Mutagenetix > Incidental Mutation

Incidental Mutation 'R6056:Mbtps1'

484408

Institutional Source

Beutler Lab

Gene Symbol

Mbtps1

Ensembl Gene

ENSMUSG00000031835

Gene Name

membrane-bound transcription factor peptidase, site 1

Synonyms

subtilisin/kexin isozyme-1, SKI-1, site-1 protease, S1P, 0610038M03Rik

MMRRC Submission

044223-MU

Accession Numbers

ENSMUST00000098362; MGI: 1927235

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119508156-119558735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119515602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 894 (L894V)

Ref Sequence

ENSEMBL: ENSMUSP00000095965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081381] [ENSMUST00000098362]

AlphaFold

Q9WTZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000081381
AA Change: L894V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: L894V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Peptidase_S8	209	464	1.5e-43	PFAM
transmembrane domain	1000	1022	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098362
AA Change: L894V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: L894V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Peptidase_S8	213	473	3.7e-45	PFAM
transmembrane domain	1000	1022	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212082

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212736

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

96% (99/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele die prior to implantation. Mice homozygous for an ENU-induced allele exhibit hypopigmentation, reduced female fertility, altered lipid homeostasis, and increased susceptibility to induced colitis. [provided by MGI curators]

Allele List at MGI

All alleles(38) : Targeted(3) Gene trapped(34) Chemically induced(1)

