Incidental Mutation 'IGL01414:Lhpp'
ID 80178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhpp
Ensembl Gene ENSMUSG00000030946
Gene Name phospholysine phosphohistidine inorganic pyrophosphate phosphatase
Synonyms 2310007H09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.320) question?
Stock # IGL01414
Quality Score
Status
Chromosome 7
Chromosomal Location 132212367-132308149 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132244249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 189 (K189E)
Ref Sequence ENSEMBL: ENSMUSP00000147970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096]
AlphaFold Q9D7I5
Predicted Effect probably damaging
Transcript: ENSMUST00000033241
AA Change: K189E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: K189E

DomainStartEndE-ValueType
Pfam:Hydrolase 11 227 1.1e-8 PFAM
Pfam:Hydrolase_6 14 116 4.4e-17 PFAM
Pfam:HAD_2 159 233 3.4e-9 PFAM
Pfam:Hydrolase_like 186 260 9.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106170
AA Change: K189E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130672
Predicted Effect probably benign
Transcript: ENSMUST00000133969
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210168
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,279,696 (GRCm39) probably null Het
Arhgap45 T A 10: 79,862,938 (GRCm39) S705T probably damaging Het
B4galt4 A G 16: 38,578,153 (GRCm39) E200G probably damaging Het
Cdh12 A T 15: 21,492,775 (GRCm39) N265Y probably damaging Het
Cerk T A 15: 86,043,343 (GRCm39) T153S probably benign Het
Ect2 A T 3: 27,181,878 (GRCm39) probably benign Het
Ep300 T A 15: 81,511,467 (GRCm39) probably benign Het
Gm26920 T G 7: 29,767,503 (GRCm39) probably benign Het
Ighv1-66 T C 12: 115,556,929 (GRCm39) Y51C probably benign Het
Ints1 T C 5: 139,744,253 (GRCm39) D1503G probably benign Het
Myh13 A G 11: 67,233,298 (GRCm39) T606A probably benign Het
Naip1 T C 13: 100,545,681 (GRCm39) probably null Het
Nckap5 G T 1: 126,456,450 (GRCm39) Q38K probably damaging Het
Nlgn3 A G X: 100,345,866 (GRCm39) I93V probably benign Het
Nxpe2 A G 9: 48,231,923 (GRCm39) F345L probably benign Het
Pcdhb22 A G 18: 37,652,549 (GRCm39) N339S probably damaging Het
Rbbp7 T A X: 161,557,577 (GRCm39) I322N probably damaging Het
Rigi C A 4: 40,222,176 (GRCm39) V368F probably damaging Het
Rprd2 A T 3: 95,672,837 (GRCm39) F855L probably damaging Het
Scin A T 12: 40,174,698 (GRCm39) H128Q probably damaging Het
Sema4g A G 19: 44,986,435 (GRCm39) Y337C probably damaging Het
Stx6 C T 1: 155,077,691 (GRCm39) R233C possibly damaging Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Trem3 G T 17: 48,556,843 (GRCm39) V105L probably benign Het
Vmn2r108 T A 17: 20,691,942 (GRCm39) M194L probably benign Het
Zfyve16 A T 13: 92,658,704 (GRCm39) D402E probably benign Het
Other mutations in Lhpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02695:Lhpp APN 7 132,252,063 (GRCm39) missense probably damaging 1.00
IGL03220:Lhpp APN 7 132,252,020 (GRCm39) missense probably benign 0.02
R0105:Lhpp UTSW 7 132,232,254 (GRCm39) missense probably damaging 0.99
R0200:Lhpp UTSW 7 132,212,406 (GRCm39) start gained probably benign
R0463:Lhpp UTSW 7 132,212,406 (GRCm39) start gained probably benign
R1103:Lhpp UTSW 7 132,212,484 (GRCm39) missense probably damaging 1.00
R1872:Lhpp UTSW 7 132,235,816 (GRCm39) missense probably benign 0.24
R4816:Lhpp UTSW 7 132,272,104 (GRCm39) nonsense probably null
R5140:Lhpp UTSW 7 132,307,361 (GRCm39) missense probably damaging 0.99
R5799:Lhpp UTSW 7 132,307,364 (GRCm39) missense probably damaging 1.00
R6816:Lhpp UTSW 7 132,235,762 (GRCm39) missense probably benign 0.01
R8503:Lhpp UTSW 7 132,307,406 (GRCm39) missense probably benign
R8738:Lhpp UTSW 7 132,243,261 (GRCm39) missense probably damaging 1.00
R8996:Lhpp UTSW 7 132,212,484 (GRCm39) missense probably damaging 1.00
R9108:Lhpp UTSW 7 132,252,018 (GRCm39) missense probably damaging 1.00
R9474:Lhpp UTSW 7 132,243,312 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05