Incidental Mutation 'IGL01468:Tiparp'
ID 278507
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 # IGL01468
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 79,839,711 (GRCm39) V781I probably benign Het
Aldh5a1 G T 13: 25,095,536 (GRCm39) probably benign Het
Arhgap12 T C 18: 6,057,576 (GRCm39) T435A probably benign Het
Atrnl1 G A 19: 57,688,144 (GRCm39) V870I probably benign Het
Cerkl A T 2: 79,173,559 (GRCm39) probably null Het
Cntnap2 T A 6: 47,248,305 (GRCm39) L13* probably null Het
Cr2 G A 1: 194,850,843 (GRCm39) P208S probably damaging Het
Dapk1 A G 13: 60,908,612 (GRCm39) D1075G probably benign Het
Dhx57 T A 17: 80,563,039 (GRCm39) K863* probably null Het
Dnaaf5 C A 5: 139,137,235 (GRCm39) probably null Het
Fbxw7 T A 3: 84,879,806 (GRCm39) I336K probably benign Het
Ftcd A G 10: 76,420,421 (GRCm39) D385G probably benign Het
Gm10153 T C 7: 141,743,778 (GRCm39) S117G unknown Het
Gzmb T C 14: 56,497,772 (GRCm39) Y156C probably benign Het
Herc3 T A 6: 58,831,880 (GRCm39) D83E probably benign Het
Kif2b A G 11: 91,467,191 (GRCm39) V364A probably damaging Het
Mknk2 A G 10: 80,503,498 (GRCm39) probably benign Het
Or7a36 A T 10: 78,819,696 (GRCm39) Q24L probably damaging Het
Pgm1 A T 4: 99,819,367 (GRCm39) N197I possibly damaging Het
Prss39 C T 1: 34,538,481 (GRCm39) probably benign Het
Shroom3 T C 5: 93,088,201 (GRCm39) V236A probably damaging Het
Slc17a8 C T 10: 89,427,883 (GRCm39) probably null Het
Slc24a3 A G 2: 145,455,500 (GRCm39) Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 (GRCm38) E149G probably damaging Het
Synj1 G A 16: 90,807,060 (GRCm39) probably benign Het
Tas2r138 T A 6: 40,589,410 (GRCm39) M279L probably benign Het
Terb1 A G 8: 105,208,799 (GRCm39) probably benign Het
Trmt5 C T 12: 73,327,878 (GRCm39) V442I probably benign Het
Tsc2 T C 17: 24,840,071 (GRCm39) I383V possibly damaging Het
Uchl4 A G 9: 64,142,998 (GRCm39) T160A possibly damaging Het
Vmn2r3 A T 3: 64,182,382 (GRCm39) M439K possibly damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r52 A T 7: 9,892,868 (GRCm39) L757Q probably damaging Het
Zfp518a T C 19: 40,904,475 (GRCm39) V1468A probably benign Het
Zxdc A T 6: 90,350,761 (GRCm39) E404V 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
IGL01463:Tiparp APN 3 65,460,030 (GRCm39) nonsense probably null
IGL01467: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