCCTTCATGCTCATAAAAGAC -3'

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

Posted On

2016-12-20