Mutagenetix > Incidental Mutation

Incidental Mutation 'R2157:Mbtps1'

234915

Institutional Source

Beutler Lab

Gene Symbol

Mbtps1

Ensembl Gene

ENSMUSG00000031835

Gene Name

membrane-bound transcription factor peptidase, site 1

Synonyms

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

MMRRC Submission

040160-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120234895-120285474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 120269466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 208 (T208K)

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: T208K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: T208K

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: T208K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: T208K

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: ENSMUST00000212244

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212813

Meta Mutation Damage Score

0.1471

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	T	8: 125,378,168 (GRCm39)		probably benign	Het
4930590J08Rik	T	A	6: 91,919,468 (GRCm39)	M709K	possibly damaging	Het
4930590J08Rik	A	G	6: 91,894,679 (GRCm39)		probably null	Het
A930011G23Rik	T	G	5: 99,379,956 (GRCm39)	I394L	probably damaging	Het
Abca13	A	C	11: 9,527,170 (GRCm39)	M4528L	probably damaging	Het
Abcb1b	G	A	5: 8,874,791 (GRCm39)	A484T	probably benign	Het
Actn1	A	T	12: 80,219,891 (GRCm39)	M660K	probably benign	Het
Adgra3	G	T	5: 50,159,283 (GRCm39)	N322K	possibly damaging	Het
Ahnak	A	G	19: 8,978,048 (GRCm39)	I56V	possibly damaging	Het
Amotl2	A	G	9: 102,607,788 (GRCm39)		probably benign	Het
Apoa1	T	C	9: 46,140,471 (GRCm39)	V34A	probably damaging	Het
Arrdc1	G	A	2: 24,816,987 (GRCm39)	A113V	probably damaging	Het
As3mt	A	G	19: 46,696,231 (GRCm39)	D13G	probably benign	Het
Cald1	A	G	6: 34,662,976 (GRCm39)	Q13R	possibly damaging	Het
Ccdc28a	G	A	10: 18,106,203 (GRCm39)	T41I	probably benign	Het
Ccdc30	A	T	4: 119,190,921 (GRCm39)		probably benign	Het
Cct2	T	C	10: 116,898,714 (GRCm39)		probably benign	Het
Cdh12	T	C	15: 21,583,873 (GRCm39)	I571T	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Ckm	T	C	7: 19,155,279 (GRCm39)	S372P	probably benign	Het
Comp	C	T	8: 70,832,220 (GRCm39)	Q554*	probably null	Het
Csf2ra	T	C	19: 61,215,509 (GRCm39)	T70A	probably benign	Het
Csmd3	T	C	15: 47,559,183 (GRCm39)	E2256G	probably damaging	Het
Dicer1	A	T	12: 104,669,208 (GRCm39)	V1158D	probably benign	Het
Dner	A	G	1: 84,361,659 (GRCm39)	F650S	possibly damaging	Het
Dnm3	T	C	1: 162,135,462 (GRCm39)	N437S	possibly damaging	Het
Dpy19l2	T	C	9: 24,592,076 (GRCm39)	I176V	probably benign	Het
Dpy19l2	A	T	9: 24,495,928 (GRCm39)	C597S	probably benign	Het
Edf1	T	C	2: 25,448,043 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Enpp3	A	G	10: 24,652,776 (GRCm39)	F727S	probably damaging	Het
Epb42	C	T	2: 120,852,243 (GRCm39)	M583I	probably benign	Het
Foxred1	A	G	9: 35,116,659 (GRCm39)	F117S	probably damaging	Het
Fstl5	T	A	3: 76,615,372 (GRCm39)	M811K	possibly damaging	Het
