Mutagenetix > Incidental Mutation

Incidental Mutation 'R9621:Mbtps1'

724799

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9621 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120234895-120285474 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120235621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1019 (V1019A)

Ref Sequence

ENSEMBL: ENSMUSP00000080117 (fasta)

Gene Model

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

AlphaFold

Q9WTZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081381
AA Change: V1019A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: V1019A

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

possibly damaging
Transcript: ENSMUST00000098362
AA Change: V1019A

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: V1019A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,092,918 (GRCm39)	T289A	probably benign	Het
Adnp	A	T	2: 168,024,663 (GRCm39)	S877R	probably benign	Het
Akap13	T	A	7: 75,386,090 (GRCm39)	H555Q	probably benign	Het
Alg6	T	A	4: 99,615,131 (GRCm39)	Y38*	probably null	Het
Amtn	C	A	5: 88,528,205 (GRCm39)	Q93K	probably benign	Het
Ap2b1	T	C	11: 83,293,424 (GRCm39)	V937A	probably damaging	Het
Arih1	ATCGTCCGGCTCGTCCTCGTCGTCGTCC	ATCGTCC	9: 59,393,520 (GRCm39)		probably benign	Het
Atosa	A	G	9: 74,917,512 (GRCm39)	N711D	possibly damaging	Het
Bhmt	A	G	13: 93,758,079 (GRCm39)	S211P	possibly damaging	Het
Bltp3a	T	A	17: 28,105,753 (GRCm39)	S760T	probably benign	Het
Bmp1	T	C	14: 70,715,306 (GRCm39)	Y943C	probably benign	Het
Calcoco2	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,862 (GRCm39)		probably null	Het
Cbfb	A	C	8: 105,905,243 (GRCm39)	T62P	probably damaging	Het
Ccdc154	T	C	17: 25,386,355 (GRCm39)	F249L	probably damaging	Het
Cdh26	T	A	2: 178,111,983 (GRCm39)	F514L	probably damaging	Het
Cdhr2	A	G	13: 54,866,350 (GRCm39)	E352G		Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Cfdp1	A	G	8: 112,571,807 (GRCm39)	V34A	probably damaging	Het
Cntnap2	A	T	6: 46,965,726 (GRCm39)	I846F	probably damaging	Het
Cntrl	A	G	2: 35,050,278 (GRCm39)	K1464E	probably damaging	Het
Crybg3	T	C	16: 59,326,613 (GRCm39)	D1039G	possibly damaging	Het
Csmd3	A	T	15: 47,713,116 (GRCm39)	S778R		Het
Daam2	C	T	17: 49,780,332 (GRCm39)	C729Y	probably damaging	Het
Ddx18	T	C	1: 121,489,132 (GRCm39)	H305R	probably damaging	Het
Dio1	C	T	4: 107,149,558 (GRCm39)	C248Y	probably benign	Het
Dnah1	C	A	14: 31,016,772 (GRCm39)	A1582S	probably damaging	Het
Eef1a1	A	T	9: 78,386,632 (GRCm39)	D319E	probably benign	Het
Fam171b	G	A	2: 83,643,109 (GRCm39)	R6H	probably damaging	Het
Flnb	G	A	14: 7,926,421 (GRCm38)	G1822R	probably damaging	Het
Gabrb1	G	A	5: 72,279,363 (GRCm39)	V303I	possibly damaging	Het
Gli3	T	G	13: 15,901,253 (GRCm39)	S1547A	probably benign	Het
Gm4884	A	T	7: 40,693,111 (GRCm39)	N360I	possibly damaging	Het
Ift70b	T	C	2: 75,768,144 (GRCm39)	Y203C	probably damaging	Het
Il1rl2	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT	1: 40,366,470 (GRCm39)		probably benign	Het
