Incidental Mutation 'IGL01123:Scpep1'
ID 52342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Scpep1
Ensembl Gene ENSMUSG00000000278
Gene Name serine carboxypeptidase 1
Synonyms 2410018F01Rik, Risc, 4833411K15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01123
Quality Score
Status
Chromosome 11
Chromosomal Location 88814846-88846268 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88832154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 192 (N192S)
Ref Sequence ENSEMBL: ENSMUSP00000000287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000287]
AlphaFold Q920A5
Predicted Effect possibly damaging
Transcript: ENSMUST00000000287
AA Change: N192S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000287
Gene: ENSMUSG00000000278
AA Change: N192S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Peptidase_S10 29 451 2e-99 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele exhibit no abnormal phenotype. Mice homozygous for a knock-out allele exhibit abnormal blood vessel healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Scpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Scpep1 APN 11 88,843,303 (GRCm39) missense probably damaging 1.00
IGL02341:Scpep1 APN 11 88,835,314 (GRCm39) missense probably benign 0.30
IGL03078:Scpep1 APN 11 88,826,657 (GRCm39) missense possibly damaging 0.67
IGL03014:Scpep1 UTSW 11 88,824,271 (GRCm39) splice site probably null
R1652:Scpep1 UTSW 11 88,843,260 (GRCm39) nonsense probably null
R1966:Scpep1 UTSW 11 88,843,240 (GRCm39) missense probably damaging 1.00
R4275:Scpep1 UTSW 11 88,837,968 (GRCm39) splice site probably null
R4330:Scpep1 UTSW 11 88,826,729 (GRCm39) nonsense probably null
R4331:Scpep1 UTSW 11 88,826,729 (GRCm39) nonsense probably null
R4360:Scpep1 UTSW 11 88,821,070 (GRCm39) missense possibly damaging 0.78
R4502:Scpep1 UTSW 11 88,835,211 (GRCm39) missense probably benign 0.00
R4885:Scpep1 UTSW 11 88,826,737 (GRCm39) missense probably benign 0.20
R4896:Scpep1 UTSW 11 88,832,122 (GRCm39) missense probably damaging 1.00
R5010:Scpep1 UTSW 11 88,832,175 (GRCm39) missense probably benign 0.30
R5229:Scpep1 UTSW 11 88,827,871 (GRCm39) missense probably damaging 1.00
R5899:Scpep1 UTSW 11 88,825,402 (GRCm39) critical splice donor site probably null
R5999:Scpep1 UTSW 11 88,820,139 (GRCm39) missense possibly damaging 0.85
R6975:Scpep1 UTSW 11 88,838,031 (GRCm39) missense probably damaging 0.98
R7098:Scpep1 UTSW 11 88,820,011 (GRCm39) missense possibly damaging 0.59
R7637:Scpep1 UTSW 11 88,820,046 (GRCm39) missense probably damaging 1.00
R7790:Scpep1 UTSW 11 88,824,347 (GRCm39) missense possibly damaging 0.70
R8285:Scpep1 UTSW 11 88,843,293 (GRCm39) missense probably damaging 1.00
R8750:Scpep1 UTSW 11 88,835,298 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21