Incidental Mutation 'IGL01298:Prss40'
ID73196
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? Non essential (E-score: 0.000) question?
Stock #IGL01298
Quality Score
Status
Chromosome1
Chromosomal Location34543968-34560943 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 34560766 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 47 (I47L)
Ref Sequence ENSEMBL: ENSMUSP00000045118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]
Predicted Effect probably benign
Transcript: ENSMUST00000047840
AA Change: I47L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: I47L

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 unknown
Transcript: ENSMUST00000115071
AA Change: I47L
SMART Domains Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529
AA Change: I47L

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adora2a G T 10: 75,333,492 W263C probably damaging Het
Agtpbp1 G A 13: 59,504,226 H424Y possibly damaging Het
Angpt2 T G 8: 18,710,528 N186T probably benign Het
Ank2 A G 3: 126,959,720 V304A possibly damaging Het
Atg3 T C 16: 45,171,673 M88T possibly damaging Het
Baz1a G T 12: 54,954,809 P142Q probably damaging Het
Btbd1 G T 7: 81,794,307 probably null Het
Cacnb3 T C 15: 98,639,853 Y70H probably damaging Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cyp7a1 A T 4: 6,275,517 W19R probably damaging Het
Dock10 T A 1: 80,531,245 I1610F probably damaging Het
Gm11444 C A 11: 85,848,094 D58Y unknown Het
Gm7168 A T 17: 13,949,858 T496S probably benign Het
Gpc5 A G 14: 115,399,188 S428G probably benign Het
Haus8 T C 8: 71,253,113 E309G probably damaging Het
Ice1 A G 13: 70,604,904 L1021P possibly damaging Het
Krtap14 A T 16: 88,825,727 H121Q probably benign Het
Nwd1 T C 8: 72,662,331 V170A probably benign Het
Olfr338 T A 2: 36,377,448 M224K probably benign Het
Olfr803 T C 10: 129,692,029 Y4C probably damaging Het
Olfr938 G A 9: 39,078,724 T7I possibly damaging Het
Pfpl T C 19: 12,428,673 M96T possibly damaging Het
Pramel5 A G 4: 144,271,162 probably benign Het
Proc T C 18: 32,123,552 N354S probably benign Het
Tmprss7 T C 16: 45,664,175 R541G probably benign Het
Togaram2 T C 17: 71,716,513 V788A possibly damaging Het
Trbv19 T C 6: 41,178,904 Y70H probably damaging Het
Ttk C T 9: 83,865,142 S678L probably benign Het
Vmn2r85 T C 10: 130,418,821 T665A probably benign Het
Other mutations in Prss40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Prss40 APN 1 34552539 missense probably benign 0.01
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
R7002:Prss40 UTSW 1 34552400 splice site probably null
R7366:Prss40 UTSW 1 34559871 nonsense probably null
R7521:Prss40 UTSW 1 34558009 missense probably benign 0.03
R7777:Prss40 UTSW 1 34552765 nonsense probably null
R8138:Prss40 UTSW 1 34557999 missense probably damaging 0.99
R8360:Prss40 UTSW 1 34560795 missense probably benign 0.00
R8542:Prss40 UTSW 1 34557886 missense probably damaging 1.00
Z1176:Prss40 UTSW 1 34559779 missense possibly damaging 0.85
Z1177:Prss40 UTSW 1 34552586 missense probably benign 0.00
Z1177:Prss40 UTSW 1 34560819 nonsense probably null
Posted On2013-10-07