Incidental Mutation 'IGL02695:Lhpp'
ID303903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lhpp
Ensembl Gene ENSMUSG00000030946
Gene Namephospholysine phosphohistidine inorganic pyrophosphate phosphatase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL02695
Quality Score
Status
Chromosome7
Chromosomal Location132610638-132706420 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 132650334 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 234 (R234Q)
Ref Sequence ENSEMBL: ENSMUSP00000147970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033241] [ENSMUST00000106170] [ENSMUST00000124096]
Predicted Effect probably damaging
Transcript: ENSMUST00000033241
AA Change: R234Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033241
Gene: ENSMUSG00000030946
AA Change: R234Q

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: R234Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,050,480 M389K probably benign Het
Adamts4 C A 1: 171,252,634 T252K probably damaging Het
Adgrb2 G A 4: 130,018,832 G1293D probably damaging Het
Ankfn1 T C 11: 89,391,819 E1013G probably damaging Het
Ankrd34b C A 13: 92,439,612 H451N possibly damaging Het
Cd300c2 C T 11: 115,001,553 probably benign Het
Cntnap3 T G 13: 64,772,132 Q637P probably benign Het
Cpne6 A T 14: 55,514,580 I265F probably damaging Het
Dot1l C A 10: 80,777,608 T18K probably damaging Het
Fam83c T C 2: 155,831,515 D251G probably benign Het
Fyb A G 15: 6,580,921 K325R probably damaging Het
Gas2l2 T A 11: 83,422,642 I615F probably damaging Het
Gigyf2 A G 1: 87,416,827 N494S probably benign Het
Gm6614 A G 6: 141,987,760 V433A probably damaging Het
Gnaz T C 10: 74,992,142 probably null Het
Haus5 A T 7: 30,663,277 L36Q probably damaging Het
Hecw2 C T 1: 53,926,209 G486D possibly damaging Het
Hmcn2 T C 2: 31,408,973 F2777S possibly damaging Het
Il1rl1 T C 1: 40,446,558 S290P possibly damaging Het
Itgam G T 7: 128,085,941 A409S possibly damaging Het
Kdm5b T A 1: 134,604,485 M467K possibly damaging Het
Lama2 A C 10: 27,000,775 V2725G probably benign Het
Maf1 T C 15: 76,352,755 S65P possibly damaging Het
Mgat5 T A 1: 127,412,131 H416Q probably damaging Het
Mta2 A G 19: 8,948,364 T408A probably benign Het
Neb T A 2: 52,255,591 I2974F probably damaging Het
Neb C T 2: 52,211,596 probably benign Het
Olfr153 C T 2: 87,532,117 T28I probably benign Het
Olfr348 C T 2: 36,787,320 S265L possibly damaging Het
Olfr656 A G 7: 104,618,471 H264R probably damaging Het
Olfr710 A G 7: 106,944,663 S113P possibly damaging Het
Pcca T A 14: 122,582,738 probably benign Het
Prlr T C 15: 10,328,365 F309L probably benign Het
Slc28a1 A T 7: 81,167,991 Y536F probably benign Het
Stab1 T A 14: 31,159,271 N601Y probably damaging Het
Stil G T 4: 115,016,175 V332F probably damaging Het
Stk11 A G 10: 80,125,477 probably null Het
Tmem59 A G 4: 107,193,314 N147S probably benign Het
Other mutations in Lhpp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Lhpp APN 7 132642520 missense probably damaging 1.00
IGL03220:Lhpp APN 7 132650291 missense probably benign 0.02
R0105:Lhpp UTSW 7 132630525 missense probably damaging 0.99
R0200:Lhpp UTSW 7 132610677 start gained probably benign
R0463:Lhpp UTSW 7 132610677 start gained probably benign
R1103:Lhpp UTSW 7 132610755 missense probably damaging 1.00
R1872:Lhpp UTSW 7 132634087 missense probably benign 0.24
R4816:Lhpp UTSW 7 132670375 nonsense probably null
R5140:Lhpp UTSW 7 132705632 missense probably damaging 0.99
R5799:Lhpp UTSW 7 132705635 missense probably damaging 1.00
R6816:Lhpp UTSW 7 132634033 missense probably benign 0.01
Posted On2015-04-16