Incidental Mutation 'IGL02224:Prss39'
ID285268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss39
Ensembl Gene ENSMUSG00000026125
Gene Nameprotease, serine 39
SynonymsTesp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02224
Quality Score
Status
Chromosome1
Chromosomal Location34498410-34503063 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34499378 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 108 (H108R)
Ref Sequence ENSEMBL: ENSMUSP00000140460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027299] [ENSMUST00000191604]
Predicted Effect probably damaging
Transcript: ENSMUST00000027299
AA Change: H108R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027299
Gene: ENSMUSG00000026125
AA Change: H108R

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
Tryp_SPc 67 307 7.97e-60 SMART
low complexity region 348 361 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191604
AA Change: H108R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140460
Gene: ENSMUSG00000026125
AA Change: H108R

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
low complexity region 35 47 N/A INTRINSIC
Pfam:Trypsin 68 114 1.5e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Prss39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Prss39 APN 1 34502135 missense probably benign 0.01
IGL01468:Prss39 APN 1 34499400 splice site probably benign
IGL01744:Prss39 APN 1 34502199 splice site probably null
R0128:Prss39 UTSW 1 34502200 unclassified probably benign
R0130:Prss39 UTSW 1 34502200 unclassified probably benign
R0269:Prss39 UTSW 1 34500198 missense probably damaging 0.96
R0617:Prss39 UTSW 1 34500198 missense probably damaging 0.96
R1078:Prss39 UTSW 1 34502086 missense probably benign 0.00
R1539:Prss39 UTSW 1 34498535 missense possibly damaging 0.85
R1796:Prss39 UTSW 1 34500033 missense possibly damaging 0.70
R4644:Prss39 UTSW 1 34502126 missense probably damaging 0.96
R5417:Prss39 UTSW 1 34500128 missense probably benign
R5496:Prss39 UTSW 1 34500261 missense possibly damaging 0.92
R5511:Prss39 UTSW 1 34502797 missense possibly damaging 0.65
R5977:Prss39 UTSW 1 34502702 missense probably damaging 1.00
R6333:Prss39 UTSW 1 34500069 missense probably benign 0.02
R6833:Prss39 UTSW 1 34498616 missense possibly damaging 0.84
R6834:Prss39 UTSW 1 34498616 missense possibly damaging 0.84
R7230:Prss39 UTSW 1 34502147 missense probably damaging 0.98
R7261:Prss39 UTSW 1 34500288 missense probably damaging 0.99
R7467:Prss39 UTSW 1 34499392 critical splice donor site probably null
R7509:Prss39 UTSW 1 34500199 missense possibly damaging 0.85
R7709:Prss39 UTSW 1 34502628 missense probably damaging 1.00
R7894:Prss39 UTSW 1 34500227 missense probably benign 0.16
R8730:Prss39 UTSW 1 34500117 missense probably damaging 1.00
Posted On2015-04-16