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,942,878 (GRCm38)	W162R	probably benign	Het
2610507B11Rik	C	A	11: 78,271,384 (GRCm38)	L691I	possibly damaging	Het
4930438A08Rik	C	A	11: 58,293,638 (GRCm38)	P394H	probably damaging	Het
Aggf1	C	T	13: 95,371,615 (GRCm38)	C81Y	probably benign	Het
Agxt2	A	T	15: 10,378,877 (GRCm38)	D188V	probably damaging	Het
Angpt2	T	C	8: 18,698,116 (GRCm38)	K376R	probably benign	Het
Anxa5	A	G	3: 36,450,691 (GRCm38)	S241P	probably damaging	Het
Aox3	A	T	1: 58,169,859 (GRCm38)	K850N	probably damaging	Het
Arid5a	T	C	1: 36,319,392 (GRCm38)	M415T	probably benign	Het
Aspa	T	A	11: 73,308,752 (GRCm38)	N233I	probably damaging	Het
Atp4b	C	T	8: 13,388,782 (GRCm38)	R198Q	probably damaging	Het
Atp8b2	A	T	3: 89,946,221 (GRCm38)	V719E	possibly damaging	Het
Cacna1s	T	G	1: 136,105,836 (GRCm38)	V1017G	probably damaging	Het
Chrna4	G	T	2: 181,029,442 (GRCm38)	Q174K	probably damaging	Het
Chrnb1	A	T	11: 69,786,939 (GRCm38)	V329D	probably damaging	Het
Chst14	T	C	2: 118,927,733 (GRCm38)	L336P	probably damaging	Het
Clec2e	T	C	6: 129,100,809 (GRCm38)	D22G	probably benign	Het
Csrnp2	A	C	15: 100,482,382 (GRCm38)	S343A	probably benign	Het
Dapl1	C	A	2: 59,484,713 (GRCm38)	A2E	probably damaging	Het
Dlec1	G	T	9: 119,121,923 (GRCm38)	R519L	probably damaging	Het
Dmgdh	T	A	13: 93,708,743 (GRCm38)	F415I	possibly damaging	Het
Dmgdh	T	C	13: 93,752,326 (GRCm38)	V824A	probably damaging	Het
Dnah11	T	G	12: 117,928,456 (GRCm38)	T3661P	probably benign	Het
Dnah3	A	G	7: 120,030,031 (GRCm38)	F1434L	probably damaging	Het
Dnajc11	C	A	4: 151,978,126 (GRCm38)		probably benign	Het
Dot1l	A	G	10: 80,786,095 (GRCm38)	E527G	probably damaging	Het
Drc7	T	C	8: 95,075,051 (GRCm38)	L680P	probably damaging	Het
Dysf	T	C	6: 84,106,862 (GRCm38)	Y742H	probably benign	Het
Ece1	A	G	4: 137,961,647 (GRCm38)	Y665C	probably damaging	Het
Emc1	A	G	4: 139,354,222 (GRCm38)	K54E	possibly damaging	Het
Enoph1	C	T	5: 100,067,901 (GRCm38)	T247M	probably damaging	Het
Exoc2	T	C	13: 30,900,829 (GRCm38)	K383R	probably benign	Het
Fam227b	A	T	2: 126,121,052 (GRCm38)	H181Q	probably damaging	Het
Fsip2	A	T	2: 82,985,673 (GRCm38)	M3917L	probably benign	Het
Gtf3a	T	A	5: 146,955,528 (GRCm38)		probably benign	Het
Hgfac	T	A	5: 35,041,629 (GRCm38)	C11*	probably null	Het
Hmcn1	C	A	1: 150,663,909 (GRCm38)	A2944S	probably damaging	Het
Hps5	T	A	7: 46,767,097 (GRCm38)	Y947F	probably benign	Het
Ighv2-5	A	T	12: 113,685,500 (GRCm38)	I111K	probably benign	Het
Inpp5e	A	T	2: 26,407,848 (GRCm38)	L247*	probably null	Het
Kbtbd11	T	C	8: 15,027,577 (GRCm38)	S59P	probably benign	Het
Kctd19	G	A	8: 105,396,450 (GRCm38)	H111Y	probably damaging	Het
Kif1a	T	C	1: 93,024,648 (GRCm38)	D1303G	probably damaging	Het
Kif7	A	G	7: 79,714,094 (GRCm38)	V22A	possibly damaging	Het
Lrit3	A	T	3: 129,789,355 (GRCm38)	C328S	probably damaging	Het
Lrrc37a	G	T	11: 103,497,658 (GRCm38)	Q2314K	unknown	Het
Lurap1	G	T	4: 116,137,402 (GRCm38)	P211T	possibly damaging	Het
Mbd2	T	A	18: 70,580,803 (GRCm38)	N5K	possibly damaging	Het
Mefv	G	A	16: 3,708,042 (GRCm38)	S787F	possibly damaging	Het
Miip	T	A	4: 147,862,335 (GRCm38)	I289F	probably damaging	Het
