Incidental Mutation 'IGL02056:Kplce'
ID 185224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kplce
Ensembl Gene ENSMUSG00000090314
Gene Name KPRP N-terminal and LCE C-terminal like protein
Synonyms 2310050C09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.107) question?
Stock # IGL02056
Quality Score
Status
Chromosome 3
Chromosomal Location 92775666-92777512 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92776200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 161 (Q161L)
Ref Sequence ENSEMBL: ENSMUSP00000126921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163439]
AlphaFold G5E8Z3
Predicted Effect probably benign
Transcript: ENSMUST00000163439
AA Change: Q161L

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000126921
Gene: ENSMUSG00000090314
AA Change: Q161L

DomainStartEndE-ValueType
low complexity region 17 28 N/A INTRINSIC
internal_repeat_1 47 96 3.58e-12 PROSPERO
internal_repeat_1 104 151 3.58e-12 PROSPERO
low complexity region 152 171 N/A INTRINSIC
low complexity region 220 258 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg101 T C 15: 101,188,218 (GRCm39) S108P probably damaging Het
BB014433 A T 8: 15,092,435 (GRCm39) C139* probably null Het
Cacna1s A G 1: 136,046,738 (GRCm39) N1808S probably benign Het
Ccdc148 A G 2: 58,894,081 (GRCm39) probably benign Het
Dnah7a T G 1: 53,543,501 (GRCm39) N2223T probably benign Het
Fgl2 T A 5: 21,580,543 (GRCm39) I295K probably damaging Het
Foxj3 T C 4: 119,442,954 (GRCm39) I126T probably damaging Het
Gm4540 T A 3: 105,942,056 (GRCm39) probably benign Het
Hps5 T G 7: 46,437,606 (GRCm39) K156N probably damaging Het
Hsp90aa1 T C 12: 110,660,449 (GRCm39) probably benign Het
Il12rb1 C T 8: 71,263,831 (GRCm39) R131* probably null Het
Itgb2l T C 16: 96,228,889 (GRCm39) E438G probably damaging Het
Nbeal2 A T 9: 110,456,392 (GRCm39) L2379Q probably benign Het
Neurl4 T C 11: 69,796,616 (GRCm39) V481A probably damaging Het
Nos1ap A G 1: 170,146,192 (GRCm39) F454S possibly damaging Het
Pik3r5 G T 11: 68,381,681 (GRCm39) G242C possibly damaging Het
Pkd1l3 A G 8: 110,358,010 (GRCm39) N834S probably benign Het
Prkar2b A G 12: 32,025,909 (GRCm39) probably benign Het
Pusl1 T C 4: 155,975,029 (GRCm39) T191A probably benign Het
Rasal2 A G 1: 157,126,831 (GRCm39) V51A probably damaging Het
Rsc1a1 T A 4: 141,412,796 (GRCm39) I39F probably benign Het
Slc2a3 G A 6: 122,712,437 (GRCm39) P269L probably damaging Het
Sntb1 C T 15: 55,511,435 (GRCm39) G383D possibly damaging Het
Washc5 T C 15: 59,222,185 (GRCm39) T547A possibly damaging Het
Zfr T C 15: 12,154,533 (GRCm39) V572A probably damaging Het
Zmym6 T A 4: 126,997,207 (GRCm39) N275K probably damaging Het
Other mutations in Kplce
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0421:Kplce UTSW 3 92,776,291 (GRCm39) missense probably damaging 0.99
R1388:Kplce UTSW 3 92,776,356 (GRCm39) missense probably damaging 1.00
R2187:Kplce UTSW 3 92,775,922 (GRCm39) missense probably damaging 1.00
R4213:Kplce UTSW 3 92,776,434 (GRCm39) missense probably benign 0.01
R4240:Kplce UTSW 3 92,775,898 (GRCm39) missense possibly damaging 0.89
R5394:Kplce UTSW 3 92,776,005 (GRCm39) missense probably damaging 1.00
R6124:Kplce UTSW 3 92,776,365 (GRCm39) missense probably damaging 1.00
R6804:Kplce UTSW 3 92,776,354 (GRCm39) missense possibly damaging 0.67
R7293:Kplce UTSW 3 92,776,126 (GRCm39) missense probably benign 0.32
R8049:Kplce UTSW 3 92,776,202 (GRCm39) nonsense probably null
R9228:Kplce UTSW 3 92,775,951 (GRCm39) missense probably benign
R9663:Kplce UTSW 3 92,776,283 (GRCm39) missense probably benign 0.00
Z1176:Kplce UTSW 3 92,776,581 (GRCm39) missense probably benign 0.04
Posted On 2014-05-07