Incidental Mutation 'IGL00647:Prss40'
ID13189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss40
Ensembl Gene ENSMUSG00000037529
Gene Nameprotease, serine 40
SynonymsTesp2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL00647
Quality Score
Status
Chromosome1
Chromosomal Location34543968-34560943 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34552539 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 352 (T352A)
Ref Sequence ENSEMBL: ENSMUSP00000045118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]
Predicted Effect probably benign
Transcript: ENSMUST00000047840
AA Change: T352A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: T352A

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
Tryp_SPc 68 308 1.45e-71 SMART
low complexity region 309 319 N/A INTRINSIC
low complexity region 354 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115071
SMART Domains Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529

DomainStartEndE-ValueType
Tryp_SPc 1 146 8.36e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190790
SMART Domains Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529

DomainStartEndE-ValueType
Tryp_SPc 4 145 2.3e-7 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C9 C A 15: 6,483,083 H229N probably benign Het
Ctsr T C 13: 61,162,742 N63S probably damaging Het
Gmfb C T 14: 46,817,381 probably null Het
Itsn2 T C 12: 4,613,311 probably benign Het
Mfap5 G A 6: 122,526,016 V62M probably damaging Het
Mmp2 A G 8: 92,830,684 T73A probably benign Het
Rag2 A G 2: 101,630,617 D424G probably benign Het
Slc3a1 T A 17: 85,063,805 V595D probably damaging Het
Tomm22 T A 15: 79,671,898 F27I probably damaging Het
Tshr A G 12: 91,537,500 E404G probably damaging Het
Zfp518a C T 19: 40,914,686 P1020S probably damaging Het
Other mutations in Prss40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01298:Prss40 APN 1 34560766 missense probably benign
IGL01694:Prss40 APN 1 34556097 missense probably benign 0.02
IGL03030:Prss40 APN 1 34558101 missense probably damaging 0.99
IGL03393:Prss40 APN 1 34558101 missense probably damaging 0.99
R0294:Prss40 UTSW 1 34556081 missense possibly damaging 0.58
R1450:Prss40 UTSW 1 34556097 missense probably benign 0.02
R1987:Prss40 UTSW 1 34558014 missense possibly damaging 0.75
R2356:Prss40 UTSW 1 34559903 nonsense probably null
R2395:Prss40 UTSW 1 34559905 missense possibly damaging 0.86
R4042:Prss40 UTSW 1 34560879 nonsense probably null
R4043:Prss40 UTSW 1 34560879 nonsense probably null
R4044:Prss40 UTSW 1 34560879 nonsense probably null
R4232:Prss40 UTSW 1 34560792 missense probably benign 0.07
R5418:Prss40 UTSW 1 34560759 missense probably benign 0.00
R5539:Prss40 UTSW 1 34552679 makesense probably null
R5719:Prss40 UTSW 1 34552517 utr 3 prime probably benign
R6365:Prss40 UTSW 1 34552517 utr 3 prime probably benign
Posted On2012-12-06