Incidental Mutation 'IGL00843:Impad1'
ID11458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Impad1
Ensembl Gene ENSMUSG00000066324
Gene Nameinositol monophosphatase domain containing 1
Synonyms1110001C20Rik, Jaws, gPAPP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00843
Quality Score
Status
Chromosome4
Chromosomal Location4762484-4793355 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 4776308 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
Predicted Effect probably benign
Transcript: ENSMUST00000084949
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Inositol_P 60 353 1.5e-42 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol monophosphatase family. The encoded protein is localized to the Golgi apparatus and catalyzes the hydrolysis of phosphoadenosine phosphate (PAP) to adenosine monophosphate (AMP). Mutations in this gene are a cause of GRAPP type chondrodysplasia with joint dislocations, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mutants are neonatal lethal with growth retardation. Mutant embryo shows craniofacial abnormalities and shortened limbs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bglap A G 3: 88,384,350 probably null Het
Clcn2 T C 16: 20,703,641 T772A probably benign Het
Cldn18 A T 9: 99,698,821 F125I probably benign Het
Ehhadh A G 16: 21,762,629 S538P possibly damaging Het
Ets2 T G 16: 95,709,793 F32V probably benign Het
F5 G A 1: 164,211,791 R1990Q probably benign Het
Fetub A G 16: 22,929,629 probably benign Het
Hecw1 C T 13: 14,247,573 E983K probably benign Het
Hemgn A G 4: 46,396,240 M332T probably benign Het
Hmcn1 A G 1: 150,610,713 I4314T possibly damaging Het
Lonrf2 C A 1: 38,812,535 probably benign Het
Lrrc9 T C 12: 72,463,417 I430T possibly damaging Het
Lrrk2 T C 15: 91,757,058 V1606A possibly damaging Het
Oog2 G T 4: 144,195,172 L217F probably damaging Het
Plxnc1 T C 10: 94,847,549 H791R probably benign Het
Prdm2 G A 4: 143,134,314 S802L probably damaging Het
Prss32 T A 17: 23,857,362 L233Q probably damaging Het
Rapgef6 T A 11: 54,691,273 V1337E probably benign Het
Slc15a3 T A 19: 10,853,263 M326K probably null Het
Slc25a54 A T 3: 109,112,860 T397S possibly damaging Het
Slfn3 C T 11: 83,213,431 T376M probably damaging Het
Stradb T A 1: 58,994,409 D410E probably benign Het
Tdh T C 14: 63,495,764 T178A probably damaging Het
Tspan12 T A 6: 21,851,082 probably benign Het
Ube2b A T 11: 51,995,375 D50E probably benign Het
Zranb1 A C 7: 132,949,893 H117P probably benign Het
Other mutations in Impad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02609:Impad1 APN 4 4767763 nonsense probably null
R1651:Impad1 UTSW 4 4792737 missense probably damaging 1.00
R2571:Impad1 UTSW 4 4778192 critical splice donor site probably null
R4288:Impad1 UTSW 4 4778231 missense probably damaging 1.00
R4603:Impad1 UTSW 4 4767878 missense probably damaging 1.00
R5333:Impad1 UTSW 4 4767963 missense possibly damaging 0.92
R5365:Impad1 UTSW 4 4776385 missense probably damaging 1.00
R7275:Impad1 UTSW 4 4792962 missense probably damaging 0.98
R7599:Impad1 UTSW 4 4778207 missense probably damaging 1.00
R7756:Impad1 UTSW 4 4769385 missense probably damaging 1.00
Posted On2012-12-06