Incidental Mutation 'IGL01456:Tiparp'
ID84777
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: 0.803) question?
Stock #IGL01456
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,491,463 D633E probably benign Het
Akap13 T C 7: 75,602,847 C242R probably damaging Het
Ap5z1 T C 5: 142,468,036 L175P probably damaging Het
Arid1b A G 17: 5,291,235 E938G probably damaging Het
Arid4a A G 12: 71,067,262 N208D probably benign Het
Atr A G 9: 95,950,565 H2556R possibly damaging Het
Cald1 A T 6: 34,764,996 D438V probably damaging Het
Dcbld2 C T 16: 58,408,873 P40S possibly damaging Het
Dock8 G A 19: 25,119,499 M590I possibly damaging Het
Gm1818 A T 12: 48,555,800 noncoding transcript Het
Hace1 A G 10: 45,709,998 probably benign Het
Igkv10-96 A G 6: 68,632,102 Y70H probably benign Het
Kdm2a G T 19: 4,351,755 H200Q probably damaging Het
Ldha A G 7: 46,850,178 D111G possibly damaging Het
Map7 A G 10: 20,273,804 E567G unknown Het
Nbeal1 G T 1: 60,230,628 L375F probably damaging Het
Nectin3 T C 16: 46,458,853 E254G probably benign Het
Nlrp4b A T 7: 10,714,223 I118F probably benign Het
Pkhd1 A T 1: 20,199,459 V3287D probably damaging Het
Ptpre T G 7: 135,669,802 V375G probably damaging Het
Rabgap1 A G 2: 37,541,175 E746G probably damaging Het
Sh2b2 C T 5: 136,224,467 C311Y probably damaging Het
Skor1 G A 9: 63,145,490 T399I probably damaging Het
Sptbn2 A G 19: 4,746,749 T1792A probably damaging Het
Tln1 G A 4: 43,543,432 probably benign Het
Tmc7 C A 7: 118,547,310 probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Tpte A G 8: 22,345,052 probably benign Het
Unc13a G A 8: 71,644,567 R1228W probably damaging Het
Vipr1 C T 9: 121,665,178 T275M probably damaging Het
Vmn1r177 G T 7: 23,866,328 P41Q possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K 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
IGL01463: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 On2013-11-11