Mutagenetix > Incidental Mutation

Incidental Mutation 'R1316:Tiparp'

157538

Institutional Source

Beutler Lab

Gene Symbol

Tiparp

Ensembl Gene

ENSMUSG00000034640

Gene Name

TCDD-inducible poly(ADP-ribose) polymerase

Synonyms

PARP7, DDF1, PARP-7

MMRRC Submission

039382-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R1316 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65435868-65462939 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 65460772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 587 (F587C)

Ref Sequence

ENSEMBL: ENSMUSP00000048051 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047906]

AlphaFold

Q8C1B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000047906
AA Change: F587C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048051
Gene: ENSMUSG00000034640
AA Change: F587C

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

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C1qtnf12	G	A	4: 156,050,331 (GRCm39)	E223K	probably damaging	Het
Cmpk1	A	G	4: 114,828,487 (GRCm39)		probably benign	Het
Col11a1	G	A	3: 113,932,619 (GRCm39)		probably null	Het
Ears2	T	C	7: 121,645,905 (GRCm39)	T337A	probably benign	Het
Erbin	T	C	13: 103,977,742 (GRCm39)	K605R	possibly damaging	Het
Irs3	T	C	5: 137,642,703 (GRCm39)	E245G	probably damaging	Het
Limch1	T	C	5: 67,156,586 (GRCm39)	I223T	probably damaging	Het
Lrp1b	T	C	2: 40,592,816 (GRCm39)	T3768A	probably benign	Het
Notch4	G	A	17: 34,786,444 (GRCm39)	D195N	probably damaging	Het
Or5b109	T	C	19: 13,211,803 (GRCm39)	F63S	probably damaging	Het
Or7g25	T	A	9: 19,160,035 (GRCm39)	Q220L	probably benign	Het
Or8b12b	T	C	9: 37,684,039 (GRCm39)	F28S	possibly damaging	Het
Or8u8	T	C	2: 86,011,709 (GRCm39)	S249G	probably benign	Het
Podxl2	A	G	6: 88,826,199 (GRCm39)	L369P	probably benign	Het
Rnf149	A	G	1: 39,604,401 (GRCm39)	*45Q	probably null	Het
Scart2	T	C	7: 139,879,583 (GRCm39)	V957A	probably benign	Het
Slc4a11	T	A	2: 130,528,071 (GRCm39)	E528V	probably benign	Het
Slc9a1	A	G	4: 133,149,558 (GRCm39)	R795G	possibly damaging	Het
Slco6d1	A	T	1: 98,394,518 (GRCm39)	M401L	probably benign	Het
Vmn2r120	T	C	17: 57,832,939 (GRCm39)	Q80R	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCATCCAAGTGCCTGTTTCTGC -3'
(R):5'- ACCTGCTACAAATGCTGGATTGAGTT -3'

Sequencing Primer
(F):5'- AATGTCTGGCCGTGACAG -3'
(R):5'- GGAAACAGTGTTACTGACTTCTTC -3'

Posted On

2014-02-18