Incidental Mutation 'IGL02310:Prss53'
ID287776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss53
Ensembl Gene ENSMUSG00000044139
Gene Nameprotease, serine 53
SynonymsBC039632
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.489) question?
Stock #IGL02310
Quality Score
Status
Chromosome7
Chromosomal Location127885841-127890970 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 127886614 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 518 (D518A)
Ref Sequence ENSEMBL: ENSMUSP00000112972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050383] [ENSMUST00000121394] [ENSMUST00000205300]
Predicted Effect probably benign
Transcript: ENSMUST00000050383
SMART Domains Protein: ENSMUSP00000052641
Gene: ENSMUSG00000049739

DomainStartEndE-ValueType
ZnF_C2H2 8 31 1.36e-2 SMART
ZnF_C2H2 67 89 5.29e-5 SMART
ZnF_C2H2 231 253 3.21e-4 SMART
ZnF_C2H2 258 280 9.58e-3 SMART
ZnF_C2H2 286 308 2.24e-3 SMART
low complexity region 345 362 N/A INTRINSIC
ZnF_C2H2 366 388 5.42e-2 SMART
ZnF_C2H2 393 415 8.34e-3 SMART
ZnF_C2H2 457 479 5.9e-3 SMART
ZnF_C2H2 484 506 4.87e-4 SMART
ZnF_C2H2 566 588 2.32e-1 SMART
ZnF_C2H2 606 628 6.32e-3 SMART
ZnF_C2H2 633 655 1.53e-1 SMART
low complexity region 737 750 N/A INTRINSIC
low complexity region 786 797 N/A INTRINSIC
ZnF_C2H2 806 828 2.17e-1 SMART
ZnF_C2H2 833 855 3.69e-4 SMART
ZnF_C2H2 866 889 1.16e-1 SMART
low complexity region 890 911 N/A INTRINSIC
ZnF_C2H2 941 961 9.31e1 SMART
ZnF_C2H2 1035 1057 1.95e-3 SMART
ZnF_C2H2 1062 1084 3.39e-3 SMART
low complexity region 1149 1163 N/A INTRINSIC
ZnF_C2H2 1170 1192 1.58e-3 SMART
ZnF_C2H2 1197 1219 5.42e-2 SMART
ZnF_C2H2 1225 1247 3.69e-4 SMART
ZnF_C2H2 1266 1286 5.12e1 SMART
ZnF_C2H2 1293 1315 3.69e-4 SMART
ZnF_C2H2 1333 1355 3.11e-2 SMART
ZnF_C2H2 1550 1572 5.9e-3 SMART
ZnF_C2H2 1640 1662 1.08e-1 SMART
ZnF_C2H2 1667 1689 4.11e-2 SMART
ZnF_C2H2 1695 1717 4.11e-2 SMART
ZnF_C2H2 1724 1746 1.45e-2 SMART
low complexity region 1751 1764 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121394
AA Change: D518A

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112972
Gene: ENSMUSG00000044139
AA Change: D518A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 38 268 3.91e-45 SMART
Tryp_SPc 300 520 9.95e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126662
SMART Domains Protein: ENSMUSP00000123566
Gene: ENSMUSG00000030804

DomainStartEndE-ValueType
VKc 1 111 8.84e-23 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205300
Predicted Effect probably benign
Transcript: ENSMUST00000206340
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A G 9: 22,424,428 Y114C probably benign Het
Ano4 T A 10: 89,023,878 K382* probably null Het
Bcl9l A G 9: 44,509,305 Y1299C probably damaging Het
Best1 T A 19: 9,989,152 H357L probably benign Het
Cdc26 T C 4: 62,395,029 probably benign Het
Esyt2 C T 12: 116,365,921 L700F probably benign Het
Fkbp15 T C 4: 62,340,316 Y138C probably damaging Het
Gbp6 T C 5: 105,290,975 N16D probably benign Het
Gm44805 A G 7: 19,671,763 *98Q probably null Het
Hecw2 T C 1: 53,923,916 D812G probably null Het
Hic2 G A 16: 17,257,757 R150Q probably damaging Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Klhl36 T A 8: 119,869,617 probably null Het
Mug2 C T 6: 122,059,123 probably benign Het
Olfr1410 T C 1: 92,608,065 V76A possibly damaging Het
Pdcl2 A T 5: 76,317,881 I116N probably damaging Het
Pkn2 A G 3: 142,811,580 I482T probably damaging Het
Psme4 A G 11: 30,837,484 D1093G probably benign Het
Tmcc2 A T 1: 132,358,907 I602N probably damaging Het
Tmem55b T C 14: 50,929,210 T187A possibly damaging Het
Ttn C T 2: 76,788,691 V16115I possibly damaging Het
Zbtb21 G T 16: 97,951,790 T459K possibly damaging Het
Other mutations in Prss53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Prss53 APN 7 127886552 missense probably benign
IGL02244:Prss53 APN 7 127888792 missense possibly damaging 0.73
PIT4515001:Prss53 UTSW 7 127888791 missense probably benign 0.01
R1933:Prss53 UTSW 7 127886262 makesense probably null
R1934:Prss53 UTSW 7 127886748 splice site probably null
R1994:Prss53 UTSW 7 127887393 missense probably benign 0.03
R2304:Prss53 UTSW 7 127888307 missense probably benign
R2307:Prss53 UTSW 7 127890865 missense probably benign
R4934:Prss53 UTSW 7 127888707 missense probably benign
R6649:Prss53 UTSW 7 127886575 missense probably benign 0.37
R7854:Prss53 UTSW 7 127888945 missense probably benign 0.27
R7937:Prss53 UTSW 7 127888945 missense probably benign 0.27
Z1088:Prss53 UTSW 7 127887398 nonsense probably null
Z1177:Prss53 UTSW 7 127889074 missense probably damaging 1.00
Z1177:Prss53 UTSW 7 127889549 missense probably damaging 1.00
Posted On2015-04-16