Incidental Mutation 'IGL01636:Prss43'
ID93010
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: 0.082) question?
Stock #IGL01636
Quality Score
Status
Chromosome9
Chromosomal Location110826690-110831839 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110827437 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 64 (L64Q)
Ref Sequence ENSEMBL: ENSMUSP00000076752 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077549] [ENSMUST00000141089]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077549
AA Change: L64Q

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000076752
Gene: ENSMUSG00000058398
AA Change: L64Q

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,419,949 T633A possibly damaging Het
Adgrd1 G T 5: 129,142,452 probably benign Het
Bmp7 T C 2: 172,875,208 probably benign Het
Ccdc54 A G 16: 50,589,914 *330Q probably null Het
Chd5 A T 4: 152,384,653 K1812* probably null Het
Cnga3 T A 1: 37,260,793 I236N possibly damaging Het
Ddost T G 4: 138,309,396 D135E possibly damaging Het
Dicer1 T C 12: 104,722,241 D359G probably damaging Het
Dnah17 A C 11: 118,041,056 S3697A probably benign Het
Dnttip2 G A 3: 122,282,474 G685D possibly damaging Het
Dst T G 1: 34,215,569 S4552R probably damaging Het
Ebf2 G A 14: 67,239,478 E157K probably damaging Het
Ehbp1 C T 11: 22,089,584 V839M probably benign Het
Ehmt1 G T 2: 24,839,608 T639K probably damaging Het
Esyt2 T C 12: 116,365,930 probably null Het
Etv6 T C 6: 134,248,387 S194P probably benign Het
Fam184b T C 5: 45,584,295 H198R probably benign Het
Fam210b T C 2: 172,351,540 F91S probably damaging Het
Fam81a G A 9: 70,099,152 Q193* probably null Het
Fto A G 8: 91,409,341 D79G probably damaging Het
Haspin C T 11: 73,137,405 R286H possibly damaging Het
Hmcn1 C T 1: 150,580,233 C5312Y probably damaging Het
Ik T A 18: 36,751,201 D245E possibly damaging Het
Itga1 A G 13: 115,006,948 V349A possibly damaging Het
Kdm8 T C 7: 125,461,205 V400A probably damaging Het
Larp1b G T 3: 40,970,478 R177L probably benign Het
Lifr T G 15: 7,179,018 probably benign Het
Lrrn2 T C 1: 132,937,221 L8P possibly damaging Het
Marc2 T C 1: 184,832,641 K231E probably benign Het
Marcksl1 T A 4: 129,514,794 D55E probably benign Het
Med12 C A X: 101,275,189 S74R probably damaging Het
Olfr1089 G A 2: 86,733,601 Q4* probably null Het
Olfr593 C A 7: 103,212,177 R95S probably benign Het
Olfr781 A T 10: 129,332,883 M1L probably damaging Het
Olfr862 A G 9: 19,884,188 V39A probably benign Het
Orc3 A C 4: 34,595,096 L233R probably damaging Het
Pik3cd A G 4: 149,654,315 M715T possibly damaging Het
Pyroxd2 C A 19: 42,738,332 G209V probably benign Het
Rab3b A G 4: 108,940,719 D198G possibly damaging Het
Rrbp1 A T 2: 143,947,895 probably benign Het
Smg6 T C 11: 74,935,103 probably null Het
Ssrp1 T C 2: 85,041,099 probably benign Het
Strip2 C A 6: 29,931,193 T381K probably benign Het
Svep1 A T 4: 58,116,622 L876Q possibly damaging Het
Tle4 T C 19: 14,452,533 I625V probably damaging Het
Tnfrsf23 T C 7: 143,679,999 T81A probably damaging Het
Ttc41 A G 10: 86,776,678 K1272E probably benign Het
Usp3 A G 9: 66,562,552 probably null Het
Vmn1r121 C T 7: 21,098,357 V53M probably benign Het
Vmn1r65 A T 7: 6,008,721 S171R probably benign Het
Vmn2r4 A T 3: 64,406,236 D441E probably benign Het
Vps13d A T 4: 145,075,048 H2353Q probably damaging Het
Vwa8 T C 14: 79,198,354 S1835P possibly damaging Het
Other mutations in Prss43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Prss43 APN 9 110829470 missense probably benign 0.02
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
Posted On2013-12-09