Incidental Mutation 'IGL02598:Prss54'
ID299958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Nameprotease, serine 54
Synonyms4931432M23Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL02598
Quality Score
Status
Chromosome8
Chromosomal Location95559069-95576340 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 95565709 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 81 (V81F)
Ref Sequence ENSEMBL: ENSMUSP00000148608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000213096]
Predicted Effect possibly damaging
Transcript: ENSMUST00000052690
AA Change: V81F

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400
AA Change: V81F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 28 253 1.88e-15 SMART
low complexity region 348 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180075
AA Change: V81F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400
AA Change: V81F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 28 253 1.63e-15 SMART
low complexity region 348 359 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212513
Predicted Effect probably damaging
Transcript: ENSMUST00000213096
AA Change: V81F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A T 11: 50,943,621 M1K probably null Het
Abca13 C T 11: 9,431,898 T3850I probably damaging Het
Abcc4 A T 14: 118,668,369 L95* probably null Het
Acacb A G 5: 114,246,037 Y2209C probably damaging Het
Acadm A G 3: 153,938,544 probably benign Het
Arid2 G A 15: 96,371,536 V1177M probably damaging Het
Atp8a1 A T 5: 67,682,756 probably null Het
BC048403 G A 10: 121,739,971 probably benign Het
Catsperd A G 17: 56,647,815 probably null Het
Cd28 A G 1: 60,763,339 probably benign Het
Cep164 A G 9: 45,770,704 Y1934H probably damaging Het
Cep350 T C 1: 155,862,967 I2377V probably benign Het
Csmd3 T C 15: 47,669,690 K1581E probably damaging Het
Dab2 A T 15: 6,429,366 N232I probably damaging Het
Dyrk4 G A 6: 126,884,019 probably benign Het
Efcab14 T A 4: 115,740,434 C75* probably null Het
Elovl1 T C 4: 118,431,419 probably null Het
Eps8l2 T G 7: 141,354,936 probably benign Het
Gm4907 A T X: 23,907,471 T404S probably benign Het
Grik1 A T 16: 87,947,984 V460E probably damaging Het
Gtf2f2 A G 14: 76,007,742 S35P probably benign Het
Ifi203 A G 1: 173,935,002 probably benign Het
Ifi209 T C 1: 173,644,715 V374A probably damaging Het
Lars A G 18: 42,227,277 S705P possibly damaging Het
Lcmt1 A G 7: 123,421,648 probably benign Het
Limd1 T A 9: 123,480,171 Y312N probably benign Het
Limd1 T C 9: 123,516,868 S571P probably benign Het
Lin28b A T 10: 45,420,526 D125E possibly damaging Het
Lmtk3 T C 7: 45,793,140 S416P probably damaging Het
Map7d3 T C X: 56,809,786 T446A probably benign Het
Masp1 T A 16: 23,459,631 M523L probably benign Het
Mroh4 C A 15: 74,611,243 probably null Het
Mtmr6 G A 14: 60,300,504 A651T probably damaging Het
Myocd A G 11: 65,183,470 S738P probably benign Het
Olfr1176 A T 2: 88,340,251 I229F possibly damaging Het
Olfr685 A G 7: 105,180,956 V134A probably damaging Het
Olfr714 A T 7: 107,074,716 N296I possibly damaging Het
Olfr803 A T 10: 129,691,273 I256N possibly damaging Het
Olfr984 A T 9: 40,100,565 F308L probably benign Het
Parg G T 14: 32,214,324 V479L probably damaging Het
Pcdhb10 C A 18: 37,413,781 H637N possibly damaging Het
Plekhg2 G A 7: 28,360,475 T1118I possibly damaging Het
Podxl T C 6: 31,524,420 E400G probably damaging Het
Pzp A G 6: 128,487,457 L1369P probably benign Het
Rfx8 A T 1: 39,695,968 probably benign Het
Rgs6 C T 12: 83,091,797 P302S probably benign Het
Rnf148 A C 6: 23,654,457 I180S probably damaging Het
Sacm1l A G 9: 123,578,996 D350G probably benign Het
Slc33a1 C T 3: 63,943,332 G524S probably benign Het
Slc5a7 A G 17: 54,284,193 V237A probably benign Het
Spink7 T C 18: 62,594,285 D56G probably damaging Het
Syn3 A G 10: 86,467,199 S31P probably damaging Het
Thrb C A 14: 18,008,606 P110Q possibly damaging Het
Vmn2r76 G T 7: 86,228,671 T506K probably benign Het
Vps45 A G 3: 96,031,042 L486P probably benign Het
Zan G A 5: 137,446,211 T1823M unknown Het
Zdhhc6 T A 19: 55,314,527 Q14L probably benign Het
Zfp990 A T 4: 145,536,963 N177I possibly damaging Het
Other mutations in Prss54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Prss54 APN 8 95565609 missense probably benign 0.17
IGL03085:Prss54 APN 8 95565630 missense probably benign 0.02
R0324:Prss54 UTSW 8 95565667 missense probably benign 0.00
R0733:Prss54 UTSW 8 95559740 missense possibly damaging 0.90
R1487:Prss54 UTSW 8 95559648 missense probably benign 0.01
R2272:Prss54 UTSW 8 95571107 nonsense probably null
R4769:Prss54 UTSW 8 95559375 missense probably benign
R5275:Prss54 UTSW 8 95564478 missense probably damaging 1.00
R5295:Prss54 UTSW 8 95564478 missense probably damaging 1.00
R6117:Prss54 UTSW 8 95565458 splice site probably null
R6167:Prss54 UTSW 8 95559545 missense possibly damaging 0.71
R6791:Prss54 UTSW 8 95564655 intron probably null
R7179:Prss54 UTSW 8 95565571 missense probably benign 0.03
R7261:Prss54 UTSW 8 95559739 missense probably benign 0.02
R7864:Prss54 UTSW 8 95559669 missense probably benign 0.22
R7947:Prss54 UTSW 8 95559669 missense probably benign 0.22
Z1177:Prss54 UTSW 8 95564451 missense probably damaging 1.00
Posted On2015-04-16