Incidental Mutation 'IGL01463:Tiparp'
ID 278500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tiparp
Ensembl Gene ENSMUSG00000034640
Gene Name TCDD-inducible poly(ADP-ribose) polymerase
Synonyms PARP7, DDF1, PARP-7
Accession Numbers
Essential gene? Probably essential (E-score: 0.778) question?
Stock # IGL01463
Quality Score
Status
Chromosome 3
Chromosomal Location 65435868-65462939 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 65460030 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8C1B2
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: 8,142,790 (GRCm39) D773G probably damaging Het
Clvs1 A G 4: 9,429,818 (GRCm39) T274A probably benign Het
Cyp2c50 G T 19: 40,079,422 (GRCm39) C172F probably damaging Het
Fam83h G T 15: 75,875,637 (GRCm39) R567S possibly damaging Het
Fastkd1 A G 2: 69,520,405 (GRCm39) probably null Het
Gmds A T 13: 32,418,341 (GRCm39) Y48N probably damaging Het
Mov10 C T 3: 104,707,640 (GRCm39) R578H probably damaging Het
Pcna A T 2: 132,093,349 (GRCm39) Y133N probably damaging Het
Rhag T C 17: 41,139,646 (GRCm39) I126T probably damaging Het
Sdr16c6 C T 4: 4,063,238 (GRCm39) G179D probably damaging Het
Sv2b C T 7: 74,786,203 (GRCm39) G406S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r93 T A 17: 18,525,150 (GRCm39) N269K probably damaging Het
Other mutations in Tiparp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Tiparp APN 3 65,439,530 (GRCm39) missense probably damaging 1.00
IGL01448:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01452:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01454:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01456:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01467:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01468:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01470:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01476:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01481:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01590:Tiparp APN 3 65,439,397 (GRCm39) missense probably benign 0.14
IGL01684:Tiparp APN 3 65,460,754 (GRCm39) missense probably damaging 0.99
IGL02322:Tiparp APN 3 65,439,441 (GRCm39) nonsense probably null
IGL02572:Tiparp APN 3 65,439,310 (GRCm39) missense probably benign 0.01
Albania UTSW 3 65,460,948 (GRCm39) missense probably damaging 1.00
Moldova UTSW 3 65,460,603 (GRCm39) missense probably damaging 1.00
BB003:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
BB013:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
R0401:Tiparp UTSW 3 65,438,857 (GRCm39) missense probably benign 0.06
R0674:Tiparp UTSW 3 65,460,586 (GRCm39) missense probably benign 0.03
R1316:Tiparp UTSW 3 65,460,772 (GRCm39) missense probably damaging 1.00
R1766:Tiparp UTSW 3 65,439,470 (GRCm39) missense probably damaging 1.00
R2140:Tiparp UTSW 3 65,436,673 (GRCm39) intron probably benign
R2568:Tiparp UTSW 3 65,460,551 (GRCm39) nonsense probably null
R4533:Tiparp UTSW 3 65,453,768 (GRCm39) missense probably benign 0.05
R4751:Tiparp UTSW 3 65,460,225 (GRCm39) missense probably damaging 1.00
R4812:Tiparp UTSW 3 65,460,190 (GRCm39) missense possibly damaging 0.94
R5268:Tiparp UTSW 3 65,454,986 (GRCm39) missense possibly damaging 0.72
R5622:Tiparp UTSW 3 65,454,946 (GRCm39) missense probably benign 0.00
R5693:Tiparp UTSW 3 65,460,913 (GRCm39) missense possibly damaging 0.89
R5765:Tiparp UTSW 3 65,438,771 (GRCm39) missense possibly damaging 0.69
R6061:Tiparp UTSW 3 65,460,664 (GRCm39) missense probably damaging 0.98
R6875:Tiparp UTSW 3 65,439,063 (GRCm39) missense probably benign 0.01
R7123:Tiparp UTSW 3 65,460,948 (GRCm39) missense probably damaging 1.00
R7926:Tiparp UTSW 3 65,460,946 (GRCm39) missense possibly damaging 0.61
R8023:Tiparp UTSW 3 65,439,224 (GRCm39) missense probably benign 0.01
R8234:Tiparp UTSW 3 65,439,002 (GRCm39) missense probably benign
R8416:Tiparp UTSW 3 65,438,767 (GRCm39) missense probably benign 0.00
R8487:Tiparp UTSW 3 65,453,655 (GRCm39) missense probably benign 0.06
R8547:Tiparp UTSW 3 65,453,798 (GRCm39) critical splice donor site probably null
R8690:Tiparp UTSW 3 65,460,963 (GRCm39) missense probably benign 0.17
R8750:Tiparp UTSW 3 65,460,125 (GRCm39) missense probably damaging 0.99
R8900:Tiparp UTSW 3 65,460,603 (GRCm39) missense probably damaging 1.00
R8940:Tiparp UTSW 3 65,439,299 (GRCm39) missense probably benign 0.00
R9323:Tiparp UTSW 3 65,439,272 (GRCm39) missense probably benign 0.01
R9505:Tiparp UTSW 3 65,439,577 (GRCm39) nonsense probably null
R9558:Tiparp UTSW 3 65,438,852 (GRCm39) missense possibly damaging 0.96
R9597:Tiparp UTSW 3 65,438,701 (GRCm39) missense probably benign
R9799:Tiparp UTSW 3 65,454,973 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16