Incidental Mutation 'R1845:Mbtps1'
ID 207652
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 039870-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1845 (G1)
Quality Score 215
Status Not validated
Chromosome 8
Chromosomal Location 120234895-120285474 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120249232 bp (GRCm39)
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]
AlphaFold Q9WTZ2
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

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 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

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Abca17 A T 17: 24,486,690 (GRCm39) C1446S probably damaging Het
Asb16 C A 11: 102,167,582 (GRCm39) A316E possibly damaging Het
Axdnd1 C T 1: 156,204,114 (GRCm39) V384I possibly damaging Het
BC024139 A T 15: 76,009,461 (GRCm39) L207* probably null Het
Bcl3 T G 7: 19,543,552 (GRCm39) S305R probably damaging Het
Cachd1 T C 4: 100,634,555 (GRCm39) V77A probably benign Het
Cd101 C T 3: 100,936,764 (GRCm39) probably null Het
Cela1 T C 15: 100,583,048 (GRCm39) N64S probably benign Het
Cep128 T C 12: 91,256,372 (GRCm39) D366G probably benign Het
Col12a1 A G 9: 79,604,823 (GRCm39) V675A probably benign Het
Copg1 A G 6: 87,870,800 (GRCm39) Y201C probably damaging Het
Cyp24a1 T C 2: 170,329,837 (GRCm39) R372G probably benign Het
Dcaf1 A C 9: 106,729,161 (GRCm39) I567L probably benign Het
Dcn A G 10: 97,342,536 (GRCm39) D164G probably benign Het
Dnase2a T A 8: 85,635,951 (GRCm39) H113Q probably benign Het
Espl1 T C 15: 102,207,448 (GRCm39) V304A probably benign Het
Fam193a A G 5: 34,600,716 (GRCm39) D315G possibly damaging Het
Fkbp8 T A 8: 70,983,685 (GRCm39) probably null Het
Foxp4 T A 17: 48,188,884 (GRCm39) T321S probably null Het
Fut10 A G 8: 31,726,328 (GRCm39) N361S probably damaging Het
Gyg1 A T 3: 20,205,286 (GRCm39) V94D probably damaging Het
Has2 T C 15: 56,531,974 (GRCm39) K247R probably damaging Het
Helz2 G T 2: 180,873,878 (GRCm39) D2205E probably benign Het
Hps6 T A 19: 45,993,409 (GRCm39) S449T probably benign Het
Ints10 T C 8: 69,247,323 (GRCm39) Y64H probably damaging Het
Kalrn T C 16: 34,177,331 (GRCm39) H278R probably damaging Het
Klhdc8a T C 1: 132,231,548 (GRCm39) V280A possibly damaging Het
Klk1b5 A G 7: 43,869,549 (GRCm39) M210V probably benign Het
Kmt2c G A 5: 25,578,434 (GRCm39) A614V probably benign Het
Lck T A 4: 129,451,879 (GRCm39) I45F probably benign Het
Lin7a A C 10: 107,247,920 (GRCm39) E75A probably damaging Het
Lrp1 A T 10: 127,414,542 (GRCm39) C1070S probably damaging Het
Mapk8ip3 G T 17: 25,133,557 (GRCm39) N289K probably benign Het
Mknk1 T A 4: 115,730,428 (GRCm39) C178* probably null Het
Mtmr6 A G 14: 60,534,184 (GRCm39) N474S probably damaging Het
Mvb12b A G 2: 33,730,169 (GRCm39) probably null Het
Myh6 T C 14: 55,182,131 (GRCm39) K1759R probably damaging Het
Nfatc1 T C 18: 80,678,746 (GRCm39) K881E possibly damaging Het
Nlrp10 A G 7: 108,526,248 (GRCm39) F30S probably damaging Het
Nop14 G T 5: 34,807,672 (GRCm39) A430E possibly damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or1j18 A T 2: 36,624,854 (GRCm39) I174F probably damaging Het
Or4c107 A G 2: 88,789,211 (GRCm39) I134V probably damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Or6c205 A G 10: 129,086,463 (GRCm39) E20G probably benign Het
Or6c88 A T 10: 129,407,217 (GRCm39) Q231L probably damaging Het
Or7g17 A T 9: 18,768,782 (GRCm39) Y287F possibly damaging Het
Osbpl7 C A 11: 96,949,954 (GRCm39) S378R probably damaging Het
Otof A T 5: 30,529,067 (GRCm39) Y1775* probably null Het
Parp16 T C 9: 65,122,876 (GRCm39) S46P possibly damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Pi16 A T 17: 29,538,361 (GRCm39) Q58L possibly damaging Het
Pld3 C A 7: 27,238,877 (GRCm39) M190I probably benign Het
Plscr4 T G 9: 92,372,099 (GRCm39) I290S probably damaging Het
Ppip5k2 T C 1: 97,651,531 (GRCm39) D928G possibly damaging Het
Ppp1r13l T A 7: 19,102,536 (GRCm39) L15Q probably damaging Het
Prorp T A 12: 55,351,117 (GRCm39) I142N possibly damaging Het
Ptpn14 C A 1: 189,571,699 (GRCm39) S263R possibly damaging Het
Sema7a G A 9: 57,862,182 (GRCm39) V178I possibly damaging Het
Sesn2 A T 4: 132,224,381 (GRCm39) Y342* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sltm A G 9: 70,450,314 (GRCm39) N38S possibly damaging Het
Smg1 T C 7: 117,753,845 (GRCm39) probably benign Het
Spsb1 A T 4: 149,991,367 (GRCm39) V67E probably damaging Het
Suox A G 10: 128,506,408 (GRCm39) V540A possibly damaging Het
Tbc1d12 T A 19: 38,899,529 (GRCm39) I483N probably damaging Het
Tbcb A T 7: 29,923,924 (GRCm39) D198E possibly damaging Het
Tbce T C 13: 14,194,294 (GRCm39) K122E probably benign Het
Tcap T A 11: 98,275,205 (GRCm39) L113H probably damaging Het
Thsd7a A T 6: 12,321,040 (GRCm39) I1545N probably damaging Het
Tmed10 T C 12: 85,421,277 (GRCm39) T55A possibly damaging Het
Tmem268 T A 4: 63,498,180 (GRCm39) V200D probably damaging Het
Tmem45b A C 9: 31,342,651 (GRCm39) I50M probably damaging Het
Trp53bp2 T C 1: 182,286,468 (GRCm39) W1103R probably damaging Het
Ttn C T 2: 76,594,377 (GRCm39) V20524M probably damaging Het
Ulk2 A T 11: 61,703,564 (GRCm39) N379K probably benign Het
Vmn1r59 A G 7: 5,457,553 (GRCm39) V69A probably benign Het
Vmn2r10 A T 5: 109,149,861 (GRCm39) Y394* probably null Het
Zfp212 T C 6: 47,908,475 (GRCm39) S485P probably benign Het
Zfp512b A T 2: 181,227,528 (GRCm39) C776S probably damaging Het
Zfp518b A G 5: 38,829,084 (GRCm39) Y974H 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
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'- TAGTCAGCTGAGCATTCCGAC -3'
(R):5'- ATGTTACCATGGCTCGTGC -3'

Sequencing Primer
(F):5'- GCATTCCGACCACTAGTGAGTATG -3'
(R):5'- TTGTCTGACACAGGCGATGC -3'
Posted On 2014-06-23