Mutagenetix > Incidental Mutation

Incidental Mutation 'R4598:Mep1a'

345387

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

041814-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43785215-43813703 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 43802469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113838 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably null
Transcript: ENSMUST00000024707

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914

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 null
Transcript: ENSMUST00000117137

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 11,818,188 (GRCm39)		probably null	Het
Abca14	T	C	7: 119,854,626 (GRCm39)	V930A	probably benign	Het
Abcb7	A	C	X: 103,366,988 (GRCm39)	D135E	probably benign	Het
Ace	T	A	11: 105,872,585 (GRCm39)		probably null	Het
Acnat1	T	C	4: 49,450,781 (GRCm39)	D110G	probably benign	Het
Ak9	C	T	10: 41,259,907 (GRCm39)	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,678,766 (GRCm39)	S972P	probably damaging	Het
Bmf	C	A	2: 118,379,609 (GRCm39)	A56S	probably benign	Het
C6	T	C	15: 4,792,852 (GRCm39)	L319P	possibly damaging	Het
Cab39	A	G	1: 85,776,050 (GRCm39)	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,395,088 (GRCm39)	T69A	probably benign	Het
Cep162	A	G	9: 87,085,848 (GRCm39)	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 62,753,538 (GRCm39)	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,511,444 (GRCm39)	N41K	probably damaging	Het
Clock	T	C	5: 76,383,657 (GRCm39)	M499V	probably benign	Het
Col5a3	A	G	9: 20,685,855 (GRCm39)		probably null	Het
Coq6	T	C	12: 84,408,913 (GRCm39)	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,327,227 (GRCm39)	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,038,528 (GRCm39)	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,189,536 (GRCm39)	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,617,671 (GRCm39)	I67L	probably benign	Het
Epor	A	G	9: 21,873,155 (GRCm39)	S86P	probably benign	Het
Esp31	T	A	17: 38,952,012 (GRCm39)		probably null	Het
Esrp2	A	G	8: 106,859,343 (GRCm39)	M498T	probably damaging	Het
F5	T	C	1: 164,032,366 (GRCm39)	I1771T	probably benign	Het
Fancd2	C	A	6: 113,562,438 (GRCm39)	H1259Q	probably benign	Het
Gale	C	A	4: 135,695,148 (GRCm39)	S341*	probably null	Het
Ints12	T	A	3: 132,804,214 (GRCm39)	I67N	probably benign	Het
Kat2b	A	G	17: 53,977,826 (GRCm39)	Y791C	probably benign	Het
Kazn	A	G	4: 141,937,403 (GRCm39)	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,853,228 (GRCm39)	T109A	probably damaging	Het
Med13	T	C	11: 86,169,392 (GRCm39)	T1955A	probably damaging	Het
Megf10	G	A	18: 57,322,675 (GRCm39)		probably null	Het
Megf10	A	T	18: 57,420,884 (GRCm39)	S841C	probably damaging	Het
Mrap2	A	T	9: 87,064,842 (GRCm39)	E194D	probably damaging	Het
Msh2	A	G	17: 88,016,006 (GRCm39)	K546R	probably damaging	Het
Ndc80	T	C	17: 71,828,063 (GRCm39)	D88G	probably damaging	Het
Nrip1	A	G	16: 76,089,968 (GRCm39)	F530L	probably damaging	Het
Or2y10	T	C	11: 49,455,545 (GRCm39)	S266P	probably damaging	Het
Or52e7	A	C	7: 104,685,280 (GRCm39)	I292L	probably benign	Het
Or6c216	T	C	10: 129,678,864 (GRCm39)	T16A	possibly damaging	Het
Or9i16	A	T	19: 13,865,381 (GRCm39)	H64Q	probably damaging	Het
Oxtr	C	T	6: 112,466,713 (GRCm39)	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,201,829 (GRCm39)	K464N	probably benign	Het
Pja2	A	T	17: 64,620,025 (GRCm39)	M1K	probably null	Het
Pkhd1	A	T	1: 20,573,280 (GRCm39)	N1875K	probably damaging	Het
Pogz	T	C	3: 94,787,491 (GRCm39)	S1360P	possibly damaging	Het
Proc	A	T	18: 32,256,512 (GRCm39)	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,402,492 (GRCm39)	I132T	probably benign	Het
Rpgr	A	G	X: 10,062,255 (GRCm39)	S343P	probably benign	Het
Rsu1	T	C	2: 13,174,815 (GRCm39)	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,820,481 (GRCm39)	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,483,131 (GRCm39)	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,860,834 (GRCm39)	D65G	probably benign	Het
Slc25a45	A	G	19: 5,934,464 (GRCm39)	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,733,579 (GRCm39)	Y103C	probably damaging	Het
Stat3	C	T	11: 100,794,500 (GRCm39)	D270N	probably damaging	Het
Taar8b	T	C	10: 23,967,736 (GRCm39)	S153G	probably benign	Het
Top1	A	G	2: 160,562,885 (GRCm39)	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,966,801 (GRCm39)	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Usp29	A	G	7: 6,965,479 (GRCm39)	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,804,029 (GRCm39)	L182*	probably null	Het
Zgrf1	T	C	3: 127,394,679 (GRCm39)	I1345T	probably benign	Het
Zscan25	G	T	5: 145,227,815 (GRCm39)	R493L	probably benign	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
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
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'- AGGCTTTTATATCGAGCTTGAAC -3'
(R):5'- AAAGGTGCTGGTCTATGATTGG -3'

Sequencing Primer
(F):5'- TACTGATACAAAGCATACACATGGG -3'
(R):5'- TTGGTGATCAACAGGTGGGAC -3'

Posted On

2015-09-25