Gm5117	A	T	8: 32,228,222 (GRCm39)		noncoding transcript	Het
Gpm6a	T	C	8: 55,511,833 (GRCm39)	S236P	probably damaging	Het
Grik1	G	A	16: 87,853,012 (GRCm39)	A57V	probably damaging	Het
Hdgfl2	G	A	17: 56,405,691 (GRCm39)	V476I	possibly damaging	Het
Il17b	G	T	18: 61,823,439 (GRCm39)	W91L	probably damaging	Het
Jph4	C	A	14: 55,350,984 (GRCm39)	R344L	probably benign	Het
Map3k21	A	G	8: 126,664,005 (GRCm39)	D522G	probably benign	Het
Mast2	A	G	4: 116,179,480 (GRCm39)	L398S	probably damaging	Het
Mbtd1	A	G	11: 93,801,214 (GRCm39)	T132A	probably benign	Het
Mr1	A	G	1: 155,022,376 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,828,240 (GRCm39)	L140F	probably damaging	Het
Mybpc2	C	G	7: 44,159,269 (GRCm39)	D594H	possibly damaging	Het
Nalcn	T	C	14: 123,647,164 (GRCm39)	M570V	probably benign	Het
Ncam2	T	C	16: 81,287,277 (GRCm39)	I397T	probably damaging	Het
Ndufs4	C	T	13: 114,453,514 (GRCm39)	V75I	probably damaging	Het
Nek4	T	A	14: 30,701,925 (GRCm39)		probably null	Het
Nfatc1	G	T	18: 80,679,060 (GRCm39)	A762D	possibly damaging	Het
Nhsl3	C	T	4: 129,117,917 (GRCm39)	R249H	possibly damaging	Het
Npc1	A	G	18: 12,324,866 (GRCm39)	I1209T	probably damaging	Het
Or10k2	T	C	8: 84,268,250 (GRCm39)	I159T	probably benign	Het
Or4c11	A	T	2: 88,695,213 (GRCm39)	N88I	probably benign	Het
Pak5	T	C	2: 135,942,877 (GRCm39)	D421G	probably damaging	Het
Pias1	A	G	9: 62,820,112 (GRCm39)	V285A	possibly damaging	Het
Pigg	T	A	5: 108,466,755 (GRCm39)	I212N	probably damaging	Het
Plcd3	A	T	11: 102,961,974 (GRCm39)	C711S	probably benign	Het
Plscr5	G	A	9: 92,080,550 (GRCm39)	R12K	probably benign	Het
Plxna4	T	C	6: 32,493,909 (GRCm39)	I236V	probably benign	Het
Ppp1r26	T	C	2: 28,342,370 (GRCm39)	F667L	probably benign	Het
Prkx	A	G	X: 76,814,920 (GRCm39)	F247L	probably benign	Het
Qpct	G	A	17: 79,378,115 (GRCm39)	R95Q	probably benign	Het
Ralgapb	G	T	2: 158,279,392 (GRCm39)	M159I	probably benign	Het
Rnf145	T	C	11: 44,445,997 (GRCm39)	L277P	probably damaging	Het
Scn9a	A	G	2: 66,366,669 (GRCm39)	S705P	probably damaging	Het
Slc4a8	A	G	15: 100,704,254 (GRCm39)	T750A	probably damaging	Het
Slc66a1	A	T	4: 139,029,166 (GRCm39)	V106D	probably damaging	Het
Syne2	A	G	12: 76,141,230 (GRCm39)	E6114G	probably damaging	Het
Tat	T	C	8: 110,724,236 (GRCm39)	M375T	probably damaging	Het
Tex10	C	T	4: 48,436,522 (GRCm39)		probably benign	Het
Tmprss11e	T	C	5: 86,861,587 (GRCm39)	K320E	probably benign	Het
Tnr	T	C	1: 159,685,840 (GRCm39)	I357T	probably damaging	Het
Vmn1r229	A	T	17: 21,035,638 (GRCm39)	R294S	possibly damaging	Het
Vmn2r116	G	A	17: 23,620,443 (GRCm39)	D726N	probably damaging	Het
Vpreb1b	T	A	16: 17,798,934 (GRCm39)	L140*	probably null	Het
Wfs1	G	A	5: 37,125,286 (GRCm39)	P535L	probably damaging	Het
Xdh	A	G	17: 74,229,532 (GRCm39)	L307P	probably damaging	Het
Zfp160	A	G	17: 21,241,090 (GRCm39)	S53G	probably benign	Het
Zfp319	A	G	8: 96,054,659 (GRCm39)	C515R	probably damaging	Het
Zfp747	A	G	7: 126,974,929 (GRCm39)	F24L	possibly damaging	Het
Zzef1	A	T	11: 72,739,460 (GRCm39)		probably benign	Het