Mogat2	T	A	7: 99,223,513 (GRCm38)	I155F	possibly damaging	Het
Mpp3	C	A	11: 102,011,689 (GRCm38)		probably null	Het
Mrrf	A	G	2: 36,177,221 (GRCm38)	K220E	probably damaging	Het
Mtmr6	C	T	14: 60,298,170 (GRCm38)	P485L	probably damaging	Het
Mtor	G	A	4: 148,537,435 (GRCm38)	R1896K	probably benign	Het
Myh3	C	T	11: 67,087,545 (GRCm38)	P453S	probably benign	Het
Nebl	A	G	2: 17,450,234 (GRCm38)	V112A	probably benign	Het
Nmnat2	G	A	1: 153,074,734 (GRCm38)	W55*	probably null	Het
Nprl3	A	G	11: 32,267,432 (GRCm38)	S37P	probably damaging	Het
Olfr1246	T	C	2: 89,591,101 (GRCm38)	N5D	possibly damaging	Het
Oraov1	G	T	7: 144,915,286 (GRCm38)	V17L	possibly damaging	Het
Pcdhga4	T	G	18: 37,686,330 (GRCm38)	S311A	probably benign	Het
Pcdhgb6	T	C	18: 37,743,112 (GRCm38)	V291A	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm38)		probably benign	Het
Peg3	T	C	7: 6,709,571 (GRCm38)	E884G	probably damaging	Het
Pgpep1	G	A	8: 70,652,451 (GRCm38)	T53M	probably damaging	Het
Phf12	A	G	11: 78,009,515 (GRCm38)	T146A	probably benign	Het
Polr3k	C	G	2: 181,864,488 (GRCm38)	N10K	probably damaging	Het
Prickle4	C	A	17: 47,690,210 (GRCm38)	G144C	probably damaging	Het
Ptpn6	T	C	6: 124,732,435 (GRCm38)	Y25C	probably damaging	Het
Rad1	A	G	15: 10,488,074 (GRCm38)	I95V	probably damaging	Het
Rad23b	A	G	4: 55,382,540 (GRCm38)	T248A	probably benign	Het
Rapgef3	T	C	15: 97,758,861 (GRCm38)	D299G	probably damaging	Het
Rcc2	T	G	4: 140,717,024 (GRCm38)	V342G	possibly damaging	Het
Rgs3	G	T	4: 62,625,906 (GRCm38)	R136L	probably damaging	Het
Scube2	A	T	7: 109,833,013 (GRCm38)	C399*	probably null	Het
Serpinb3d	T	C	1: 107,079,722 (GRCm38)	Y178C	probably damaging	Het
Slc1a7	A	G	4: 108,012,261 (GRCm38)	T508A	probably benign	Het
Slc29a4	C	T	5: 142,720,077 (GRCm38)	R439C	probably damaging	Het
Sntg2	A	G	12: 30,312,561 (GRCm38)	I62T	probably benign	Het
Sowaha	G	A	11: 53,479,087 (GRCm38)	P274L	probably damaging	Het
Sptan1	A	G	2: 29,996,782 (GRCm38)	N869S	probably benign	Het
Stx18	C	A	5: 38,106,564 (GRCm38)	A64D	probably damaging	Het
Stxbp5	A	G	10: 9,770,686 (GRCm38)	V94A	probably benign	Het
Sult1a1	T	A	7: 126,676,452 (GRCm38)		probably null	Het
Susd1	G	T	4: 59,379,687 (GRCm38)	H313Q	possibly damaging	Het
Tdrd9	A	T	12: 111,985,041 (GRCm38)	K88N	probably damaging	Het
Tlr5	A	C	1: 182,974,038 (GRCm38)	R302S	possibly damaging	Het
Tnr	C	T	1: 159,886,909 (GRCm38)	T786I	probably damaging	Het
Tprgl	A	G	4: 154,160,095 (GRCm38)	S148P	probably damaging	Het
Trpc4ap	T	A	2: 155,671,074 (GRCm38)	N127I	probably damaging	Het
Tulp2	T	A	7: 45,490,373 (GRCm38)		probably null	Het
Uggt2	C	T	14: 119,035,969 (GRCm38)		probably null	Het
Ulk4	T	A	9: 121,272,955 (GRCm38)	Y19F	probably damaging	Het
Upf1	T	C	8: 70,333,037 (GRCm38)	Y1053C	probably damaging	Het
Vars2	A	T	17: 35,665,788 (GRCm38)	H223Q	probably benign	Het
Vmn2r106	T	A	17: 20,267,544 (GRCm38)		probably null	Het
Ythdc2	T	A	18: 44,840,210 (GRCm38)	F305I	probably damaging	Het
Zfp281	T	C	1: 136,625,440 (GRCm38)	F52S	possibly damaging	Het
Zfp292	A	T	4: 34,809,784 (GRCm38)	C1087S	probably damaging	Het
Zfp335	A	T	2: 164,895,098 (GRCm38)		probably null	Het

