Mutagenetix > Incidental Mutation

Incidental Mutation 'R0194:Mbtps1'

60716

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

038453-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0194 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120234895-120285474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120262108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 347 (N347I)

Ref Sequence

ENSEMBL: ENSMUSP00000095965 (fasta)

Gene Model

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

AlphaFold

Q9WTZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000081381
AA Change: N347I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: N347I

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 damaging
Transcript: ENSMUST00000098362
AA Change: N347I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: N347I

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

Meta Mutation Damage Score

0.7566

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 91.4%
20x: 70.1%

Validation Efficiency

91% (439/482)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,480 (GRCm39)	D46V	unknown	Het
Abcb9	A	G	5: 124,215,358 (GRCm39)	V461A	probably damaging	Het
Ackr4	T	A	9: 103,976,679 (GRCm39)	L89F	probably benign	Het
Acsf2	T	C	11: 94,452,196 (GRCm39)	T449A	probably benign	Het
Acsl4	C	G	X: 141,116,714 (GRCm39)	G489R	probably damaging	Het
Actl6a	T	A	3: 32,779,469 (GRCm39)	I399N	probably damaging	Het
Adamts19	G	A	18: 59,144,220 (GRCm39)	C934Y	probably null	Het
Adsl	A	G	15: 80,845,561 (GRCm39)	E40G	possibly damaging	Het
Alppl2	T	G	1: 87,016,465 (GRCm39)	D203A	probably damaging	Het
Asb10	C	A	5: 24,742,930 (GRCm39)	A268S	probably benign	Het
Atp9a	T	C	2: 168,485,805 (GRCm39)	S832G	probably benign	Het
Bckdha	A	T	7: 25,330,875 (GRCm39)	I297N	probably damaging	Het
Blm	G	A	7: 80,114,694 (GRCm39)		probably benign	Het
C9orf72	T	A	4: 35,197,207 (GRCm39)	D122V	probably damaging	Het
Cacna1h	A	G	17: 25,599,898 (GRCm39)		probably benign	Het
Camsap2	G	A	1: 136,220,686 (GRCm39)	Q298*	probably null	Het
Ccdc38	A	T	10: 93,401,774 (GRCm39)	K145*	probably null	Het
Cfap45	C	T	1: 172,368,894 (GRCm39)	T434M	probably benign	Het
Cfap54	A	T	10: 92,870,524 (GRCm39)		probably benign	Het
Clcn6	G	A	4: 148,097,213 (GRCm39)	P618L	probably damaging	Het
Copg1	T	C	6: 87,881,179 (GRCm39)		probably benign	Het
Dctd	T	A	8: 48,565,113 (GRCm39)	N79K	probably benign	Het
Dgkq	A	G	5: 108,802,510 (GRCm39)		probably benign	Het
Dntt	A	T	19: 41,027,409 (GRCm39)	T159S	possibly damaging	Het
Doc2g	G	A	19: 4,053,656 (GRCm39)	R29Q	probably benign	Het
Dsg3	A	G	18: 20,673,199 (GRCm39)	T957A	probably damaging	Het
Eif3c	T	A	7: 126,157,795 (GRCm39)		probably benign	Het
Ephb3	T	A	16: 21,036,859 (GRCm39)	D107E	probably benign	Het
Esrrb	A	T	12: 86,517,255 (GRCm39)	D108V	probably damaging	Het
Exo1	A	G	1: 175,719,596 (GRCm39)	K214E	probably damaging	Het
Fam186a	G	A	15: 99,839,644 (GRCm39)	T2200I	possibly damaging	Het
Fam227a	C	T	15: 79,524,870 (GRCm39)	W194*	probably null	Het
Foxn4	A	G	5: 114,397,809 (GRCm39)		probably null	Het
Gabbr2	T	C	4: 46,787,565 (GRCm39)	K366R	possibly damaging	Het
Garem2	T	A	5: 30,318,928 (GRCm39)	V130E	probably damaging	Het
Grin2b	A	G	6: 135,756,303 (GRCm39)	F474S	probably damaging	Het
H2-M10.6	G	T	17: 37,124,934 (GRCm39)	V284F	probably damaging	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hivep1	G	T	13: 42,308,911 (GRCm39)	V384F	probably damaging	Het
Hmox1	A	G	8: 75,823,736 (GRCm39)	T135A	probably damaging	Het
Hpse	T	C	5: 100,867,378 (GRCm39)	D28G	probably benign	Het
Itm2b	G	T	14: 73,602,058 (GRCm39)	D213E	probably benign	Het
Jakmip1	T	A	5: 37,291,627 (GRCm39)	M692K	possibly damaging	Het
Kdm3a	T	C	6: 71,601,578 (GRCm39)	Q151R	probably null	Het
Limch1	C	A	5: 67,156,616 (GRCm39)	A517E	probably benign	Het
