Incidental Mutation 'IGL01448:Tiparp'
ID 84499
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 # IGL01448
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp512b T C 2: 181,229,578 (GRCm39) T625A possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Tiparp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Tiparp APN 3 65,439,530 (GRCm39) missense probably damaging 1.00
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
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 2013-11-11