Incidental Mutation 'R1580:Mbtps1'
ID 171358
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 039617-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120234895-120285474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120265639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 303 (V303I)
Ref Sequence ENSEMBL: ENSMUSP00000095965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081381] [ENSMUST00000098362]
AlphaFold Q9WTZ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000081381
AA Change: V303I

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: V303I

DomainStartEndE-ValueType
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: V303I

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: V303I

DomainStartEndE-ValueType
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Mbtps1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCTAACCGTCTGTTTCACAAAGCTG -3'
(R):5'- GCCCACTTCTTGGTGCAGGTTC -3'

Sequencing Primer
(F):5'- CAAAGCTGTCATTACCTCAGTG -3'
(R):5'- CGTGCTTTGCTTGGAACTTC -3'
Posted On 2014-04-13