Mutagenetix > Incidental Mutation

Incidental Mutation 'R1542:Mbtps1'

171826

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

039581-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120234895-120285474 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 120272986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000095965 (fasta)

Gene Model

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

AlphaFold

Q9WTZ2

Predicted Effect

probably null
Transcript: ENSMUST00000081381

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835

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 null
Transcript: ENSMUST00000098362

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835

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: ENSMUST00000212601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212813

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,055 (GRCm39)	M208T	possibly damaging	Het
Acsbg2	T	A	17: 57,156,791 (GRCm39)	I416F	probably damaging	Het
Adam6b	G	A	12: 113,454,559 (GRCm39)	D459N	possibly damaging	Het
Adprh	A	T	16: 38,266,286 (GRCm39)	D285E	probably damaging	Het
Aggf1	A	T	13: 95,507,450 (GRCm39)	C112S	probably benign	Het
Als2cl	T	C	9: 110,723,102 (GRCm39)	V602A	probably benign	Het
Angptl2	G	T	2: 33,118,897 (GRCm39)	V224F	probably benign	Het
Ap3b2	A	T	7: 81,127,825 (GRCm39)		probably null	Het
Aqp2	A	C	15: 99,481,723 (GRCm39)	I206L	probably benign	Het
Asap2	A	G	12: 21,315,998 (GRCm39)	D930G	probably damaging	Het
Cacna1e	T	A	1: 154,353,525 (GRCm39)	M682L	probably benign	Het
Ccdc18	A	G	5: 108,360,054 (GRCm39)	N1146S	probably benign	Het
Ccr4	G	A	9: 114,321,073 (GRCm39)	H331Y	probably benign	Het
Cd33	A	G	7: 43,181,530 (GRCm39)	L210P	probably damaging	Het
Cep85l	T	C	10: 53,177,680 (GRCm39)	E351G	probably damaging	Het
Cntn6	C	A	6: 104,825,061 (GRCm39)	T867K	probably damaging	Het
Cpeb2	C	T	5: 43,443,218 (GRCm39)	R970C	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dscaml1	T	A	9: 45,660,738 (GRCm39)	I1693K	possibly damaging	Het
Ebf4	A	T	2: 130,207,418 (GRCm39)	M621L	probably benign	Het
Elp4	G	T	2: 105,624,954 (GRCm39)	T313N	probably benign	Het
Epas1	T	A	17: 87,131,918 (GRCm39)	I373N	possibly damaging	Het
Etnk1	A	T	6: 143,126,367 (GRCm39)	M71L	probably benign	Het
Fry	C	T	5: 150,328,431 (GRCm39)	T1257I	probably benign	Het
Gm21834	A	G	17: 58,048,946 (GRCm39)	F90S	possibly damaging	Het
Gm8674	T	A	13: 50,054,039 (GRCm39)		noncoding transcript	Het
Gna11	T	C	10: 81,369,162 (GRCm39)	T134A	probably benign	Het
Golga5	C	T	12: 102,440,979 (GRCm39)	S238F	probably damaging	Het
Grin2a	T	A	16: 9,397,067 (GRCm39)	N1007Y	probably damaging	Het
H3c6	A	G	13: 23,746,338 (GRCm39)	F68L	probably damaging	Het
Ifnar2	G	A	16: 91,196,153 (GRCm39)	V253M	possibly damaging	Het
Insl5	A	T	4: 102,875,382 (GRCm39)	S123T	probably damaging	Het
Itgb2	T	C	10: 77,395,320 (GRCm39)	S474P	probably benign	Het
Kcnb2	A	G	1: 15,781,012 (GRCm39)	H628R	probably benign	Het
L3mbtl2	G	A	15: 81,566,352 (GRCm39)	D392N	probably null	Het
Lrp1b	G	T	2: 41,013,724 (GRCm39)	T1813K	probably damaging	Het
Map3k4	A	G	17: 12,454,793 (GRCm39)	L1399P	probably damaging	Het
Mettl25	A	T	10: 105,661,981 (GRCm39)	S330T	probably benign	Het
Mical2	T	C	7: 111,908,675 (GRCm39)	L211P	probably damaging	Het
Mmrn1	T	A	6: 60,922,102 (GRCm39)	S186R	probably damaging	Het
Mob3b	C	A	4: 35,084,046 (GRCm39)	V48L	possibly damaging	Het
Napsa	A	T	7: 44,231,113 (GRCm39)	H114L	probably damaging	Het
