Incidental Mutation 'R3080:Mbtps1'
ID 265387
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 040570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3080 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 120234895-120285474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120265602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 315 (D315G)
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: D315G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080117
Gene: ENSMUSG00000031835
AA Change: D315G

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 probably damaging
Transcript: ENSMUST00000098362
AA Change: D315G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095965
Gene: ENSMUSG00000031835
AA Change: D315G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amer3 T G 1: 34,627,503 (GRCm39) L581V probably benign Het
Anks4b A T 7: 119,781,146 (GRCm39) D59V probably damaging Het
Cdc42bpb A G 12: 111,262,252 (GRCm39) I75T probably damaging Het
Ces1c A C 8: 93,846,975 (GRCm39) L93R probably damaging Het
Ciao2b G C 8: 105,368,259 (GRCm39) R22G possibly damaging Het
Clca4a T A 3: 144,669,551 (GRCm39) K333N probably damaging Het
Copa G T 1: 171,940,716 (GRCm39) D710Y probably damaging Het
Cyp3a25 T A 5: 145,935,341 (GRCm39) I92F probably benign Het
Dcx T A X: 142,706,266 (GRCm39) D175V probably damaging Het
Fam76b G A 9: 13,744,458 (GRCm39) G185D probably benign Het
Fastkd5 T C 2: 130,457,373 (GRCm39) M406V possibly damaging Het
Fbn2 G A 18: 58,282,122 (GRCm39) S298L probably damaging Het
Gak T C 5: 108,761,468 (GRCm39) K188E possibly damaging Het
Gemin2 G A 12: 59,071,877 (GRCm39) C230Y probably damaging Het
Gm5150 A C 3: 16,045,085 (GRCm39) S47A possibly damaging Het
H3c2 A G 13: 23,936,481 (GRCm39) H40R possibly damaging Het
Herc3 A T 6: 58,833,631 (GRCm39) probably null Het
Ighv5-6 T A 12: 113,589,237 (GRCm39) D81V probably damaging Het
Igkv13-54-1 A G 6: 69,594,454 (GRCm39) probably null Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Ltbp3 GTA GTATA 19: 5,806,916 (GRCm39) probably null Het
Map4k2 G A 19: 6,403,218 (GRCm39) E774K probably damaging Het
Nebl A G 2: 17,381,462 (GRCm39) V738A possibly damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or14j4 T C 17: 37,921,169 (GRCm39) T158A probably benign Het
Or6d14 T G 6: 116,534,178 (GRCm39) V264G probably damaging Het
Pcdhb3 T G 18: 37,434,535 (GRCm39) L167R probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Shcbp1l A G 1: 153,311,783 (GRCm39) E312G possibly damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc1a2 T G 2: 102,578,901 (GRCm39) L272R probably damaging Het
Slc35a5 A T 16: 44,964,758 (GRCm39) S152T probably benign Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tbr1 C T 2: 61,637,635 (GRCm39) Q65* probably null Het
Tro G A X: 149,438,198 (GRCm39) T153I probably benign Het
Vmn1r222 A G 13: 23,416,631 (GRCm39) M194T possibly damaging Het
Vmn2r1 A G 3: 63,997,205 (GRCm39) D287G probably damaging Het
Vmn2r91 T G 17: 18,355,973 (GRCm39) probably null Het
Zfp35 T A 18: 24,136,367 (GRCm39) I237N probably 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
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 8 120,257,944 (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'- ACTGGGTTTGTAACATGCAAGTTTC -3'
(R):5'- GCTTGGAACTTCAAAGCCC -3'

Sequencing Primer
(F):5'- TCTGAAATTCATGTCACTAACCAGC -3'
(R):5'- AAGAGTGTGCTTGTCCTTAGAAAGC -3'
Posted On 2015-02-05