Incidental Mutation 'IGL01694:Prss40'
ID 104205
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 # IGL01694
Quality Score
Status
Chromosome 1
Chromosomal Location 34583049-34600024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34595178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 101 (I101F)
Ref Sequence ENSEMBL: ENSMUSP00000140885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047840] [ENSMUST00000115071] [ENSMUST00000190790]
AlphaFold A6H6T1
Predicted Effect probably benign
Transcript: ENSMUST00000047840
AA Change: I219F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000045118
Gene: ENSMUSG00000037529
AA Change: I219F

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
AA Change: I101F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140885
Gene: ENSMUSG00000037529
AA Change: I101F

DomainStartEndE-ValueType
Tryp_SPc 4 145 2.3e-7 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A G 14: 35,818,659 (GRCm39) *219W probably null Het
Abi1 G A 2: 22,850,725 (GRCm39) T238M probably damaging Het
Agbl2 C T 2: 90,631,418 (GRCm39) L259F probably damaging Het
Cacna1g T A 11: 94,319,938 (GRCm39) I1413F probably damaging Het
Ddx21 T A 10: 62,434,430 (GRCm39) K110* probably null Het
Dnm1l A T 16: 16,134,515 (GRCm39) I463N probably benign Het
Dst C A 1: 34,227,241 (GRCm39) H1286Q probably benign Het
Elmo2 A T 2: 165,156,693 (GRCm39) N67K probably benign Het
Eps8l3 G A 3: 107,799,624 (GRCm39) C578Y probably damaging Het
Fam83b T A 9: 76,398,272 (GRCm39) I944F probably benign Het
Itga10 A T 3: 96,559,833 (GRCm39) D496V probably damaging Het
Lama2 T G 10: 26,882,738 (GRCm39) K2608N possibly damaging Het
Lap3 T A 5: 45,655,937 (GRCm39) probably null Het
Madd T C 2: 90,988,320 (GRCm39) probably benign Het
Mdh1b T A 1: 63,750,265 (GRCm39) probably benign Het
Ncapg2 G A 12: 116,370,850 (GRCm39) probably benign Het
Opalin A G 19: 41,052,239 (GRCm39) probably benign Het
Or4e2 A G 14: 52,688,041 (GRCm39) N57S probably benign Het
Plxna3 T A X: 73,382,114 (GRCm39) D1291E probably damaging Het
Rpl5 T C 5: 108,055,106 (GRCm39) Y253H probably benign Het
Sephs2 A G 7: 126,872,259 (GRCm39) I278T probably benign Het
Slc25a34 G A 4: 141,349,564 (GRCm39) A197V probably benign Het
Slco6d1 C T 1: 98,427,570 (GRCm39) R634W probably damaging Het
Smarca4 C A 9: 21,577,166 (GRCm39) A871D probably damaging Het
Speer2 C T 16: 69,655,000 (GRCm39) S155N probably damaging Het
Speer2 T A 16: 69,655,001 (GRCm39) S155C probably damaging Het
Spink12 T A 18: 44,240,827 (GRCm39) V71E probably damaging Het
Tecta T C 9: 42,278,475 (GRCm39) D1011G possibly damaging Het
Tmtc4 G A 14: 123,210,624 (GRCm39) T78I possibly damaging Het
Tub T C 7: 108,620,243 (GRCm39) probably benign Het
Vps13c T A 9: 67,802,631 (GRCm39) V644D probably damaging Het
Zfp7 C T 15: 76,774,995 (GRCm39) Q346* probably null 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
IGL03030:Prss40 APN 1 34,597,182 (GRCm39) missense probably damaging 0.99
IGL03393: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 2014-01-21