Incidental Mutation 'IGL01463:Tiparp'
ID278500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tiparp
Ensembl Gene ENSMUSG00000034640
Gene NameTCDD-inducible poly(ADP-ribose) polymerase
SynonymsPARP7, PARP-7, DDF1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.844) question?
Stock #IGL01463
Quality Score
Status
Chromosome3
Chromosomal Location65528410-65555518 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 65552609 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 442 (G442*)
Ref Sequence ENSEMBL: ENSMUSP00000048051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047906]
Predicted Effect probably null
Transcript: ENSMUST00000047906
AA Change: G442*
SMART Domains Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: G442*

DomainStartEndE-ValueType
Blast:ZnF_C3H1 238 264 2e-8 BLAST
Pfam:PARP 463 650 2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154094
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 poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal lethality, skeletal and craniofacial defects, kidney defects and embryonic hemorrhaging. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,092,790 D773G probably damaging Het
Clvs1 A G 4: 9,429,818 T274A probably benign Het
Cyp2c50 G T 19: 40,090,978 C172F probably damaging Het
Fam83h G T 15: 76,003,788 R567S possibly damaging Het
Fastkd1 A G 2: 69,690,061 probably null Het
Gmds A T 13: 32,234,358 Y48N probably damaging Het
Mov10 C T 3: 104,800,324 R578H probably damaging Het
Pcna A T 2: 132,251,429 Y133N probably damaging Het
Rhag T C 17: 40,828,755 I126T probably damaging Het
Sdr16c6 C T 4: 4,063,238 G179D probably damaging Het
Sv2b C T 7: 75,136,455 G406S probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vmn2r93 T A 17: 18,304,888 N269K probably damaging Het
Other mutations in Tiparp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Tiparp APN 3 65532109 missense probably damaging 1.00
IGL01448:Tiparp APN 3 65552609 nonsense probably null
IGL01452:Tiparp APN 3 65552609 nonsense probably null
IGL01454:Tiparp APN 3 65552609 nonsense probably null
IGL01456:Tiparp APN 3 65552609 nonsense probably null
IGL01467:Tiparp APN 3 65552609 nonsense probably null
IGL01468:Tiparp APN 3 65552609 nonsense probably null
IGL01470:Tiparp APN 3 65552609 nonsense probably null
IGL01476:Tiparp APN 3 65552609 nonsense probably null
IGL01481:Tiparp APN 3 65552609 nonsense probably null
IGL01590:Tiparp APN 3 65531976 missense probably benign 0.14
IGL01684:Tiparp APN 3 65553333 missense probably damaging 0.99
IGL02322:Tiparp APN 3 65532020 nonsense probably null
IGL02572:Tiparp APN 3 65531889 missense probably benign 0.01
R0401:Tiparp UTSW 3 65531436 missense probably benign 0.06
R0674:Tiparp UTSW 3 65553165 missense probably benign 0.03
R1316:Tiparp UTSW 3 65553351 missense probably damaging 1.00
R1766:Tiparp UTSW 3 65532049 missense probably damaging 1.00
R2140:Tiparp UTSW 3 65529252 intron probably benign
R2568:Tiparp UTSW 3 65553130 nonsense probably null
R4533:Tiparp UTSW 3 65546347 missense probably benign 0.05
R4751:Tiparp UTSW 3 65552804 missense probably damaging 1.00
R4812:Tiparp UTSW 3 65552769 missense possibly damaging 0.94
R5268:Tiparp UTSW 3 65547565 missense possibly damaging 0.72
R5622:Tiparp UTSW 3 65547525 missense probably benign 0.00
R5693:Tiparp UTSW 3 65553492 missense possibly damaging 0.89
R5765:Tiparp UTSW 3 65531350 missense possibly damaging 0.69
R6061:Tiparp UTSW 3 65553243 missense probably damaging 0.98
R6875:Tiparp UTSW 3 65531642 missense probably benign 0.01
R7123:Tiparp UTSW 3 65553527 missense probably damaging 1.00
R8023:Tiparp UTSW 3 65531803 missense probably benign 0.01
Posted On2015-04-16