Other mutations in Mbtps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Muskrat	UTSW	8	120,264,876 (GRCm39)	missense	probably damaging	1.00
packrat	UTSW	8	120,255,700 (GRCm39)	missense	probably damaging	1.00
woodrat	UTSW	8	120,255,769 (GRCm39)	missense	probably damaging	1.00
R0194:Mbtps1	UTSW	8	120,262,108 (GRCm39)	missense	probably damaging	1.00
R0270:Mbtps1	UTSW	8	120,264,856 (GRCm39)	splice site	probably benign
R0485:Mbtps1	UTSW	8	120,249,340 (GRCm39)	splice site	probably benign
R1269:Mbtps1	UTSW	8	120,247,016 (GRCm39)	missense	probably damaging	1.00
R1351:Mbtps1	UTSW	8	120,244,901 (GRCm39)	missense	possibly damaging	0.95
R1536:Mbtps1	UTSW	8	120,272,864 (GRCm39)	missense	probably benign	0.01
R1542:Mbtps1	UTSW	8	120,272,986 (GRCm39)	splice site	probably null
R1543:Mbtps1	UTSW	8	120,268,808 (GRCm39)	splice site	probably benign
R1580:Mbtps1	UTSW	8	120,265,639 (GRCm39)	missense	possibly damaging	0.79
R1587:Mbtps1	UTSW	8	120,244,958 (GRCm39)	missense	probably damaging	0.96
R1715:Mbtps1	UTSW	8	120,269,469 (GRCm39)	missense	probably benign	0.40
R1845:Mbtps1	UTSW	8	120,249,232 (GRCm39)	missense	probably benign	0.13
R2147:Mbtps1	UTSW	8	120,265,598 (GRCm39)	missense	probably benign	0.01
R2416:Mbtps1	UTSW	8	120,265,656 (GRCm39)	missense	probably damaging	1.00
R2910:Mbtps1	UTSW	8	120,272,776 (GRCm39)	missense	possibly damaging	0.82
R2911:Mbtps1	UTSW	8	120,272,776 (GRCm39)	missense	possibly damaging	0.82
R3079:Mbtps1	UTSW	8	120,265,602 (GRCm39)	missense	probably damaging	1.00
R3079:Mbtps1	UTSW	8	120,257,944 (GRCm39)	missense	probably benign	0.40
R3080:Mbtps1	UTSW	8	120,265,602 (GRCm39)	missense	probably damaging	1.00
R3080:Mbtps1	UTSW	8	120,257,944 (GRCm39)	missense	probably benign	0.40
R4116:Mbtps1	UTSW	8	120,268,391 (GRCm39)	missense	probably benign	0.00
R4296:Mbtps1	UTSW	8	120,249,238 (GRCm39)	missense	possibly damaging	0.95
R4602:Mbtps1	UTSW	8	120,262,086 (GRCm39)	missense	probably damaging	1.00
R4603:Mbtps1	UTSW	8	120,262,086 (GRCm39)	missense	probably damaging	1.00
R4610:Mbtps1	UTSW	8	120,262,086 (GRCm39)	missense	probably damaging	1.00
R4611:Mbtps1	UTSW	8	120,262,086 (GRCm39)	missense	probably damaging	1.00
R4729:Mbtps1	UTSW	8	120,252,159 (GRCm39)	missense	probably damaging	1.00
R4868:Mbtps1	UTSW	8	120,235,667 (GRCm39)	missense	probably benign	0.01
R4893:Mbtps1	UTSW	8	120,244,932 (GRCm39)	missense	probably damaging	1.00
R4999:Mbtps1	UTSW	8	120,260,087 (GRCm39)	missense	probably damaging	1.00
R6056:Mbtps1	UTSW	8	120,242,341 (GRCm39)	missense	probably benign
R6062:Mbtps1	UTSW	8	120,257,830 (GRCm39)	missense	possibly damaging	0.94
R6237:Mbtps1	UTSW	8	120,255,700 (GRCm39)	missense	probably damaging	1.00
R6617:Mbtps1	UTSW	8	120,264,876 (GRCm39)	missense	probably damaging	1.00
R7215:Mbtps1	UTSW	8	120,251,307 (GRCm39)	missense	possibly damaging	0.82
R7275:Mbtps1	UTSW	8	120,269,489 (GRCm39)	missense	probably benign
R7794:Mbtps1	UTSW	8	120,265,623 (GRCm39)	missense	probably damaging	1.00
R8029:Mbtps1	UTSW	8	120,274,544 (GRCm39)	start gained	probably benign
R8104:Mbtps1	UTSW	8	120,255,794 (GRCm39)	missense	possibly damaging	0.85
R8205:Mbtps1	UTSW	8	120,247,077 (GRCm39)	missense	probably damaging	1.00
R8351:Mbtps1	UTSW	8	120,272,923 (GRCm39)	missense	probably benign	0.01
R8487:Mbtps1	UTSW	8	120,268,413 (GRCm39)	missense	probably damaging	1.00
R8753:Mbtps1	UTSW	8	120,235,601 (GRCm39)	missense	possibly damaging	0.94
R9155:Mbtps1	UTSW	8	120,235,693 (GRCm39)	missense	probably benign	0.06
R9168:Mbtps1	UTSW	8	120,248,602 (GRCm39)	missense	probably benign	0.01
R9172:Mbtps1	UTSW	8	120,260,108 (GRCm39)	missense	probably damaging	1.00
R9621:Mbtps1	UTSW	8	120,235,621 (GRCm39)	missense	possibly damaging	0.69
RF019:Mbtps1	UTSW	8	120,252,289 (GRCm39)	missense	probably damaging	1.00
X0017:Mbtps1	UTSW	8	120,257,863 (GRCm39)	missense	probably damaging	1.00
X0027:Mbtps1	UTSW	8	120,249,286 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGAAACAGATGCTGGG -3'
(R):5'- ATGCTGTCTTGATTCTAGCCAAC -3'

Sequencing Primer
(F):5'- TGCTGGGCTTAAGAGGTAAATG -3'
(R):5'- TGCCCTGTAATGAAACCCGG -3'

Posted On

2014-10-01