Incidental Mutation 'IGL01108:Prss58'
ID 51327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss58
Ensembl Gene ENSMUSG00000051936
Gene Name serine protease 58
Synonyms BC048599
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # IGL01108
Quality Score
Status
Chromosome 6
Chromosomal Location 40872204-40877321 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40874278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 133 (C133R)
Ref Sequence ENSEMBL: ENSMUSP00000069833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063523]
AlphaFold Q8BW11
Predicted Effect probably damaging
Transcript: ENSMUST00000063523
AA Change: C133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069833
Gene: ENSMUSG00000051936
AA Change: C133R

DomainStartEndE-ValueType
Tryp_SPc 22 234 4.49e-36 SMART
Coding Region Coverage
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 trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah2 A G 19: 31,986,081 (GRCm39) probably benign Het
Baz1a A G 12: 54,963,516 (GRCm39) I856T probably benign Het
Cblb T A 16: 51,867,814 (GRCm39) probably null Het
Cpq A G 15: 33,497,433 (GRCm39) Q391R probably benign Het
Dnah9 T A 11: 65,740,806 (GRCm39) T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 (GRCm39) S63P possibly damaging Het
Ercc3 T C 18: 32,397,638 (GRCm39) V623A probably damaging Het
Fbxw9 A G 8: 85,792,606 (GRCm39) probably benign Het
Gorasp2 T A 2: 70,508,922 (GRCm39) S133R probably damaging Het
Gtf2h1 G A 7: 46,461,922 (GRCm39) A307T probably damaging Het
Hk1 T C 10: 62,132,487 (GRCm39) K186R probably benign Het
Itga11 A G 9: 62,664,903 (GRCm39) E596G probably benign Het
Kcnj13 T C 1: 87,314,659 (GRCm39) I188V probably benign Het
Klhl18 A T 9: 110,257,754 (GRCm39) M492K probably damaging Het
Mctp2 T C 7: 71,835,563 (GRCm39) T545A probably damaging Het
Mgrn1 G T 16: 4,734,019 (GRCm39) probably null Het
Mideas T C 12: 84,220,465 (GRCm39) E163G probably damaging Het
Olfm4 T C 14: 80,259,339 (GRCm39) V529A probably benign Het
Or13f5 C T 4: 52,825,727 (GRCm39) T110I probably damaging Het
Parp4 T G 14: 56,844,897 (GRCm39) I596S probably benign Het
Plppr3 T A 10: 79,703,355 (GRCm39) D43V probably damaging Het
Prss51 A T 14: 64,333,433 (GRCm39) K14I probably damaging Het
Recql5 A T 11: 115,788,007 (GRCm39) N437K probably benign Het
Samd10 A G 2: 181,239,007 (GRCm39) Y135H probably damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Serpina7 C T X: 137,983,886 (GRCm39) V58I probably benign Het
Slf1 A T 13: 77,273,594 (GRCm39) probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Urb1 C T 16: 90,589,702 (GRCm39) A360T probably damaging Het
Ush2a G T 1: 188,595,022 (GRCm39) R3818L probably benign Het
Vmn2r57 C T 7: 41,077,008 (GRCm39) R386K probably benign Het
Wnt3a T C 11: 59,147,135 (GRCm39) N184D probably benign Het
Xpc G A 6: 91,469,987 (GRCm39) R746W probably damaging Het
Other mutations in Prss58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Prss58 APN 6 40,872,399 (GRCm39) missense probably damaging 1.00
IGL01645:Prss58 APN 6 40,874,244 (GRCm39) missense probably damaging 0.98
R0032:Prss58 UTSW 6 40,872,633 (GRCm39) missense probably benign 0.00
R0032:Prss58 UTSW 6 40,872,633 (GRCm39) missense probably benign 0.00
R1622:Prss58 UTSW 6 40,874,248 (GRCm39) missense possibly damaging 0.84
R2511:Prss58 UTSW 6 40,874,734 (GRCm39) missense probably damaging 1.00
R4292:Prss58 UTSW 6 40,874,244 (GRCm39) missense probably damaging 0.98
R5093:Prss58 UTSW 6 40,874,751 (GRCm39) missense probably damaging 1.00
R5601:Prss58 UTSW 6 40,874,783 (GRCm39) missense possibly damaging 0.92
R5992:Prss58 UTSW 6 40,874,703 (GRCm39) missense probably damaging 1.00
R6806:Prss58 UTSW 6 40,874,666 (GRCm39) missense probably damaging 0.98
R7105:Prss58 UTSW 6 40,874,700 (GRCm39) missense probably damaging 1.00
R7136:Prss58 UTSW 6 40,876,987 (GRCm39) critical splice donor site probably null
R7344:Prss58 UTSW 6 40,872,399 (GRCm39) missense probably damaging 1.00
R7699:Prss58 UTSW 6 40,872,322 (GRCm39) missense probably damaging 1.00
R7700:Prss58 UTSW 6 40,872,322 (GRCm39) missense probably damaging 1.00
R7954:Prss58 UTSW 6 40,872,543 (GRCm39) missense possibly damaging 0.92
R8305:Prss58 UTSW 6 40,872,594 (GRCm39) missense probably benign 0.00
R8370:Prss58 UTSW 6 40,872,358 (GRCm39) missense probably damaging 1.00
R9488:Prss58 UTSW 6 40,874,382 (GRCm39) missense probably benign 0.03
Posted On 2013-06-21