Incidental Mutation 'IGL01684:Tiparp'
ID103881
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: 0.793) question?
Stock #IGL01684
Quality Score
Status
Chromosome3
Chromosomal Location65528410-65555518 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65553333 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Isoleucine at position 581 (K581I)
Ref Sequence ENSEMBL: ENSMUSP00000048051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047906]
Predicted Effect probably damaging
Transcript: ENSMUST00000047906
AA Change: K581I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: K581I

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ammecr1l G T 18: 31,771,768 V21F probably damaging Het
Aox1 G A 1: 58,077,581 probably null Het
BC024139 A G 15: 76,124,685 L283P probably damaging Het
Cacna1h C T 17: 25,388,716 G876S probably damaging Het
Ccdc66 T C 14: 27,500,249 E179G possibly damaging Het
Ckap5 T G 2: 91,555,354 D182E probably benign Het
Clk1 A G 1: 58,417,265 probably null Het
Dhx34 G A 7: 16,203,279 T831M probably damaging Het
Enox1 T C 14: 77,579,093 I171T possibly damaging Het
Fscn2 G A 11: 120,367,305 R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 S460L probably benign Het
Gramd1a A G 7: 31,138,905 S308P possibly damaging Het
Guca1a T C 17: 47,395,143 D137G probably null Het
Heatr5a G A 12: 51,955,511 T214I probably benign Het
Klf7 T C 1: 64,120,892 probably benign Het
Macf1 A G 4: 123,465,930 S1854P probably damaging Het
Mau2 A T 8: 70,029,245 probably benign Het
Mdn1 A G 4: 32,726,857 I2639V probably benign Het
Mylk A G 16: 34,971,940 M1544V possibly damaging Het
Ogdh G T 11: 6,342,546 V420L probably damaging Het
Olfr1458 A G 19: 13,102,989 F105S possibly damaging Het
Olfr532 T C 7: 140,418,915 N286S probably damaging Het
Pcm1 A G 8: 41,257,923 T77A probably benign Het
Piezo2 T A 18: 63,083,170 I947F probably damaging Het
Prrc2c A T 1: 162,706,462 probably benign Het
Ptch2 A G 4: 117,104,787 E107G probably damaging Het
Rmdn3 T C 2: 119,147,574 E182G probably damaging Het
Rpl23a-ps3 C T 14: 34,170,788 noncoding transcript Het
Sorl1 T C 9: 41,980,711 D1881G probably damaging Het
Tbc1d19 A G 5: 53,856,879 N283S probably benign Het
Tcf20 A G 15: 82,857,160 F30S probably damaging Het
Tle3 T C 9: 61,403,446 probably benign Het
Ubr3 C A 2: 70,016,158 Y1608* probably null Het
Vmn1r59 T C 7: 5,454,300 T154A probably benign Het
Vta1 A G 10: 14,684,131 I115T probably damaging Het
Wwtr1 C A 3: 57,575,789 R31L probably damaging Het
Zfp385b T C 2: 77,719,675 D22G possibly damaging Het
Zfp516 A G 18: 82,957,201 E508G probably damaging Het
Zfp735 T A 11: 73,690,365 V76E possibly 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
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
IGL02322:Tiparp APN 3 65532020 nonsense probably null
IGL02572:Tiparp APN 3 65531889 missense probably benign 0.01
BB003:Tiparp UTSW 3 65553525 missense possibly damaging 0.61
BB013:Tiparp UTSW 3 65553525 missense possibly damaging 0.61
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
R7926:Tiparp UTSW 3 65553525 missense possibly damaging 0.61
R8023:Tiparp UTSW 3 65531803 missense probably benign 0.01
R8234:Tiparp UTSW 3 65531581 missense probably benign
R8416:Tiparp UTSW 3 65531346 missense probably benign 0.00
R8487:Tiparp UTSW 3 65546234 missense probably benign 0.06
R8547:Tiparp UTSW 3 65546377 critical splice donor site probably null
R8690:Tiparp UTSW 3 65553542 missense probably benign 0.17
R8750:Tiparp UTSW 3 65552704 missense probably damaging 0.99
R8900:Tiparp UTSW 3 65553182 missense probably damaging 1.00
R8940:Tiparp UTSW 3 65531878 missense probably benign 0.00
Posted On2014-01-21