Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Mep1a'

608143

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

045923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43785215-43813703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43790126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 408 (N408D)

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: N408D

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: N408D

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

possibly damaging
Transcript: ENSMUST00000117137
AA Change: N395D

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: N395D

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: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccnh	T	A	13: 85,359,991 (GRCm39)	Y297*	probably null	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,429 (GRCm39)	H280R	not run	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stx5a	T	A	19: 8,732,482 (GRCm39)	W384R	unknown	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,757,164 (GRCm39)	M1157L	probably benign	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	probably damaging	Het
Zfp709	A	G	8: 72,643,308 (GRCm39)	I246V	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
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'- ACACCGTAACCCTCAGAATTGTAG -3'
(R):5'- CACAAGTGACTGGGCAAAGC -3'

Sequencing Primer
(F):5'- TTGTAGAACCGAGGGCTCAC -3'
(R):5'- CCACCATGAAGAGTGAAG -3'

Posted On

2019-12-20