Mutagenetix > Incidental Mutation

Incidental Mutation 'R9448:Mep1a'

714096

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43785215-43813703 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 43805869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024707 (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 benign
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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,099,575 (GRCm39)	V685A	possibly damaging	Het
Atg9a	G	T	1: 75,162,849 (GRCm39)	T417K	probably benign	Het
Atp6v1a	T	A	16: 43,931,872 (GRCm39)	K139*	probably null	Het
Baz1b	T	C	5: 135,239,656 (GRCm39)	I252T	probably damaging	Het
Ccdc191	T	A	16: 43,759,338 (GRCm39)	W380R		Het
Cep290	T	G	10: 100,395,546 (GRCm39)	V2118G	probably benign	Het
Crb2	A	G	2: 37,677,773 (GRCm39)	D352G	probably benign	Het
Csmd3	T	C	15: 47,460,315 (GRCm39)	D2581G		Het
Diras2	T	A	13: 52,662,122 (GRCm39)	T62S	possibly damaging	Het
Dmrt1	T	C	19: 25,523,255 (GRCm39)	V202A	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dph7	A	T	2: 24,861,952 (GRCm39)	K455M	probably damaging	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Ehbp1	T	C	11: 22,087,881 (GRCm39)	N426S	probably benign	Het
Exo5	A	G	4: 120,778,888 (GRCm39)	W326R	probably damaging	Het
Fam149a	T	A	8: 45,792,411 (GRCm39)		probably null	Het
Flii	T	C	11: 60,606,393 (GRCm39)	N1099S	probably benign	Het
Flvcr1	T	C	1: 190,744,406 (GRCm39)	T381A	possibly damaging	Het
Foxl1	T	C	8: 121,855,608 (GRCm39)	V303A	probably benign	Het
Fsd1l	G	T	4: 53,694,826 (GRCm39)	E427*	probably null	Het
Galnt18	A	T	7: 111,153,649 (GRCm39)	I325N	probably damaging	Het
Gm5478	T	C	15: 101,553,662 (GRCm39)	N274S	probably damaging	Het
Grm7	A	T	6: 111,335,193 (GRCm39)	T535S	probably benign	Het
Heatr5b	T	C	17: 79,068,015 (GRCm39)	D1791G	probably benign	Het
Igkv12-98	T	C	6: 68,548,156 (GRCm39)	I95T	probably damaging	Het
Il1rl2	A	G	1: 40,366,604 (GRCm39)	Y46C	probably benign	Het
Inhca	G	T	9: 103,149,781 (GRCm39)	Q259K	probably benign	Het
Kdr	T	C	5: 76,102,569 (GRCm39)	E1186G	probably benign	Het
Knstrn	T	C	2: 118,644,975 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ltbp1	C	T	17: 75,666,455 (GRCm39)	Q1383*	probably null	Het
Mep1b	A	G	18: 21,217,199 (GRCm39)	D106G	probably damaging	Het
Moxd2	T	C	6: 40,864,160 (GRCm39)	N90S	probably benign	Het
Ms4a4c	T	A	19: 11,392,317 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,000,956 (GRCm39)	M84L	probably benign	Het
Noc2l	C	A	4: 156,320,781 (GRCm39)	R66S	probably benign	Het
Nox4	A	T	7: 87,045,001 (GRCm39)	L580F	unknown	Het
Numb	A	G	12: 83,888,990 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,221 (GRCm39)		probably benign	Het
Or5w13	A	T	2: 87,523,824 (GRCm39)	V134E	probably damaging	Het
Parp8	T	A	13: 117,039,360 (GRCm39)	K274*	probably null	Het
Pcdh1	G	A	18: 38,330,492 (GRCm39)	P976L	probably damaging	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Pdzk1	A	T	3: 96,761,922 (GRCm39)	D178V	probably damaging	Het
Phldb1	G	T	9: 44,622,546 (GRCm39)	L36M	possibly damaging	Het
Pip5k1c	A	G	10: 81,141,645 (GRCm39)	E111G	probably damaging	Het
Plcb4	G	A	2: 135,752,045 (GRCm39)	E84K	possibly damaging	Het
Prpf39	T	A	12: 65,108,034 (GRCm39)	Y646N	probably benign	Het
Psmc6	T	C	14: 45,568,483 (GRCm39)	F69L	probably benign	Het
Ptk2	T	A	15: 73,215,041 (GRCm39)	S46C	possibly damaging	Het
Ptpn6	G	A	6: 124,709,771 (GRCm39)	R23W	probably damaging	Het
Ptprb	T	A	10: 116,149,819 (GRCm39)	Y143*	probably null	Het
Qrich2	T	C	11: 116,338,091 (GRCm39)	E141G	probably benign	Het
Rsf1	G	GCCGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,381,127 (GRCm39)	L136P	probably damaging	Het
Slc12a6	T	C	2: 112,179,704 (GRCm39)	F676S	probably damaging	Het
Spata31f1a	A	T	4: 42,850,250 (GRCm39)	Y635*	probably null	Het
Spata31f1e	T	C	4: 42,793,440 (GRCm39)	R231G	probably benign	Het
Spata32	C	T	11: 103,099,648 (GRCm39)	G286R	probably damaging	Het
Tbx19	T	C	1: 164,981,090 (GRCm39)	K135E	probably damaging	Het
Tdrd6	T	C	17: 43,936,567 (GRCm39)	T1494A	probably benign	Het
Tmem62	A	C	2: 120,808,211 (GRCm39)	D71A	probably damaging	Het
Tnfsf15	A	T	4: 63,663,305 (GRCm39)	V6D	possibly damaging	Het
Tulp4	T	C	17: 6,248,948 (GRCm39)	V182A	possibly damaging	Het
Vmn2r73	A	T	7: 85,522,027 (GRCm39)	V104D	probably benign	Het
Zdhhc8	C	A	16: 18,039,558 (GRCm39)	G159C		Het
Zfy2	A	G	Y: 2,109,904 (GRCm39)	W338R	probably damaging	Het
Znfx1	T	G	2: 166,888,844 (GRCm39)	Q788P	probably benign	Het
Zscan26	A	G	13: 21,632,431 (GRCm39)	V100A	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
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
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
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'- TTGAGACTGCAAAGATAGCTCAAG -3'
(R):5'- AGGGTCAGACACCTTTAACTAC -3'

Sequencing Primer
(F):5'- CTCAAGAGCTAAGACTTGCTTTTG -3'
(R):5'- CGGTCAGTCCTCTGTATACT -3'

Posted On

2022-06-15