Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01454:Tiparp'

84719

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: 0.829) question?

Stock #

IGL01454

Quality Score

Status

Chromosome

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*

Domain	Start	End	E-Value	Type
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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap25	G	A	6: 87,473,058 (GRCm39)	A33V	possibly damaging	Het
BC004004	T	C	17: 29,512,995 (GRCm39)	S140P	possibly damaging	Het
Cul3	T	C	1: 80,281,900 (GRCm39)	D26G	probably damaging	Het
Dnah17	A	T	11: 117,949,223 (GRCm39)	F2929I	probably damaging	Het
Gm21560	A	G	14: 6,216,286 (GRCm38)	F186L	probably benign	Het
Krt32	C	T	11: 99,974,907 (GRCm39)	E347K	probably damaging	Het
Mtarc1	A	G	1: 184,539,377 (GRCm39)	L98P	probably damaging	Het
Myh8	T	C	11: 67,174,422 (GRCm39)	I223T	probably damaging	Het
Nr4a3	T	A	4: 48,067,803 (GRCm39)	D466E	probably damaging	Het
Plxnb1	A	T	9: 108,942,422 (GRCm39)	D1757V	probably damaging	Het
Pnpt1	T	C	11: 29,087,142 (GRCm39)	I167T	probably benign	Het
Polrmt	T	C	10: 79,579,517 (GRCm39)	E78G	possibly damaging	Het
Pparg	A	G	6: 115,416,900 (GRCm39)	D31G	probably damaging	Het
Trio	T	C	15: 27,833,071 (GRCm39)	I104V	probably benign	Het
Vgll4	A	G	6: 114,840,957 (GRCm39)	V113A	probably benign	Het
Vmn2r4	A	T	3: 64,313,816 (GRCm39)	N388K	probably damaging	Het
Zscan20	T	C	4: 128,483,334 (GRCm39)	E445G	probably benign	Het

Other mutations in Tiparp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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