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-1a, meprin A alpha-subunit, Mep1, meprin alpha, Mep-1

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

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 43491578 bp (GRCm38)

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: 11,747,964		probably null	Het
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Abcb7	A	C	X: 104,323,382	D135E	probably benign	Het
Ace	T	A	11: 105,981,759		probably null	Het
Acnat1	T	C	4: 49,450,781	D110G	probably benign	Het
Ak9	C	T	10: 41,383,911	P862S	probably damaging	Het
Atp1a3	A	G	7: 24,979,341	S972P	probably damaging	Het
Bmf	C	A	2: 118,549,128	A56S	probably benign	Het
C6	T	C	15: 4,763,370	L319P	possibly damaging	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cdc14b	T	C	13: 64,247,274	T69A	probably benign	Het
Cep162	A	G	9: 87,203,795	Y1159H	possibly damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clca3a2	A	T	3: 144,805,683	N41K	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Cyp3a57	A	G	5: 145,390,417	I473V	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dhx9	TCC	TC	1: 153,467,051		probably null	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Eif4e3	T	A	6: 99,640,710	I67L	probably benign	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Esp31	T	A	17: 38,641,121		probably null	Het
Esrp2	A	G	8: 106,132,711	M498T	probably damaging	Het
F5	T	C	1: 164,204,797	I1771T	probably benign	Het
Fancd2	C	A	6: 113,585,477	H1259Q	probably benign	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Kat2b	A	G	17: 53,670,798	Y791C	probably benign	Het
Kazn	A	G	4: 142,210,092	V108A	possibly damaging	Het
Kcnma1	T	C	14: 23,803,160	T109A	probably damaging	Het
Med13	T	C	11: 86,278,566	T1955A	probably damaging	Het
Megf10	G	A	18: 57,189,603		probably null	Het
Megf10	A	T	18: 57,287,812	S841C	probably damaging	Het
Mrap2	A	T	9: 87,182,789	E194D	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrip1	A	G	16: 76,293,080	F530L	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr1504	A	T	19: 13,888,017	H64Q	probably damaging	Het
Olfr676	A	C	7: 105,036,073	I292L	probably benign	Het
Olfr812	T	C	10: 129,842,995	T16A	possibly damaging	Het
Oxtr	C	T	6: 112,489,752	G16R	probably benign	Het
Pdgfrb	A	T	18: 61,068,757	K464N	probably benign	Het
Pja2	A	T	17: 64,313,030	M1K	probably null	Het
Pkhd1	A	T	1: 20,503,056	N1875K	probably damaging	Het
Pogz	T	C	3: 94,880,180	S1360P	possibly damaging	Het
Proc	A	T	18: 32,123,459	L385Q	probably damaging	Het
Ptprm	A	G	17: 67,095,497	I132T	probably benign	Het
Rpgr	A	G	X: 10,196,016	S343P	probably benign	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Scyl1	A	G	19: 5,770,453	S118P	probably damaging	Het
Sec61a1	T	C	6: 88,506,149	N414D	probably benign	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Sema7a	A	G	9: 57,953,551	D65G	probably benign	Het
Slc25a45	A	G	19: 5,884,436	Y144C	probably damaging	Het
Slc26a6	A	G	9: 108,856,380	Y103C	probably damaging	Het
Stat3	C	T	11: 100,903,674	D270N	probably damaging	Het
Taar8b	T	C	10: 24,091,838	S153G	probably benign	Het
Top1	A	G	2: 160,720,965	E697G	possibly damaging	Het
Trappc11	G	A	8: 47,513,766	T470I	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Usp29	A	G	7: 6,962,480	T441A	probably benign	Het
Vmn2r110	A	T	17: 20,583,767	L182*	probably null	Het
Zgrf1	T	C	3: 127,601,030	I1345T	probably benign	Het
Zscan25	G	T	5: 145,291,005	R493L	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
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'- AGGCTTTTATATCGAGCTTGAAC -3'
(R):5'- AAAGGTGCTGGTCTATGATTGG -3'

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

Posted On

2015-09-25