Mutagenetix > Incidental Mutation

Incidental Mutation 'R8131:Mep1a'

632041

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

067560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43474324-43502812 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43502667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 31 (I31L)

Ref Sequence

ENSEMBL: ENSMUSP00000024707 (fasta)

Gene Model

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

AlphaFold

P28825

Predicted Effect

probably benign
Transcript: ENSMUST00000024707
AA Change: I31L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: I31L

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: I18L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: I18L

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

Meta Mutation Damage Score

0.0939

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

100% (50/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,616,008		probably null	Het
Abcb10	C	T	8: 123,965,018	A403T		Het
Acan	C	T	7: 79,091,338	P484L	possibly damaging	Het
Amotl2	T	A	9: 102,720,416	Y125N	probably damaging	Het
Apaf1	C	A	10: 91,077,558	V168F	possibly damaging	Het
Arhgap32	C	T	9: 32,247,130	H154Y	probably damaging	Het
B4galnt3	A	G	6: 120,294,385		probably null	Het
Bahcc1	C	T	11: 120,272,838	A654V	probably benign	Het
BC005561	A	G	5: 104,521,161	E1183G	possibly damaging	Het
Bcl11b	T	A	12: 107,965,708	M202L	probably benign	Het
Cdc40	C	A	10: 40,841,477	R406L	possibly damaging	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Col26a1	T	C	5: 136,747,040	D353G	probably benign	Het
Col6a5	T	A	9: 105,901,616	Q1682L	unknown	Het
Cul9	C	T	17: 46,511,242	G1819D	probably damaging	Het
Cyp2b10	C	T	7: 25,914,817	Q239*	probably null	Het
Dthd1	T	A	5: 62,842,916	I527N	probably damaging	Het
Dzip3	C	T	16: 48,933,793		probably null	Het
Ecm2	A	G	13: 49,518,464	E147G	probably benign	Het
Ercc6l2	C	T	13: 63,834,747	T132M	probably damaging	Het
Esf1	G	A	2: 140,148,831	Q578*	probably null	Het
Gm15448	T	A	7: 3,822,162	R494*	probably null	Het
Gria4	C	T	9: 4,502,429	R368H	probably benign	Het
Hps5	T	C	7: 46,771,888	D717G	probably benign	Het
Hrh1	A	T	6: 114,480,292	D178V	probably benign	Het
Inppl1	T	C	7: 101,830,061	N537S	possibly damaging	Het
Itih1	T	C	14: 30,941,564	Y165C	probably damaging	Het
Krt71	T	A	15: 101,734,706	I456F	possibly damaging	Het
Larp4	T	C	15: 99,994,689	V255A	probably damaging	Het
Lrriq1	T	G	10: 103,215,711	R393S	possibly damaging	Het
Muc5b	C	T	7: 141,842,409	T134I	unknown	Het
Neurl4	T	C	11: 69,909,241	Y1052H	probably benign	Het
Nlrc5	C	G	8: 94,481,792	N755K	probably damaging	Het
Nrde2	T	C	12: 100,142,243	K363R	probably benign	Het
Pcdhb12	T	C	18: 37,437,282	S494P	possibly damaging	Het
Pcnx	C	A	12: 81,918,518	S486R	possibly damaging	Het
Plrg1	T	A	3: 83,069,774	V374E	probably damaging	Het
Plxnb2	A	G	15: 89,158,713	I1491T	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scn4a	T	C	11: 106,341,541	E490G	probably benign	Het
Sec16a	A	G	2: 26,410,946	V887A		Het
Serpina3a	T	C	12: 104,116,208	I80T	probably damaging	Het
Setd1b	A	T	5: 123,143,380	I66F	unknown	Het
Slirp	T	A	12: 87,447,658		probably null	Het
Socs6	A	C	18: 88,870,045	S249A	probably benign	Het
Ttn	A	T	2: 76,785,733	I16622N	probably damaging	Het
Uox	A	T	3: 146,625,834	T237S	probably damaging	Het
Vmn2r43	T	A	7: 8,255,327	I296L	probably benign	Het
Vmn2r74	T	A	7: 85,952,735	D565V	probably benign	Het
Vps13b	T	C	15: 35,372,109		probably null	Het
Vps13d	A	G	4: 145,156,137	V962A		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
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
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'- CTGTATCGTGATCTGCCAAAAG -3'
(R):5'- CGCGTACTAAGAGGCACAGTATC -3'

Sequencing Primer
(F):5'- CTGTTGTTGAAGAAAACTTAAGCC -3'
(R):5'- GTATCCACAGCACGGTCAAAGTTTG -3'

Posted On

2020-06-30