Mutagenetix > Incidental Mutation

Incidental Mutation 'R4868:Mbtps1'

376335

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

042478-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4868 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

120234895-120285474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120235667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1004 (V1004I)

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: V1004I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: V1004I

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: V1004I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: V1004I

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

0.0825

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

99% (91/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,729 (GRCm39)	*299W	probably null	Het
4933412E24Rik	G	A	15: 59,887,817 (GRCm39)	L208F	possibly damaging	Het
Abca8b	G	A	11: 109,865,338 (GRCm39)	A373V	probably benign	Het
Actn3	A	T	19: 4,914,482 (GRCm39)	W549R	probably benign	Het
Adamts4	C	T	1: 171,080,000 (GRCm39)		probably benign	Het
Adcy4	T	C	14: 56,011,179 (GRCm39)	I615V	probably benign	Het
Akap1	A	G	11: 88,735,379 (GRCm39)	S428P	possibly damaging	Het
Akap13	A	T	7: 75,393,252 (GRCm39)	R2476W	probably damaging	Het
Alx3	A	G	3: 107,507,943 (GRCm39)	S151G	possibly damaging	Het
Aoah	T	A	13: 21,099,151 (GRCm39)	Y243*	probably null	Het
Asap1	A	G	15: 63,966,030 (GRCm39)	V1025A	probably benign	Het
Atp8b1	A	T	18: 64,684,937 (GRCm39)	I728N	probably damaging	Het
Baz2b	C	A	2: 59,755,226 (GRCm39)	V1001L	possibly damaging	Het
Bmpr2	T	A	1: 59,909,615 (GRCm39)	S1030T	probably benign	Het
Cacna2d3	A	T	14: 28,678,743 (GRCm39)		probably null	Het
Casp3	A	T	8: 47,087,314 (GRCm39)	N87I	probably benign	Het
Ccdc171	T	A	4: 83,612,569 (GRCm39)	L995Q	probably damaging	Het
Ccdc80	T	A	16: 44,924,776 (GRCm39)	Y637N	probably damaging	Het
Ccr4	A	G	9: 114,321,901 (GRCm39)	F55L	probably benign	Het
Cmah	T	A	13: 24,648,247 (GRCm39)	V494E	probably damaging	Het
Cnot6l	A	G	5: 96,230,882 (GRCm39)	Y362H	probably damaging	Het
Coq6	T	C	12: 84,417,726 (GRCm39)	V222A	probably damaging	Het
Ctdspl2	C	A	2: 121,823,879 (GRCm39)	T240N	possibly damaging	Het
D430041D05Rik	T	C	2: 104,085,754 (GRCm39)	T248A	possibly damaging	Het
Dctn6	A	T	8: 34,559,230 (GRCm39)		probably benign	Het
Dhx34	T	C	7: 15,933,727 (GRCm39)	D955G	probably benign	Het
Dnaaf5	A	G	5: 139,155,941 (GRCm39)	M541V	probably benign	Het
Dnah17	A	T	11: 117,999,038 (GRCm39)	S912T	probably benign	Het
Dnah2	A	T	11: 69,354,474 (GRCm39)	V2248E	probably damaging	Het
Dysf	T	C	6: 84,156,675 (GRCm39)	W1502R	probably damaging	Het
Dzip1	A	T	14: 119,114,626 (GRCm39)	V843E	probably damaging	Het
Esp23	G	T	17: 39,384,915 (GRCm39)	T27K	probably benign	Het
Esp3	A	T	17: 40,944,420 (GRCm39)	M21L	possibly damaging	Het
Fam43b	T	A	4: 138,123,108 (GRCm39)	T71S	probably benign	Het
Fpgs	G	A	2: 32,582,673 (GRCm39)	R63C	probably damaging	Het
H2-M11	G	T	17: 36,859,811 (GRCm39)	W268L	probably damaging	Het
Inpp5b	T	C	4: 124,645,203 (GRCm39)	S210P	probably damaging	Het
Itsn1	T	A	16: 91,582,205 (GRCm39)	S51T	probably damaging	Het
Kctd2	G	A	11: 115,320,205 (GRCm39)	V246I	probably damaging	Het
