Incidental Mutation 'IGL00236:Prss43'
ID 2264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss43
Ensembl Gene ENSMUSG00000058398
Gene Name serine protease 43
Synonyms LOC272643, Tessp3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00236
Quality Score
Status
Chromosome 9
Chromosomal Location 110655758-110660575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110658538 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 279 (Q279H)
Ref Sequence ENSEMBL: ENSMUSP00000076752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077549] [ENSMUST00000141089]
AlphaFold Q76HL1
Predicted Effect probably benign
Transcript: ENSMUST00000077549
AA Change: Q279H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: Q279H

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
Tryp_SPc 115 350 5.86e-58 SMART
transmembrane domain 362 381 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141089
SMART Domains Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Trypsin 112 144 1.3e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh1 A G 12: 87,490,467 (GRCm39) V43A probably damaging Het
Ankrd17 A T 5: 90,381,787 (GRCm39) S2460T probably damaging Het
Ap4e1 T C 2: 126,870,201 (GRCm39) L176P probably damaging Het
Caprin2 A G 6: 148,744,569 (GRCm39) I952T probably damaging Het
Cdkl4 A T 17: 80,832,705 (GRCm39) probably benign Het
Cfap44 T C 16: 44,227,767 (GRCm39) L156P probably damaging Het
Dock9 A G 14: 121,905,880 (GRCm39) L90S probably benign Het
Efhb T C 17: 53,769,481 (GRCm39) D276G probably damaging Het
Ep300 A G 15: 81,525,619 (GRCm39) D1481G unknown Het
Fam83b T C 9: 76,398,260 (GRCm39) I948V probably benign Het
Fbxl5 G T 5: 43,922,678 (GRCm39) H247N probably damaging Het
Fn1 A G 1: 71,692,032 (GRCm39) I37T probably benign Het
Hfe C T 13: 23,889,835 (GRCm39) probably benign Het
Ighv1-36 A T 12: 114,843,770 (GRCm39) L29Q possibly damaging Het
Inpp5e G T 2: 26,298,533 (GRCm39) Q23K probably benign Het
L3mbtl1 T C 2: 162,808,983 (GRCm39) S619P probably damaging Het
Myh8 T C 11: 67,174,644 (GRCm39) I253T probably damaging Het
Ntrk1 C T 3: 87,698,745 (GRCm39) V99M possibly damaging Het
Or51s1 T C 7: 102,558,479 (GRCm39) H189R probably damaging Het
Or5b124 A T 19: 13,610,903 (GRCm39) I143F probably benign Het
Pard6a T C 8: 106,429,446 (GRCm39) S135P probably damaging Het
Ptcd2 T C 13: 99,466,573 (GRCm39) N207D probably benign Het
Ros1 T C 10: 52,070,986 (GRCm39) I23V probably benign Het
Scg5 A G 2: 113,657,915 (GRCm39) probably benign Het
Sh3bp5 T A 14: 31,101,347 (GRCm39) K212* probably null Het
Slc25a30 C T 14: 76,004,365 (GRCm39) G244D possibly damaging Het
Slc38a10 T C 11: 119,997,428 (GRCm39) R689G probably damaging Het
Spatc1 A G 15: 76,168,994 (GRCm39) D321G probably damaging Het
Stat4 A T 1: 52,142,037 (GRCm39) Y628F probably damaging Het
Wdr35 G A 12: 9,069,900 (GRCm39) V813I probably benign Het
Other mutations in Prss43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Prss43 APN 9 110,656,505 (GRCm39) missense possibly damaging 0.75
IGL03046:Prss43 UTSW 9 110,660,049 (GRCm39) missense probably benign 0.01
PIT4576001:Prss43 UTSW 9 110,656,955 (GRCm39) missense probably damaging 1.00
R0020:Prss43 UTSW 9 110,657,580 (GRCm39) unclassified probably benign
R0278:Prss43 UTSW 9 110,656,430 (GRCm39) missense probably benign 0.07
R0883:Prss43 UTSW 9 110,658,576 (GRCm39) missense probably damaging 1.00
R1384:Prss43 UTSW 9 110,656,510 (GRCm39) missense probably benign 0.10
R2212:Prss43 UTSW 9 110,658,532 (GRCm39) missense probably damaging 1.00
R3412:Prss43 UTSW 9 110,658,532 (GRCm39) missense probably damaging 1.00
R3808:Prss43 UTSW 9 110,656,840 (GRCm39) missense probably damaging 1.00
R4202:Prss43 UTSW 9 110,656,529 (GRCm39) missense probably benign 0.08
R4530:Prss43 UTSW 9 110,658,572 (GRCm39) missense probably benign 0.38
R4752:Prss43 UTSW 9 110,656,836 (GRCm39) missense possibly damaging 0.47
R5009:Prss43 UTSW 9 110,656,489 (GRCm39) missense possibly damaging 0.50
R6920:Prss43 UTSW 9 110,657,680 (GRCm39) missense probably benign 0.04
R7271:Prss43 UTSW 9 110,657,671 (GRCm39) missense probably damaging 1.00
R7406:Prss43 UTSW 9 110,657,764 (GRCm39) missense probably damaging 1.00
R7758:Prss43 UTSW 9 110,658,459 (GRCm39) missense possibly damaging 0.91
R8257:Prss43 UTSW 9 110,659,880 (GRCm39) missense possibly damaging 0.95
R8686:Prss43 UTSW 9 110,658,494 (GRCm39) missense possibly damaging 0.92
R8885:Prss43 UTSW 9 110,660,046 (GRCm39) missense probably damaging 1.00
R9217:Prss43 UTSW 9 110,656,564 (GRCm39) missense possibly damaging 0.75
Posted On 2011-12-09