Incidental Mutation 'IGL00336:Prss30'
ID 332314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss30
Ensembl Gene ENSMUSG00000024124
Gene Name protease, serine 30
Synonyms Disp1, Disp, Tmprss8, 2010015P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL00336
Quality Score
Status
Chromosome 17
Chromosomal Location 23972126-23975230 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23973721 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 162 (S162T)
Ref Sequence ENSEMBL: ENSMUSP00000117647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024936] [ENSMUST00000135549] [ENSMUST00000147626] [ENSMUST00000151448]
AlphaFold Q9QYZ9
Predicted Effect probably benign
Transcript: ENSMUST00000024936
AA Change: S125T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000024936
Gene: ENSMUSG00000024124
AA Change: S125T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Tryp_SPc 36 272 2.07e-90 SMART
low complexity region 281 294 N/A INTRINSIC
low complexity region 297 307 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123584
Predicted Effect probably benign
Transcript: ENSMUST00000135549
AA Change: S162T

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000114293
Gene: ENSMUSG00000024124
AA Change: S162T

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
Tryp_SPc 73 272 5.43e-53 SMART
Predicted Effect unknown
Transcript: ENSMUST00000147626
AA Change: S44T
SMART Domains Protein: ENSMUSP00000118063
Gene: ENSMUSG00000024124
AA Change: S44T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SCOP:g1h8d.1 27 60 2e-6 SMART
Blast:Tryp_SPc 27 61 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000151448
AA Change: S162T

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117647
Gene: ENSMUSG00000024124
AA Change: S162T

DomainStartEndE-ValueType
low complexity region 14 23 N/A INTRINSIC
Tryp_SPc 73 212 9.69e-9 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A T 13: 63,015,423 D86V possibly damaging Het
A430033K04Rik A G 5: 138,647,104 Y417C probably damaging Het
Adam28 T A 14: 68,622,120 H548L possibly damaging Het
AF529169 T C 9: 89,603,143 D67G probably damaging Het
Agbl3 A T 6: 34,846,836 D812V probably damaging Het
Aox1 T A 1: 58,059,044 L305Q probably damaging Het
Arhgef38 A G 3: 133,132,051 V706A probably benign Het
Arl15 A G 13: 114,154,752 I171V probably benign Het
Cacna1s C A 1: 136,084,273 Y237* probably null Het
Ccnt1 T C 15: 98,565,109 T61A possibly damaging Het
Col25a1 T A 3: 130,181,784 probably benign Het
Col4a1 T A 8: 11,240,077 probably benign Het
Dcun1d1 T C 3: 35,916,306 E130G possibly damaging Het
Dnah7b G A 1: 46,142,149 M1065I probably benign Het
Ephb2 T G 4: 136,657,484 K872T probably damaging Het
Fga G A 3: 83,031,674 G452D probably damaging Het
Flrt1 T A 19: 7,096,912 N90I probably damaging Het
Fut10 T A 8: 31,195,291 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr137b T C 13: 13,374,415 probably benign Het
Gprc5d G A 6: 135,116,490 Q140* probably null Het
Ifi27l2b T C 12: 103,451,217 K237R unknown Het
Ipo8 A T 6: 148,782,786 M836K possibly damaging Het
Kcnq4 G A 4: 120,698,016 Q657* probably null Het
Lama1 A T 17: 67,813,948 H2693L probably benign Het
Lrrc23 A G 6: 124,778,926 W40R probably damaging Het
Morn2 C A 17: 80,295,504 probably benign Het
Ms4a6b T A 19: 11,529,490 N214K possibly damaging Het
Nags A T 11: 102,149,066 S527C probably damaging Het
Ndst1 C T 18: 60,707,956 G218D probably damaging Het
Olfr1097 C T 2: 86,890,245 C310Y probably benign Het
Olfr1442 T A 19: 12,674,560 Y118* probably null Het
Olfr16 G A 1: 172,957,478 V228M probably benign Het
Oxa1l G T 14: 54,363,345 G92* probably null Het
Parp16 A T 9: 65,229,963 E157V probably damaging Het
Pcdh17 A T 14: 84,447,544 I484F probably damaging Het
Pex16 A G 2: 92,379,235 R263G probably benign Het
Pkd1l3 G A 8: 109,630,237 E765K possibly damaging Het
Plce1 T C 19: 38,651,906 V532A probably damaging Het
Polq A G 16: 37,065,247 probably benign Het
Pramel5 T C 4: 144,271,621 T351A probably damaging Het
Prokr1 A T 6: 87,588,611 I84N probably damaging Het
Ranbp2 A G 10: 58,451,984 K25E probably damaging Het
Rapsn A G 2: 91,035,860 T22A probably damaging Het
Rhoj G T 12: 75,308,906 G9V probably damaging Het
Rnf213 A G 11: 119,449,343 R3467G probably benign Het
Rreb1 C A 13: 37,929,646 S327* probably null Het
Scn5a G A 9: 119,486,224 P1806L probably damaging Het
Sema6a C A 18: 47,289,975 probably null Het
Stag3 G A 5: 138,297,659 E416K probably benign Het
Stpg1 T A 4: 135,529,545 S216T possibly damaging Het
Tfeb C A 17: 47,791,664 N426K probably benign Het
Trp53bp1 G T 2: 121,256,579 Q199K possibly damaging Het
Ubr4 A G 4: 139,428,566 D2234G probably damaging Het
Ush1c T G 7: 46,196,770 Q866P probably benign Het
Vdr T A 15: 97,884,854 D29V probably damaging Het
Vps13c T C 9: 67,945,942 V2439A probably benign Het
Xirp2 T C 2: 67,512,598 S1728P possibly damaging Het
Zfp9 A G 6: 118,464,475 S409P probably damaging Het
Other mutations in Prss30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01687:Prss30 APN 17 23975132 missense probably benign 0.00
R1444:Prss30 UTSW 17 23973738 missense probably damaging 1.00
R1662:Prss30 UTSW 17 23972832 missense possibly damaging 0.68
R2061:Prss30 UTSW 17 23974668 start gained probably benign
R4485:Prss30 UTSW 17 23973156 missense probably damaging 1.00
R4849:Prss30 UTSW 17 23972795 missense probably benign 0.00
R5305:Prss30 UTSW 17 23972776 missense probably benign 0.00
R5853:Prss30 UTSW 17 23972846 missense probably damaging 1.00
R8934:Prss30 UTSW 17 23973654 missense probably damaging 1.00
X0057:Prss30 UTSW 17 23974013 missense probably benign 0.00
Z1176:Prss30 UTSW 17 23974584 missense unknown
Z1176:Prss30 UTSW 17 23974586 missense unknown
Posted On 2015-08-05