Krt75	C	T	15: 101,476,556 (GRCm39)	G403E	probably damaging	Het
Lamp3	T	A	16: 19,520,040 (GRCm39)	T48S	probably benign	Het
Lyzl4	C	A	9: 121,412,075 (GRCm39)	V114L	probably damaging	Het
Maml3	C	A	3: 52,011,345 (GRCm39)	E74*	probably null	Het
Map2k7	G	A	8: 4,297,751 (GRCm39)		probably benign	Het
Mapk8ip3	A	G	17: 25,120,389 (GRCm39)	V883A	probably benign	Het
Metap1	G	T	3: 138,188,850 (GRCm39)	H48Q	probably damaging	Het
Mical2	T	A	7: 111,917,831 (GRCm39)	V396E	probably damaging	Het
Mks1	T	A	11: 87,744,549 (GRCm39)		probably benign	Het
Ndst1	T	C	18: 60,828,548 (GRCm39)	T669A	probably benign	Het
Obox3	T	C	7: 15,361,235 (GRCm39)	K10R	probably damaging	Het
Opn3	T	C	1: 175,491,127 (GRCm39)	Y302C	probably damaging	Het
Or4f62	T	A	2: 111,986,916 (GRCm39)	S207T	probably damaging	Het
Or6b6	C	T	7: 106,570,974 (GRCm39)	M192I	probably benign	Het
Or9g8	T	G	2: 85,606,970 (GRCm39)	V14G	possibly damaging	Het
Pdzph1	A	T	17: 59,281,751 (GRCm39)	V177D	probably benign	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Pmpcb	T	A	5: 21,953,851 (GRCm39)	Y366*	probably null	Het
Prr14l	A	T	5: 32,987,281 (GRCm39)	M738K	probably benign	Het
Prx	T	C	7: 27,217,004 (GRCm39)	S641P	probably benign	Het
Ptchd3	A	G	11: 121,721,883 (GRCm39)	Y252C	possibly damaging	Het
Reg3a	A	G	6: 78,358,883 (GRCm39)	E27G	probably damaging	Het
Ripor2	A	G	13: 24,878,124 (GRCm39)	T300A	possibly damaging	Het
Sdf4	T	A	4: 156,093,642 (GRCm39)	S259T	probably damaging	Het
Sike1	A	G	3: 102,904,730 (GRCm39)		probably null	Het
Sis	T	G	3: 72,850,881 (GRCm39)	I606L	probably benign	Het
Slc30a9	T	C	5: 67,482,026 (GRCm39)	I94T	probably benign	Het
Slc5a4a	T	C	10: 76,014,065 (GRCm39)	I424T	probably damaging	Het
Spx	C	T	6: 142,362,116 (GRCm39)	R72*	probably null	Het
St7	C	A	6: 17,819,265 (GRCm39)	N56K	probably damaging	Het
Tcte2	C	A	17: 13,948,270 (GRCm39)	G3V	probably damaging	Het
Tent5b	A	G	4: 133,213,393 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,108,955 (GRCm39)	D258G	probably benign	Het
Timeless	G	T	10: 128,083,230 (GRCm39)	G659V	probably benign	Het
Tnn	T	C	1: 159,958,443 (GRCm39)	R467G	possibly damaging	Het
Tor1b	T	C	2: 30,846,589 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,194,709 (GRCm39)	L911Q	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ttyh3	A	T	5: 140,615,221 (GRCm39)	I389N	probably damaging	Het
Tut4	T	C	4: 108,406,417 (GRCm39)		probably benign	Het
Ube3b	T	C	5: 114,536,488 (GRCm39)	V216A	probably benign	Het
Vezf1	T	A	11: 87,965,520 (GRCm39)	V254E	probably damaging	Het
Vmn1r122	T	C	7: 20,867,227 (GRCm39)	E276G	probably benign	Het
Vmn1r167	T	A	7: 23,204,161 (GRCm39)	N285I	probably benign	Het
Vmn2r45	T	A	7: 8,484,480 (GRCm39)	I442F	probably benign	Het
Vwa8	C	A	14: 79,420,522 (GRCm39)	A1741E	probably damaging	Het
Wdr20	T	A	12: 110,704,668 (GRCm39)	V69E	probably damaging	Het
Xkr4	T	G	1: 3,287,074 (GRCm39)	Q372P	probably damaging	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
R2157:Mbtps1	UTSW	8	120,269,466 (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
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'- ACTTCCCAGAATGCTCTCTGAG -3'
(R):5'- TCTGGCTCAAAAGTGATGCC -3'

Sequencing Primer
(F):5'- AGAATGCTCTCTGAGGCGCTG -3'
(R):5'- AAGTGATGCCTACCCTGCTAG -3'

Posted On

2016-03-17