Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Mep1a'

563648

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

045310-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43785215-43813703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43785995 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 711 (V711D)

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: V711D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: V711D

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: V698D

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: V698D

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: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marchf4	G	T	1: 72,491,637 (GRCm39)	Y211*	probably null	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
R7660:Mep1a	UTSW	17	43,789,868 (GRCm39)	missense	probably benign	0.29
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'- TTCTGACCACAGGAAGGAAAGTC -3'
(R):5'- AGAATGGCGCAATGATAGCCC -3'

Sequencing Primer
(F):5'- AAAGTCTGGGTGGACATCCGC -3'
(R):5'- ATGATAGCCCCCTACCTCATTAG -3'

Posted On

2019-06-26