Incidental Mutation 'IGL01108:Prss51'
ID52684
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss51
Ensembl Gene ENSMUSG00000052099
Gene Nameprotease, serine 51
Synonyms1700007N14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #IGL01108
Quality Score
Status
Chromosome14
Chromosomal Location64086234-64097678 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64095984 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 14 (K14I)
Ref Sequence ENSEMBL: ENSMUSP00000126778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063785] [ENSMUST00000165710] [ENSMUST00000170709] [ENSMUST00000224112]
Predicted Effect probably damaging
Transcript: ENSMUST00000063785
AA Change: K14I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066111
Gene: ENSMUSG00000052099
AA Change: K14I

DomainStartEndE-ValueType
Tryp_SPc 5 171 3.93e-9 SMART
low complexity region 181 195 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165710
AA Change: K32I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132814
Gene: ENSMUSG00000052099
AA Change: K32I

DomainStartEndE-ValueType
Tryp_SPc 9 189 2.09e-13 SMART
low complexity region 199 213 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166038
Predicted Effect probably damaging
Transcript: ENSMUST00000170709
AA Change: K14I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126778
Gene: ENSMUSG00000052099
AA Change: K14I

DomainStartEndE-ValueType
Pfam:Trypsin 2 94 2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224112
AA Change: K111I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah2 A G 19: 32,008,681 probably benign Het
Baz1a A G 12: 54,916,731 I856T probably benign Het
Cblb T A 16: 52,047,451 probably null Het
Cpq A G 15: 33,497,287 Q391R probably benign Het
Dnah9 T A 11: 65,849,980 T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 S63P possibly damaging Het
Elmsan1 T C 12: 84,173,691 E163G probably damaging Het
Ercc3 T C 18: 32,264,585 V623A probably damaging Het
Fbxw9 A G 8: 85,065,977 probably benign Het
Gorasp2 T A 2: 70,678,578 S133R probably damaging Het
Gtf2h1 G A 7: 46,812,498 A307T probably damaging Het
Hk1 T C 10: 62,296,708 K186R probably benign Het
Itga11 A G 9: 62,757,621 E596G probably benign Het
Kcnj13 T C 1: 87,386,937 I188V probably benign Het
Klhl18 A T 9: 110,428,686 M492K probably damaging Het
Mctp2 T C 7: 72,185,815 T545A probably damaging Het
Mgrn1 G T 16: 4,916,155 probably null Het
Olfm4 T C 14: 80,021,899 V529A probably benign Het
Olfr275 C T 4: 52,825,727 T110I probably damaging Het
Parp4 T G 14: 56,607,440 I596S probably benign Het
Plppr3 T A 10: 79,867,521 D43V probably damaging Het
Prss58 A G 6: 40,897,344 C133R probably damaging Het
Recql5 A T 11: 115,897,181 N437K probably benign Het
Samd10 A G 2: 181,597,214 Y135H probably damaging Het
Scnn1b G T 7: 121,914,332 probably null Het
Serpina7 C T X: 139,083,137 V58I probably benign Het
Slf1 A T 13: 77,125,475 probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Urb1 C T 16: 90,792,814 A360T probably damaging Het
Ush2a G T 1: 188,862,825 R3818L probably benign Het
Vmn2r57 C T 7: 41,427,584 R386K probably benign Het
Wnt3a T C 11: 59,256,309 N184D probably benign Het
Xpc G A 6: 91,493,005 R746W probably damaging Het
Other mutations in Prss51
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4354001:Prss51 UTSW 14 64097097 missense probably damaging 0.99
R0453:Prss51 UTSW 14 64097139 missense probably damaging 1.00
R1335:Prss51 UTSW 14 64096171 critical splice donor site probably null
R1479:Prss51 UTSW 14 64096170 critical splice donor site probably null
R3753:Prss51 UTSW 14 64096175 splice site probably benign
R5384:Prss51 UTSW 14 64097094 missense probably damaging 0.99
R5385:Prss51 UTSW 14 64097094 missense probably damaging 0.99
R5386:Prss51 UTSW 14 64097094 missense probably damaging 0.99
R6522:Prss51 UTSW 14 64097406 missense possibly damaging 0.90
R6722:Prss51 UTSW 14 64095059 missense probably damaging 0.99
R6908:Prss51 UTSW 14 64096152 missense probably benign 0.00
R6919:Prss51 UTSW 14 64097488 missense probably damaging 1.00
R7220:Prss51 UTSW 14 64095995 nonsense probably null
R7510:Prss51 UTSW 14 64096040 missense probably damaging 1.00
R7711:Prss51 UTSW 14 64097488 missense probably damaging 1.00
R7753:Prss51 UTSW 14 64095927 missense possibly damaging 0.86
X0024:Prss51 UTSW 14 64097466 missense probably damaging 1.00
Z1177:Prss51 UTSW 14 64094941 missense possibly damaging 0.92
Posted On2013-06-21