Nsmce4a	A	T	7: 130,147,623 (GRCm39)		probably null	Het
Nup62	A	G	7: 44,479,353 (GRCm39)	K456R	possibly damaging	Het
Nwd2	T	A	5: 63,964,318 (GRCm39)	W1301R	probably damaging	Het
Oprm1	G	T	10: 6,738,960 (GRCm39)	W29L	probably damaging	Het
Or10al2	A	T	17: 37,983,142 (GRCm39)	E76V	probably damaging	Het
Or1l4b	T	A	2: 37,036,978 (GRCm39)	S251R	probably damaging	Het
Or2c1	T	A	16: 3,657,696 (GRCm39)	N286K	probably damaging	Het
Or5w17	A	G	2: 87,583,662 (GRCm39)	V225A	probably damaging	Het
Pals2	A	G	6: 50,175,306 (GRCm39)	Y539C	probably damaging	Het
Pcnt	T	G	10: 76,225,221 (GRCm39)	N1761T	probably benign	Het
Pcnt	C	T	10: 76,237,220 (GRCm39)	M1355I	probably benign	Het
Pde11a	A	T	2: 75,877,199 (GRCm39)	S757T	probably benign	Het
Pde6a	T	A	18: 61,390,116 (GRCm39)	I490N	possibly damaging	Het
Pgap1	A	G	1: 54,531,249 (GRCm39)	V742A	probably benign	Het
Pik3c2b	T	C	1: 133,017,772 (GRCm39)	L915P	probably damaging	Het
Pkd1l1	A	G	11: 8,824,179 (GRCm39)	C1129R	possibly damaging	Het
Pkhd1l1	A	T	15: 44,391,587 (GRCm39)	H1551L	probably benign	Het
Plxnb2	C	T	15: 89,050,124 (GRCm39)	C491Y	probably damaging	Het
Ppt1	C	A	4: 122,751,402 (GRCm39)	H300N	probably benign	Het
Prpf3	T	A	3: 95,743,782 (GRCm39)	Q457L	probably benign	Het
Ranbp17	C	T	11: 33,214,672 (GRCm39)	V914I	probably benign	Het
Rasal2	T	C	1: 157,003,421 (GRCm39)	I413V	possibly damaging	Het
Rb1cc1	G	A	1: 6,314,473 (GRCm39)	V382I	possibly damaging	Het
Rere	T	A	4: 150,700,399 (GRCm39)	F1125I	probably damaging	Het
Rprd2	A	T	3: 95,672,988 (GRCm39)	V805E	possibly damaging	Het
Septin10	T	G	10: 59,002,428 (GRCm39)	E162A	probably damaging	Het
Septin12	G	T	16: 4,810,159 (GRCm39)	D125E	probably benign	Het
Serpina6	A	G	12: 103,620,732 (GRCm39)	Y6H	probably benign	Het
Serpinb3c	T	C	1: 107,200,517 (GRCm39)	M209V	probably damaging	Het
Slc2a7	A	T	4: 150,252,928 (GRCm39)	T523S	probably damaging	Het
Smdt1	T	C	15: 82,230,376 (GRCm39)	V31A	possibly damaging	Het
Snrnp48	T	C	13: 38,404,680 (GRCm39)	I245T	probably damaging	Het
Spink2	G	A	5: 77,354,812 (GRCm39)	T33I	probably damaging	Het
Sptan1	A	G	2: 29,917,139 (GRCm39)	T2204A	probably damaging	Het
Synj2	A	G	17: 6,075,292 (GRCm39)	D306G	probably benign	Het
Tas2r109	A	G	6: 132,957,873 (GRCm39)	I19T	possibly damaging	Het
Tbk1	C	T	10: 121,395,840 (GRCm39)	V418M	probably benign	Het
Tcerg1	A	G	18: 42,686,495 (GRCm39)	E684G	probably damaging	Het
Tenm2	T	C	11: 36,191,047 (GRCm39)	N308S	probably damaging	Het
Tfb2m	A	T	1: 179,365,426 (GRCm39)		probably null	Het
Tmc1	T	A	19: 20,793,486 (GRCm39)	L558F	probably damaging	Het
Tmprss5	T	A	9: 49,020,434 (GRCm39)	I80N	possibly damaging	Het
Trappc2l	G	A	8: 123,342,146 (GRCm39)	V131M	probably damaging	Het
Trpm7	A	C	2: 126,664,519 (GRCm39)	Y953*	probably null	Het
Ttn	T	C	2: 76,583,859 (GRCm39)	R22383G	probably damaging	Het
Ugt1a6b	G	A	1: 88,034,983 (GRCm39)	G107D	probably benign	Het
Vmn1r197	A	T	13: 22,512,520 (GRCm39)	Y147F	probably benign	Het
Zfp507	A	T	7: 35,494,226 (GRCm39)	N272K	possibly damaging	Het
Zfp526	G	A	7: 24,925,687 (GRCm39)	E649K	probably benign	Het
Zswim6	G	A	13: 107,863,769 (GRCm39)		noncoding transcript	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
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
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'- AGGGAACGAAAGACTTTCCGCTG -3'
(R):5'- TGAATCTCTGCATGTTGCCACCTG -3'

Sequencing Primer
(F):5'- ATCTTCAAGTGTGAGCAGCC -3'
(R):5'- ATGTTGCCACCTGTGGTC -3'

Posted On

2014-04-13