Mutagenetix > Incidental Mutations

Incidental Mutation 'R1845:Mbtps1'

207652

Institutional Source

Beutler Lab

Gene Symbol

Mbtps1

Ensembl Gene

ENSMUSG00000031835

Gene Name

membrane-bound transcription factor peptidase, site 1

Synonyms

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

MMRRC Submission

039870-MU

Accession Numbers

ENSMUST00000098362; MGI: 1927235

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1845 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

119508156-119558735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119522493 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 686 (D686G)

Ref Sequence

ENSEMBL: ENSMUSP00000095965 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081381
AA Change: D686G

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: D686G

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: D686G

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: D686G

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: ENSMUST00000212290

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212685

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	T	A	12: 55,304,332	I142N	possibly damaging	Het
1110038F14Rik	CGGG	CGGGGGG	15: 76,949,663		probably benign	Het
Abca17	A	T	17: 24,267,716	C1446S	probably damaging	Het
Asb16	C	A	11: 102,276,756	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,376,544	V384I	possibly damaging	Het
BC024139	A	T	15: 76,125,261	L207*	probably null	Het
Bcl3	T	G	7: 19,809,627	S305R	probably damaging	Het
Cachd1	T	C	4: 100,777,358	V77A	probably benign	Het
Cd101	C	T	3: 101,029,448		probably null	Het
Cela1	T	C	15: 100,685,167	N64S	probably benign	Het
Cep128	T	C	12: 91,289,598	D366G	probably benign	Het
Col12a1	A	G	9: 79,697,541	V675A	probably benign	Het
Copg1	A	G	6: 87,893,818	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,487,917	R372G	probably benign	Het
Dcaf1	A	C	9: 106,851,962	I567L	probably benign	Het
Dcn	A	G	10: 97,506,674	D164G	probably benign	Het
Dnase2a	T	A	8: 84,909,322	H113Q	probably benign	Het
Espl1	T	C	15: 102,299,013	V304A	probably benign	Het
Fam193a	A	G	5: 34,443,372	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,531,035		probably null	Het
Foxp4	T	A	17: 47,877,959	T321S	probably null	Het
Fut10	A	G	8: 31,236,300	N361S	probably damaging	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gyg	A	T	3: 20,151,122	V94D	probably damaging	Het
Has2	T	C	15: 56,668,578	K247R	probably damaging	Het
Helz2	G	T	2: 181,232,085	D2205E	probably benign	Het
Hps6	T	A	19: 46,004,970	S449T	probably benign	Het
Ints10	T	C	8: 68,794,671	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,356,961	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,303,810	V280A	possibly damaging	Het
Klk1b5	A	G	7: 44,220,125	M210V	probably benign	Het
Kmt2c	G	A	5: 25,373,436	A614V	probably benign	Het
Lck	T	A	4: 129,558,086	I45F	probably benign	Het
Lin7a	A	C	10: 107,412,059	E75A	probably damaging	Het
Lrp1	A	T	10: 127,578,673	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 24,914,583	N289K	probably benign	Het
Mknk1	T	A	4: 115,873,231	C178*	probably null	Het
Mtmr6	A	G	14: 60,296,735	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,840,157		probably null	Het
Myh6	T	C	14: 54,944,674	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,635,531	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,927,041	F30S	probably damaging	Het
Nop14	G	T	5: 34,650,328	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Olfr1212	A	G	2: 88,958,867	I134V	probably damaging	Het
Olfr347	A	T	2: 36,734,842	I174F	probably damaging	Het
Olfr775	A	G	10: 129,250,594	E20G	probably benign	Het
Olfr794	A	T	10: 129,571,348	Q231L	probably damaging	Het
Olfr829	A	T	9: 18,857,486	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 97,059,128	S378R	probably damaging	Het
Otof	A	T	5: 30,371,723	Y1775*	probably null	Het
Parp16	T	C	9: 65,215,594	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,164,779	R296H	probably damaging	Het
Pi16	A	T	17: 29,319,387	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,539,452	M190I	probably benign	Het
Plscr4	T	G	9: 92,490,046	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,723,806	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,368,611	L15Q	probably damaging	Het
Ptpn14	C	A	1: 189,839,502	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,954,899	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,497,070	Y342*	probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sltm	A	G	9: 70,543,032	N38S	possibly damaging	Het
Smg1	T	C	7: 118,154,622		probably benign	Het
Spsb1	A	T	4: 149,906,910	V67E	probably damaging	Het
Suox	A	G	10: 128,670,539	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,911,085	I483N	probably damaging	Het
Tbcb	A	T	7: 30,224,499	D198E	possibly damaging	Het
Tbce	T	C	13: 14,019,709	K122E	probably benign	Het
Tcap	T	A	11: 98,384,379	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,041	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,374,503	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,579,943	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,431,355	I50M	probably damaging	Het
Trp53bp2	T	C	1: 182,458,903	W1103R	probably damaging	Het
Ttn	C	T	2: 76,764,033	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,812,738	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,454,554	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,001,995	Y394*	probably null	Het
Zfp212	T	C	6: 47,931,541	S485P	probably benign	Het
Zfp512b	A	T	2: 181,585,735	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,671,741	Y974H	probably damaging	Het

