Incidental Mutation 'IGL02609:Impad1'
ID300417
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 #IGL02609
Quality Score
Status
Chromosome4
Chromosomal Location4762484-4793355 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 4767763 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 338 (R338*)
Ref Sequence ENSEMBL: ENSMUSP00000082013 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084949]
Predicted Effect probably null
Transcript: ENSMUST00000084949
AA Change: R338*
SMART Domains Protein: ENSMUSP00000082013
Gene: ENSMUSG00000066324
AA Change: R338*

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stk35 T C 2: 129,801,801 V235A probably damaging Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Impad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00843:Impad1 APN 4 4776308 splice site probably benign
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 On2015-04-16