Ino80	C	G	2: 119,280,496 (GRCm39)	K289N	probably damaging	Het
Itpr1	G	A	6: 108,393,870 (GRCm39)	E1638K	probably damaging	Het
Jakmip1	A	T	5: 37,274,812 (GRCm39)	I45F	unknown	Het
Kif1a	G	A	1: 92,983,445 (GRCm39)	P684L	probably benign	Het
Kpnb1	A	T	11: 97,058,460 (GRCm39)	S610T	probably benign	Het
Man1a2	A	G	3: 100,591,961 (GRCm39)	V73A	probably benign	Het
Muc21	T	A	17: 35,932,720 (GRCm39)	T489S	unknown	Het
Nup210	G	C	6: 90,994,375 (GRCm39)	N1774K	probably benign	Het
Or10p21	G	T	10: 128,847,759 (GRCm39)	V202F	probably benign	Het
Pik3c2b	T	C	1: 132,999,345 (GRCm39)	S398P	probably damaging	Het
Pmpca	A	G	2: 26,279,988 (GRCm39)	T37A	probably benign	Het
Ppfia1	A	G	7: 144,052,516 (GRCm39)	S840P	probably damaging	Het
Prkcq	A	T	2: 11,261,014 (GRCm39)	K355N	probably benign	Het
Prorp	C	A	12: 55,429,042 (GRCm39)	H538N	probably benign	Het
Ptprg	A	G	14: 12,237,809 (GRCm38)	K1422R	probably benign	Het
Ptprq	T	C	10: 107,378,523 (GRCm39)	E2006G	probably damaging	Het
Qsox1	TG	T	1: 155,671,135 (GRCm39)		probably null	Het
Rcor2	A	T	19: 7,251,591 (GRCm39)	T412S	probably benign	Het
Rnf224	A	T	2: 25,126,200 (GRCm39)	M51K	probably benign	Het
Robo4	A	G	9: 37,317,509 (GRCm39)	D521G	probably damaging	Het
Sf3b4	T	A	3: 96,084,115 (GRCm39)	S360T	unknown	Het
Sgo2b	T	C	8: 64,380,651 (GRCm39)	D727G	probably damaging	Het
Smpd2	C	A	10: 41,364,283 (GRCm39)	V172L	probably benign	Het
Spring1	C	T	5: 118,393,880 (GRCm39)	T86I	possibly damaging	Het
Syne1	C	T	10: 5,273,887 (GRCm39)	A1966T	probably benign	Het
Syt13	G	A	2: 92,745,575 (GRCm39)	G15D	possibly damaging	Het
Taf3	A	T	2: 9,923,070 (GRCm39)	L18Q	unknown	Het
Tcam1	T	A	11: 106,176,259 (GRCm39)	N328K	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tet2	A	T	3: 133,193,767 (GRCm39)	Y222*	probably null	Het
Timm29	A	T	9: 21,504,218 (GRCm39)		probably benign	Het
Tmc6	T	C	11: 117,669,995 (GRCm39)	D17G	probably benign	Het
Tmem30a	T	A	9: 79,687,926 (GRCm39)	D81V	probably benign	Het
Tnnt1	T	C	7: 4,511,501 (GRCm39)	I195V	probably benign	Het
Ttll5	T	A	12: 85,938,896 (GRCm39)	V398E	possibly damaging	Het
Ttn	T	C	2: 76,748,441 (GRCm39)	T4203A	possibly damaging	Het
Ubc	A	G	5: 125,464,511 (GRCm39)	I272T	probably damaging	Het
Unc45a	A	G	7: 79,983,785 (GRCm39)	L337P	probably damaging	Het
Vmn1r229	T	C	17: 21,035,315 (GRCm39)	F187L	probably benign	Het
Wrn	A	T	8: 33,814,301 (GRCm39)	M381K	probably benign	Het
Zdbf2	A	G	1: 63,342,635 (GRCm39)	N338S	possibly damaging	Het
Zfp541	A	G	7: 15,805,892 (GRCm39)	E9G	possibly damaging	Het
Zrsr2-ps1	G	A	11: 22,923,418 (GRCm39)	R64Q	possibly damaging	Het
Zswim8	T	A	14: 20,772,231 (GRCm39)	S1614T	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
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
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'- AACAGGCACTTCCCAGAATG -3'
(R):5'- AAAGTGATGCCTACCCTGCTAG -3'

Sequencing Primer
(F):5'- TCCCAGAATGCTCTCTGAGG -3'
(R):5'- CAGCTAGTGGAGTTTGGTCTC -3'

Posted On

2022-09-12