Other mutations in Mbtps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Muskrat	UTSW	8	119,538,137 (GRCm38)	missense	probably damaging	1.00
packrat	UTSW	8	119,528,961 (GRCm38)	missense	probably damaging	1.00
woodrat	UTSW	8	119,529,030 (GRCm38)	missense	probably damaging	1.00
R0194:Mbtps1	UTSW	8	119,535,369 (GRCm38)	missense	probably damaging	1.00
R0270:Mbtps1	UTSW	8	119,538,117 (GRCm38)	splice site	probably benign
R0485:Mbtps1	UTSW	8	119,522,601 (GRCm38)	splice site	probably benign
R1269:Mbtps1	UTSW	8	119,520,277 (GRCm38)	missense	probably damaging	1.00
R1351:Mbtps1	UTSW	8	119,518,162 (GRCm38)	missense	possibly damaging	0.95
R1536:Mbtps1	UTSW	8	119,546,125 (GRCm38)	missense	probably benign	0.01
R1542:Mbtps1	UTSW	8	119,546,247 (GRCm38)	splice site	probably null
R1543:Mbtps1	UTSW	8	119,542,069 (GRCm38)	splice site	probably benign
R1580:Mbtps1	UTSW	8	119,538,900 (GRCm38)	missense	possibly damaging	0.79
R1587:Mbtps1	UTSW	8	119,518,219 (GRCm38)	missense	probably damaging	0.96
R1715:Mbtps1	UTSW	8	119,542,730 (GRCm38)	missense	probably benign	0.40
R1845:Mbtps1	UTSW	8	119,522,493 (GRCm38)	missense	probably benign	0.13
R2147:Mbtps1	UTSW	8	119,538,859 (GRCm38)	missense	probably benign	0.01
R2157:Mbtps1	UTSW	8	119,542,727 (GRCm38)	missense	probably benign	0.01
R2416:Mbtps1	UTSW	8	119,538,917 (GRCm38)	missense	probably damaging	1.00
R2910:Mbtps1	UTSW	8	119,546,037 (GRCm38)	missense	possibly damaging	0.82
R2911:Mbtps1	UTSW	8	119,546,037 (GRCm38)	missense	possibly damaging	0.82
R3079:Mbtps1	UTSW	8	119,538,863 (GRCm38)	missense	probably damaging	1.00
R3079:Mbtps1	UTSW	8	119,531,205 (GRCm38)	missense	probably benign	0.40
R3080:Mbtps1	UTSW	8	119,538,863 (GRCm38)	missense	probably damaging	1.00
R3080:Mbtps1	UTSW	8	119,531,205 (GRCm38)	missense	probably benign	0.40
R4116:Mbtps1	UTSW	8	119,541,652 (GRCm38)	missense	probably benign	0.00
R4296:Mbtps1	UTSW	8	119,522,499 (GRCm38)	missense	possibly damaging	0.95
R4602:Mbtps1	UTSW	8	119,535,347 (GRCm38)	missense	probably damaging	1.00
R4603:Mbtps1	UTSW	8	119,535,347 (GRCm38)	missense	probably damaging	1.00
R4610:Mbtps1	UTSW	8	119,535,347 (GRCm38)	missense	probably damaging	1.00
R4611:Mbtps1	UTSW	8	119,535,347 (GRCm38)	missense	probably damaging	1.00
R4729:Mbtps1	UTSW	8	119,525,420 (GRCm38)	missense	probably damaging	1.00
R4868:Mbtps1	UTSW	8	119,508,928 (GRCm38)	missense	probably benign	0.01
R4893:Mbtps1	UTSW	8	119,518,193 (GRCm38)	missense	probably damaging	1.00
R4999:Mbtps1	UTSW	8	119,533,348 (GRCm38)	missense	probably damaging	1.00
R6062:Mbtps1	UTSW	8	119,531,091 (GRCm38)	missense	possibly damaging	0.94
R6237:Mbtps1	UTSW	8	119,528,961 (GRCm38)	missense	probably damaging	1.00
R6617:Mbtps1	UTSW	8	119,538,137 (GRCm38)	missense	probably damaging	1.00
R7215:Mbtps1	UTSW	8	119,524,568 (GRCm38)	missense	possibly damaging	0.82
R7275:Mbtps1	UTSW	8	119,542,750 (GRCm38)	missense	probably benign
R7794:Mbtps1	UTSW	8	119,538,884 (GRCm38)	missense	probably damaging	1.00
R8029:Mbtps1	UTSW	8	119,547,805 (GRCm38)	start gained	probably benign
R8104:Mbtps1	UTSW	8	119,529,055 (GRCm38)	missense	possibly damaging	0.85
R8205:Mbtps1	UTSW	8	119,520,338 (GRCm38)	missense	probably damaging	1.00
R8351:Mbtps1	UTSW	8	119,546,184 (GRCm38)	missense	probably benign	0.01
R8487:Mbtps1	UTSW	8	119,541,674 (GRCm38)	missense	probably damaging	1.00
R8753:Mbtps1	UTSW	8	119,508,862 (GRCm38)	missense	possibly damaging	0.94
R9155:Mbtps1	UTSW	8	119,508,954 (GRCm38)	missense	probably benign	0.06
R9168:Mbtps1	UTSW	8	119,521,863 (GRCm38)	missense	probably benign	0.01
R9172:Mbtps1	UTSW	8	119,533,369 (GRCm38)	missense	probably damaging	1.00
R9621:Mbtps1	UTSW	8	119,508,882 (GRCm38)	missense	possibly damaging	0.69
RF019:Mbtps1	UTSW	8	119,525,550 (GRCm38)	missense	probably damaging	1.00
X0017:Mbtps1	UTSW	8	119,531,124 (GRCm38)	missense	probably damaging	1.00
X0027:Mbtps1	UTSW	8	119,522,547 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGCCACAGTCTCTGT -3'
(R):5'- CTAAGCGGCTCACTTCTGAG -3'

Posted On

2017-07-14