Incidental Mutation 'R6117:Prss54'
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ID485163
Institutional Source Beutler Lab
Gene Symbol Prss54
Ensembl Gene ENSMUSG00000048400
Gene Nameprotease, serine 54
Synonyms4931432M23Rik
MMRRC Submission 044266-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #R6117 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location95559069-95576340 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 95565458 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148608 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052690] [ENSMUST00000180075] [ENSMUST00000180075] [ENSMUST00000213096] [ENSMUST00000213096]
Predicted Effect probably null
Transcript: ENSMUST00000052690
SMART Domains Protein: ENSMUSP00000058859
Gene: ENSMUSG00000048400

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 null
Transcript: ENSMUST00000180075
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400

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 probably null
Transcript: ENSMUST00000180075
SMART Domains Protein: ENSMUSP00000137577
Gene: ENSMUSG00000048400

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 null
Transcript: ENSMUST00000213096
Predicted Effect probably null
Transcript: ENSMUST00000213096
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,698,786 Y625C probably damaging Het
Ankmy1 A G 1: 92,861,274 probably benign Het
Apmap T C 2: 150,600,332 T41A probably benign Het
Cacna1a A G 8: 84,614,721 Y1804C probably damaging Het
Cacna1e A T 1: 154,561,791 I333N possibly damaging Het
Cdsn C A 17: 35,555,034 S153R unknown Het
Celsr1 A T 15: 85,932,411 M1777K probably benign Het
Cmtr1 A G 17: 29,682,165 M249V probably benign Het
Cmya5 A G 13: 93,095,166 L1138P probably damaging Het
Crim1 A C 17: 78,303,088 D324A probably damaging Het
Dmap1 T A 4: 117,675,535 probably null Het
Dnah17 T C 11: 118,119,571 Y307C probably benign Het
Dnah5 T A 15: 28,270,420 L956H probably damaging Het
Enpp3 C T 10: 24,787,852 S537N probably damaging Het
Eya3 T A 4: 132,711,862 L323Q probably damaging Het
Fads3 A T 19: 10,054,267 H226L probably damaging Het
Flrt3 T A 2: 140,660,445 D421V possibly damaging Het
Frmd4a T C 2: 4,602,249 V370A possibly damaging Het
Gapvd1 T C 2: 34,690,459 probably null Het
Gm2178 T C 14: 26,514,840 probably benign Het
Gm5592 A G 7: 41,288,464 N390S probably benign Het
Hoxa10 T A 6: 52,234,820 R39* probably null Het
Kcnj1 A G 9: 32,397,182 T281A probably damaging Het
Myo10 T C 15: 25,805,659 Y1709H probably benign Het
Nacad T C 11: 6,599,810 D1127G probably benign Het
Naip1 T A 13: 100,444,737 M1L probably damaging Het
Olfr1331 A T 4: 118,869,144 Y121F probably benign Het
Olfr811 G A 10: 129,801,820 A235V probably damaging Het
Olfr811 C A 10: 129,801,821 A235S probably damaging Het
Pcdhb12 G A 18: 37,435,642 probably benign Het
Pde1b T C 15: 103,521,482 V134A probably damaging Het
Plxnb2 A T 15: 89,158,000 D1600E probably benign Het
Ryr3 A T 2: 112,635,396 I4757N probably damaging Het
Slc1a6 T C 10: 78,788,988 Y76H possibly damaging Het
Slco3a1 C T 7: 74,318,506 D489N probably benign Het
Sox15 G T 11: 69,655,890 G173V possibly damaging Het
Stard3 T C 11: 98,372,262 S48P probably damaging Het
Stk32c G A 7: 139,122,923 Q67* probably null Het
Svil T A 18: 5,116,016 W2101R probably damaging Het
Taar7e T A 10: 24,038,529 Y306N probably damaging Het
Tarbp1 T A 8: 126,427,541 M1485L probably benign Het
Togaram1 A G 12: 64,967,487 D504G probably damaging Het
Trrap T C 5: 144,802,961 L1091S possibly damaging Het
Unc80 A G 1: 66,675,067 E2856G possibly damaging Het
Usp47 C T 7: 112,087,932 T699M probably damaging Het
Other mutations in Prss54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Prss54 APN 8 95565609 missense probably benign 0.17
IGL02598:Prss54 APN 8 95565709 missense probably damaging 0.99
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
R6167:Prss54 UTSW 8 95559545 missense possibly damaging 0.71
R6791:Prss54 UTSW 8 95564655 splice site 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
R8284:Prss54 UTSW 8 95559366 nonsense probably null
R8318:Prss54 UTSW 8 95564466 missense probably damaging 0.99
Z1177:Prss54 UTSW 8 95564451 missense probably damaging 1.00
Predicted Primers
Posted On2017-08-16