Incidental Mutation 'IGL02322:Tiparp'
ID288278
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: 0.835) question?
Stock #IGL02322
Quality Score
Status
Chromosome3
Chromosomal Location65528410-65555518 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 65532020 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 70 (C70*)
Ref Sequence ENSEMBL: ENSMUSP00000119951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047906] [ENSMUST00000130705]
Predicted Effect probably null
Transcript: ENSMUST00000047906
AA Change: C252*
SMART Domains Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: C252*

DomainStartEndE-ValueType
Blast:ZnF_C3H1 238 264 2e-8 BLAST
Pfam:PARP 463 650 2e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000099076
SMART Domains Protein: ENSMUSP00000096675
Gene: ENSMUSG00000074580

DomainStartEndE-ValueType
low complexity region 16 42 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000130705
AA Change: C70*
SMART Domains Protein: ENSMUSP00000119951
Gene: ENSMUSG00000034640
AA Change: C70*

DomainStartEndE-ValueType
Blast:ZnF_C3H1 56 82 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193051
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 105,698,636 A355V probably benign Het
Adam9 A G 8: 24,955,974 V801A probably damaging Het
Ankrd36 T A 11: 5,614,619 V479D possibly damaging Het
Arid5a C T 1: 36,319,416 P423L probably benign Het
Atp13a4 T C 16: 29,440,102 I650V probably benign Het
B4gat1 C A 19: 5,039,127 P51T possibly damaging Het
Caskin2 G A 11: 115,804,477 T310M probably damaging Het
Ccdc121 A G 1: 181,510,434 S318P possibly damaging Het
Ccdc159 G T 9: 21,929,373 V79L possibly damaging Het
Ccser2 A T 14: 36,909,129 V18E probably damaging Het
Cct8l1 T C 5: 25,517,583 V432A probably benign Het
Cdh11 A T 8: 102,647,519 F529Y probably benign Het
Cep250 A G 2: 155,990,328 E1370G probably damaging Het
Col22a1 C A 15: 71,822,653 G717C unknown Het
Csmd2 T C 4: 128,463,727 probably benign Het
Ctrb1 A C 8: 111,689,319 probably null Het
Cyp2b19 T C 7: 26,762,378 S208P possibly damaging Het
Dnmt3l T A 10: 78,052,738 I158N possibly damaging Het
Evi5l T C 8: 4,187,236 probably benign Het
Fkbpl A G 17: 34,645,324 E22G probably benign Het
Flnb T A 14: 7,894,676 F825I probably damaging Het
Gjb6 A T 14: 57,124,275 N176K probably damaging Het
Gpc2 G T 5: 138,276,237 probably null Het
H1fnt T C 15: 98,256,876 T131A possibly damaging Het
Il20 C T 1: 130,909,576 C104Y probably damaging Het
Mgat5 A G 1: 127,382,985 N212S probably benign Het
Olfm5 C T 7: 104,154,401 G210D probably damaging Het
Olfr1226 T A 2: 89,193,462 T191S probably damaging Het
Olfr1387 A G 11: 49,459,957 S93G probably benign Het
Olig2 T C 16: 91,226,658 S87P probably benign Het
Osbpl7 G T 11: 97,056,124 A418S probably benign Het
Otog G T 7: 46,301,457 R2551L probably benign Het
Oxt A T 2: 130,576,280 N24I probably damaging Het
Pibf1 A G 14: 99,210,983 Y626C probably damaging Het
Plekhh2 A T 17: 84,589,466 K934* probably null Het
Pramef17 G A 4: 143,992,021 probably benign Het
Prdm9 A T 17: 15,562,848 N57K probably damaging Het
Rapsn A G 2: 91,041,906 D195G possibly damaging Het
Rimbp3 T G 16: 17,211,615 F968V probably benign Het
Rpgrip1 A G 14: 52,150,042 N1047S possibly damaging Het
Slc35g1 C T 19: 38,400,565 R107* probably null Het
Ssh2 A C 11: 77,416,413 probably null Het
Vmn2r110 A G 17: 20,573,935 I824T probably damaging Het
Vmn2r78 T C 7: 86,921,479 S402P probably damaging Het
Vps13c A G 9: 67,937,901 E2089G probably benign Het
Xirp2 A T 2: 67,508,738 H441L probably benign Het
Zdhhc3 C T 9: 123,100,477 G31D probably benign Het
Zfp330 A G 8: 82,770,821 L64S 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
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
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