Mutagenetix > Incidental Mutation

Incidental Mutation 'R6340:Mep1a'

513901

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

044494-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43479233 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 395 (N395K)

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: N408K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: N408K

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: N395K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: N395K

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: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (41/42)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	C	T	1: 34,732,223	L1204F	probably damaging	Het
Atp9b	T	C	18: 80,778,900	D495G	probably benign	Het
B020011L13Rik	G	A	1: 117,801,884	V374I	probably benign	Het
Babam1	T	A	8: 71,402,805	V214D	probably damaging	Het
Chpf2	T	C	5: 24,591,775	V573A	probably damaging	Het
Elmo3	T	A	8: 105,306,747	I115N	probably damaging	Het
Emc1	T	A	4: 139,365,563	Y564N	probably damaging	Het
Fam180a	A	C	6: 35,315,387	L28R	probably damaging	Het
Fiz1	C	T	7: 5,008,401	A373T	possibly damaging	Het
Fnip2	A	G	3: 79,507,845	F243L	probably damaging	Het
Gabra5	A	T	7: 57,413,748	N309K	probably damaging	Het
Gm17654	A	G	14: 43,578,077	L91P	unknown	Het
Gm19684	G	A	17: 36,127,510		probably null	Het
Gm9376	A	T	14: 118,267,257	M34L	unknown	Het
Hmgcr	A	G	13: 96,665,858	F106S	probably damaging	Het
Hydin	T	G	8: 110,354,942		probably null	Het
Igf2bp3	A	G	6: 49,214,459	Y5H	probably damaging	Het
Igsf11	A	G	16: 39,008,974	T77A	probably benign	Het
Il20	A	G	1: 130,908,381	Y142H	probably benign	Het
Macf1	A	T	4: 123,448,249	D2160E	probably benign	Het
Melk	A	G	4: 44,340,633	Y310C	probably damaging	Het
Mnt	A	G	11: 74,836,416	K43E	probably damaging	Het
Nrap	A	G	19: 56,347,184	I853T	probably damaging	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr341	T	C	2: 36,480,020	T37A	probably benign	Het
Olfr933	T	G	9: 38,975,766	L30R	probably damaging	Het
Pdia4	A	G	6: 47,801,018	S347P	probably benign	Het
Pkd1l1	T	G	11: 8,844,649	Q1837H	probably benign	Het
Pramef6	T	C	4: 143,897,307	N99S	possibly damaging	Het
Pygo1	T	A	9: 72,945,429	N299K	probably damaging	Het
Sirpb1b	A	T	3: 15,548,665	V52E	probably damaging	Het
Tdrd7	T	A	4: 45,994,517	I305N	probably damaging	Het
Trav14-1	T	C	14: 53,554,498	S102P	probably damaging	Het
Tsga10	C	A	1: 37,835,185		probably benign	Het
Uso1	T	A	5: 92,199,852	H837Q	probably benign	Het
Vmn2r82	A	T	10: 79,395,893	R575S	probably benign	Het
Yae1d1	C	A	13: 17,993,276	A11S	probably benign	Het
Zfp277	A	G	12: 40,318,549	I459T	possibly damaging	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
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'- ATTGTAGAACCGAGGGCTCAC -3'
(R):5'- ACAGCTGTGGATGCTAACC -3'

Sequencing Primer
(F):5'- ACGAGCTTGTCCCCTTTCACTG -3'
(R):5'- CCTTAAATATCACAAGTGACTGGGC -3'

Posted On

2018-04-27