Incidental Mutation 'IGL03393:Prss40'
ID 421131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss40
Ensembl Gene ENSMUSG00000037529
Gene Name serine protease 40
Synonyms Tesp2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03393
Quality Score
Status
Chromosome 1
Chromosomal Location 34583049-34600024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 34597182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 122 (V122G)
Ref Sequence ENSEMBL: ENSMUSP00000045118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]
AlphaFold A6H6T1
Predicted Effect probably damaging
Transcript: ENSMUST00000047840
AA Change: V122G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: V122G

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: S132A
SMART Domains Protein: ENSMUSP00000110723
Gene: ENSMUSG00000037529
AA Change: S132A

DomainStartEndE-ValueType
Tryp_SPc 1 146 8.36e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000190790
AA Change: V4G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529
AA Change: V4G

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 86,909,902 (GRCm39) probably benign Het
Adamts5 G T 16: 85,665,083 (GRCm39) S627Y probably damaging Het
Allc G A 12: 28,610,010 (GRCm39) R196C probably damaging Het
Ccdc65 A C 15: 98,618,568 (GRCm39) E241A probably benign Het
Dclk3 T C 9: 111,317,741 (GRCm39) probably benign Het
Fzd4 T C 7: 89,056,505 (GRCm39) V184A probably benign Het
Gfap T A 11: 102,784,083 (GRCm39) probably null Het
Gpr149 A G 3: 62,511,366 (GRCm39) V211A probably benign Het
Gprc6a A G 10: 51,491,355 (GRCm39) I623T probably damaging Het
Gucy2c T C 6: 136,696,665 (GRCm39) T687A probably benign Het
Kcnc4 T G 3: 107,355,243 (GRCm39) M402L possibly damaging Het
Ktn1 T C 14: 47,928,391 (GRCm39) L584S probably damaging Het
Mrgprb2 C T 7: 48,202,650 (GRCm39) S25N probably benign Het
Muc5b T A 7: 141,417,875 (GRCm39) V3607E probably benign Het
Or4c58 C A 2: 89,674,913 (GRCm39) V135L probably benign Het
Or6c3b T C 10: 129,527,147 (GRCm39) I254M probably damaging Het
Otx2 A G 14: 48,898,781 (GRCm39) I75T probably damaging Het
Pabpc4l T C 3: 46,400,972 (GRCm39) D224G probably damaging Het
Peg3 A T 7: 6,710,648 (GRCm39) C1525S probably damaging Het
Polq A T 16: 36,865,156 (GRCm39) L669F probably damaging Het
Rims2 A G 15: 39,326,009 (GRCm39) probably null Het
Rrp12 A T 19: 41,860,232 (GRCm39) M997K possibly damaging Het
Sbno2 G A 10: 79,902,735 (GRCm39) R414W probably damaging Het
Scn1a T C 2: 66,148,362 (GRCm39) D41G probably benign Het
Serpinb1c A T 13: 33,066,044 (GRCm39) D300E probably damaging Het
Timeless G A 10: 128,087,924 (GRCm39) D1165N probably damaging Het
Tnpo1 T G 13: 99,024,981 (GRCm39) K66N probably damaging Het
Trappc11 A T 8: 47,963,912 (GRCm39) N629K possibly damaging Het
Ubr4 T A 4: 139,179,989 (GRCm39) L255M probably damaging Het
Vmn1r10 T A 6: 57,091,042 (GRCm39) Y211* probably null Het
Vmn2r76 T G 7: 85,879,034 (GRCm39) N422T probably benign Het
Xylt1 C A 7: 117,192,940 (GRCm39) N415K probably damaging Het
Zfp786 A T 6: 47,798,458 (GRCm39) V160E possibly damaging Het
Other mutations in Prss40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Prss40 APN 1 34,591,620 (GRCm39) missense probably benign 0.01
IGL01298:Prss40 APN 1 34,599,847 (GRCm39) missense probably benign
IGL01694:Prss40 APN 1 34,595,178 (GRCm39) missense probably benign 0.02
IGL03030:Prss40 APN 1 34,597,182 (GRCm39) missense probably damaging 0.99
R0294:Prss40 UTSW 1 34,595,162 (GRCm39) missense possibly damaging 0.58
R1450:Prss40 UTSW 1 34,595,178 (GRCm39) missense probably benign 0.02
R1987:Prss40 UTSW 1 34,597,095 (GRCm39) missense possibly damaging 0.75
R2356:Prss40 UTSW 1 34,598,984 (GRCm39) nonsense probably null
R2395:Prss40 UTSW 1 34,598,986 (GRCm39) missense possibly damaging 0.86
R4042:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4043:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4044:Prss40 UTSW 1 34,599,960 (GRCm39) nonsense probably null
R4232:Prss40 UTSW 1 34,599,873 (GRCm39) missense probably benign 0.07
R5418:Prss40 UTSW 1 34,599,840 (GRCm39) missense probably benign 0.00
R5539:Prss40 UTSW 1 34,591,760 (GRCm39) makesense probably null
R5719:Prss40 UTSW 1 34,591,598 (GRCm39) utr 3 prime probably benign
R6365:Prss40 UTSW 1 34,591,598 (GRCm39) utr 3 prime probably benign
R7002:Prss40 UTSW 1 34,591,481 (GRCm39) splice site probably null
R7366:Prss40 UTSW 1 34,598,952 (GRCm39) nonsense probably null
R7521:Prss40 UTSW 1 34,597,090 (GRCm39) missense probably benign 0.03
R7777:Prss40 UTSW 1 34,591,846 (GRCm39) nonsense probably null
R8138:Prss40 UTSW 1 34,597,080 (GRCm39) missense probably damaging 0.99
R8360:Prss40 UTSW 1 34,599,876 (GRCm39) missense probably benign 0.00
R8542:Prss40 UTSW 1 34,596,967 (GRCm39) missense probably damaging 1.00
R8904:Prss40 UTSW 1 34,595,045 (GRCm39) splice site probably benign
R9399:Prss40 UTSW 1 34,591,794 (GRCm39) missense probably damaging 1.00
R9532:Prss40 UTSW 1 34,597,106 (GRCm39) missense probably damaging 1.00
Z1176:Prss40 UTSW 1 34,598,860 (GRCm39) missense possibly damaging 0.85
Z1177:Prss40 UTSW 1 34,599,900 (GRCm39) nonsense probably null
Z1177:Prss40 UTSW 1 34,591,667 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02