Incidental Mutation 'IGL00236:Prss43'
ID2264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prss43
Ensembl Gene ENSMUSG00000058398
Gene Nameprotease, serine 43
SynonymsLOC272643, Tessp3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00236
Quality Score
Status
Chromosome9
Chromosomal Location110826690-110831839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 110829470 bp
ZygosityHeterozygous
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]
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: 87,443,697 V43A probably damaging Het
Ankrd17 A T 5: 90,233,928 S2460T probably damaging Het
Ap4e1 T C 2: 127,028,281 L176P probably damaging Het
Caprin2 A G 6: 148,843,071 I952T probably damaging Het
Cdkl4 A T 17: 80,525,276 probably benign Het
Cfap44 T C 16: 44,407,404 L156P probably damaging Het
Dock9 A G 14: 121,668,468 L90S probably benign Het
Efhb T C 17: 53,462,453 D276G probably damaging Het
Ep300 A G 15: 81,641,418 D1481G unknown Het
Fam83b T C 9: 76,490,978 I948V probably benign Het
Fbxl5 G T 5: 43,765,336 H247N probably damaging Het
Fn1 A G 1: 71,652,873 I37T probably benign Het
Hfe C T 13: 23,705,852 probably benign Het
Ighv1-36 A T 12: 114,880,150 L29Q possibly damaging Het
Inpp5e G T 2: 26,408,521 Q23K probably benign Het
L3mbtl1 T C 2: 162,967,063 S619P probably damaging Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Ntrk1 C T 3: 87,791,438 V99M possibly damaging Het
Olfr1489 A T 19: 13,633,539 I143F probably benign Het
Olfr571 T C 7: 102,909,272 H189R probably damaging Het
Pard6a T C 8: 105,702,814 S135P probably damaging Het
Ptcd2 T C 13: 99,330,065 N207D probably benign Het
Ros1 T C 10: 52,194,890 I23V probably benign Het
Scg5 A G 2: 113,827,570 probably benign Het
Sh3bp5 T A 14: 31,379,390 K212* probably null Het
Slc25a30 C T 14: 75,766,925 G244D possibly damaging Het
Slc38a10 T C 11: 120,106,602 R689G probably damaging Het
Spatc1 A G 15: 76,284,794 D321G probably damaging Het
Stat4 A T 1: 52,102,878 Y628F probably damaging Het
Wdr35 G A 12: 9,019,900 V813I probably benign Het
Other mutations in Prss43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Prss43 APN 9 110827437 missense possibly damaging 0.75
IGL03046:Prss43 UTSW 9 110830981 missense probably benign 0.01
PIT4576001:Prss43 UTSW 9 110827887 missense probably damaging 1.00
R0020:Prss43 UTSW 9 110828512 unclassified probably benign
R0278:Prss43 UTSW 9 110827362 missense probably benign 0.07
R0883:Prss43 UTSW 9 110829508 missense probably damaging 1.00
R1384:Prss43 UTSW 9 110827442 missense probably benign 0.10
R2212:Prss43 UTSW 9 110829464 missense probably damaging 1.00
R3412:Prss43 UTSW 9 110829464 missense probably damaging 1.00
R3808:Prss43 UTSW 9 110827772 missense probably damaging 1.00
R4202:Prss43 UTSW 9 110827461 missense probably benign 0.08
R4530:Prss43 UTSW 9 110829504 missense probably benign 0.38
R4752:Prss43 UTSW 9 110827768 missense possibly damaging 0.47
R5009:Prss43 UTSW 9 110827421 missense possibly damaging 0.50
R6920:Prss43 UTSW 9 110828612 missense probably benign 0.04
R7271:Prss43 UTSW 9 110828603 missense probably damaging 1.00
R7406:Prss43 UTSW 9 110828696 missense probably damaging 1.00
R7758:Prss43 UTSW 9 110829391 missense possibly damaging 0.91
R8257:Prss43 UTSW 9 110830812 missense possibly damaging 0.95
R8686:Prss43 UTSW 9 110829426 missense possibly damaging 0.92
R8885:Prss43 UTSW 9 110830978 missense probably damaging 1.00
Posted On2011-12-09