Lrit1	T	A	14: 36,783,677 (GRCm39)	L335Q	probably damaging	Het
Lrrc37a	A	G	11: 103,390,616 (GRCm39)	V1603A	possibly damaging	Het
Mier1	A	T	4: 102,996,716 (GRCm39)		probably null	Het
Mt2	A	T	8: 94,899,476 (GRCm39)	M1L	probably damaging	Het
Mug1	A	T	6: 121,817,066 (GRCm39)	E45V	probably damaging	Het
Mybphl	A	G	3: 108,281,484 (GRCm39)	K67E	probably benign	Het
Myh4	A	G	11: 67,143,162 (GRCm39)	K1030R	probably damaging	Het
Myl3	T	A	9: 110,598,189 (GRCm39)	D176E	probably benign	Het
Ncapg2	A	G	12: 116,384,303 (GRCm39)		probably null	Het
Ndor1	T	C	2: 25,138,718 (GRCm39)		probably null	Het
Nedd4	T	G	9: 72,577,335 (GRCm39)	N53K	possibly damaging	Het
Nek11	C	A	9: 105,270,151 (GRCm39)	A24S	probably benign	Het
Nudt19	G	T	7: 35,250,939 (GRCm39)	P267T	probably benign	Het
Olfml2b	T	C	1: 170,508,684 (GRCm39)	M514T	possibly damaging	Het
Or14a258	A	T	7: 86,035,582 (GRCm39)	C95*	probably null	Het
Or2ag17	C	A	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or52i2	A	G	7: 102,319,406 (GRCm39)	D93G	probably benign	Het
Or6k4	A	T	1: 173,964,327 (GRCm39)	T6S	probably benign	Het
P3h1	T	A	4: 119,095,149 (GRCm39)	F302Y	probably damaging	Het
Pappa2	T	A	1: 158,592,671 (GRCm39)		probably benign	Het
Pex2	A	C	3: 5,626,424 (GRCm39)	H128Q	probably benign	Het
Phf11d	A	C	14: 59,590,180 (GRCm39)	L214R	probably damaging	Het
Plcg2	G	A	8: 118,300,136 (GRCm39)		probably benign	Het
Ppargc1b	A	C	18: 61,441,016 (GRCm39)	L634R	possibly damaging	Het
Prune1	A	T	3: 95,169,671 (GRCm39)	I177N	probably damaging	Het
Puf60	T	C	15: 75,942,334 (GRCm39)	D496G	probably damaging	Het
Rasl11b	A	G	5: 74,356,824 (GRCm39)		probably null	Het
Sdr42e1	A	T	8: 118,389,848 (GRCm39)	F264L	probably damaging	Het
Sec24b	A	T	3: 129,777,814 (GRCm39)		probably null	Het
Sgta	G	T	10: 80,886,893 (GRCm39)	P79T	probably benign	Het
Shisa9	C	T	16: 11,802,818 (GRCm39)	T125M	probably damaging	Het
Shoc1	T	A	4: 59,066,534 (GRCm39)		probably benign	Het
Slc12a2	A	G	18: 58,063,283 (GRCm39)	D921G	probably damaging	Het
Slc13a5	C	T	11: 72,136,059 (GRCm39)	V494I	probably benign	Het
Slc13a5	T	A	11: 72,152,956 (GRCm39)	I42L	possibly damaging	Het
Spire2	G	A	8: 124,089,750 (GRCm39)		probably benign	Het
Sptbn4	G	A	7: 27,104,336 (GRCm39)	R962C	probably benign	Het
St8sia5	G	A	18: 77,342,420 (GRCm39)	V377I	probably benign	Het
Stag2	T	G	X: 41,295,014 (GRCm39)		probably benign	Het
Syne1	C	A	10: 5,374,311 (GRCm39)	M165I	probably benign	Het
Synm	C	A	7: 67,384,672 (GRCm39)	V997L	probably damaging	Het
Tacc1	A	G	8: 25,672,392 (GRCm39)	S279P	probably benign	Het
Tbc1d10a	T	C	11: 4,162,901 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 54,017,498 (GRCm39)	T302A	probably damaging	Het
Tecpr1	A	C	5: 144,155,335 (GRCm39)	N74K	probably damaging	Het
Tmem120a	T	C	5: 135,771,252 (GRCm39)	E28G	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,951,382 (GRCm39)	I186N	probably benign	Het
Trim55	A	G	3: 19,716,025 (GRCm39)	D195G	probably benign	Het
Trpm3	G	T	19: 22,692,720 (GRCm39)		probably null	Het
Ttc39a	T	A	4: 109,301,376 (GRCm39)	S571T	probably benign	Het
Vwf	T	G	6: 125,620,260 (GRCm39)	I1646S	probably benign	Het
Wbp2nl	T	C	15: 82,198,483 (GRCm39)	F340S	possibly damaging	Het
Yeats2	T	C	16: 19,971,719 (GRCm39)	M1T	probably null	Het
Zfp236	T	A	18: 82,675,112 (GRCm39)	E460V	probably damaging	Het
Zfp277	G	A	12: 40,428,876 (GRCm39)		probably benign	Het
Zfp975	T	A	7: 42,311,916 (GRCm39)	K232N	probably benign	Het
Zxdc	T	C	6: 90,349,519 (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
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
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'- CTGGGAAATGACCCTCAGAATCCAC -3'
(R):5'- AAGGTGCAGCCTCCTGTCAAAG -3'

Sequencing Primer
(F):5'- GGTGGTTAACACCAAAGTTCCTG -3'
(R):5'- CCTCCTGTCAAAGCTGCG -3'

Posted On

2013-07-24