Other mutations in Mbtps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
muskrat	UTSW	8	119538137	missense	probably damaging	1.00
packrat	UTSW	8	119528961	missense	probably damaging	1.00
woodrat	UTSW	8	119529030	missense	probably damaging	1.00
R0194:Mbtps1	UTSW	8	119535369	missense	probably damaging	1.00
R0270:Mbtps1	UTSW	8	119538117	splice site	probably benign
R0485:Mbtps1	UTSW	8	119522601	splice site	probably benign
R1269:Mbtps1	UTSW	8	119520277	missense	probably damaging	1.00
R1351:Mbtps1	UTSW	8	119518162	missense	possibly damaging	0.95
R1536:Mbtps1	UTSW	8	119546125	missense	probably benign	0.01
R1542:Mbtps1	UTSW	8	119546247	splice site	probably null
R1543:Mbtps1	UTSW	8	119542069	splice site	probably benign
R1580:Mbtps1	UTSW	8	119538900	missense	possibly damaging	0.79
R1587:Mbtps1	UTSW	8	119518219	missense	probably damaging	0.96
R1715:Mbtps1	UTSW	8	119542730	missense	probably benign	0.40
R2147:Mbtps1	UTSW	8	119538859	missense	probably benign	0.01
R2157:Mbtps1	UTSW	8	119542727	missense	probably benign	0.01
R2416:Mbtps1	UTSW	8	119538917	missense	probably damaging	1.00
R2910:Mbtps1	UTSW	8	119546037	missense	possibly damaging	0.82
R2911:Mbtps1	UTSW	8	119546037	missense	possibly damaging	0.82
R3079:Mbtps1	UTSW	8	119531205	missense	probably benign	0.40
R3079:Mbtps1	UTSW	8	119538863	missense	probably damaging	1.00
R3080:Mbtps1	UTSW	8	119531205	missense	probably benign	0.40
R3080:Mbtps1	UTSW	8	119538863	missense	probably damaging	1.00
R4116:Mbtps1	UTSW	8	119541652	missense	probably benign	0.00
R4296:Mbtps1	UTSW	8	119522499	missense	possibly damaging	0.95
R4602:Mbtps1	UTSW	8	119535347	missense	probably damaging	1.00
R4603:Mbtps1	UTSW	8	119535347	missense	probably damaging	1.00
R4610:Mbtps1	UTSW	8	119535347	missense	probably damaging	1.00
R4611:Mbtps1	UTSW	8	119535347	missense	probably damaging	1.00
R4729:Mbtps1	UTSW	8	119525420	missense	probably damaging	1.00
R4868:Mbtps1	UTSW	8	119508928	missense	probably benign	0.01
R4893:Mbtps1	UTSW	8	119518193	missense	probably damaging	1.00
R4999:Mbtps1	UTSW	8	119533348	missense	probably damaging	1.00
R6056:Mbtps1	UTSW	8	119515602	missense	probably benign
R6062:Mbtps1	UTSW	8	119531091	missense	possibly damaging	0.94
R6237:Mbtps1	UTSW	8	119528961	missense	probably damaging	1.00
R6617:Mbtps1	UTSW	8	119538137	missense	probably damaging	1.00
R7215:Mbtps1	UTSW	8	119524568	missense	possibly damaging	0.82
R7275:Mbtps1	UTSW	8	119542750	missense	probably benign
R7794:Mbtps1	UTSW	8	119538884	missense	probably damaging	1.00
RF019:Mbtps1	UTSW	8	119525550	missense	probably damaging	1.00
X0017:Mbtps1	UTSW	8	119531124	missense	probably damaging	1.00
X0027:Mbtps1	UTSW	8	119522547	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGTCAGCTGAGCATTCCGAC -3'
(R):5'- ATGTTACCATGGCTCGTGC -3'

Sequencing Primer
(F):5'- GCATTCCGACCACTAGTGAGTATG -3'
(R):5'- TTGTCTGACACAGGCGATGC -3'

Posted On

2014-06-23