Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03365:Parp12'

420053

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp12

Ensembl Gene

ENSMUSG00000038507

Gene Name

poly (ADP-ribose) polymerase family, member 12

Synonyms

Zc3hdc1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

IGL03365

Quality Score

Status

Chromosome

Chromosomal Location

39086410-39118349 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39102647 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 310 (R310W)

Ref Sequence

ENSEMBL: ENSMUSP00000039704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038398]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038398
AA Change: R310W

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

SMART Domains

Protein: ENSMUSP00000039704
Gene: ENSMUSG00000038507
AA Change: R310W

Domain	Start	End	E-Value	Type
low complexity region	2	11	N/A	INTRINSIC
low complexity region	17	32	N/A	INTRINSIC
low complexity region	51	83	N/A	INTRINSIC
ZnF_C3H1	99	127	2.79e1	SMART
ZnF_C3H1	186	210	1.36e-2	SMART
ZnF_C3H1	280	306	2.03e1	SMART
Pfam:WWE	385	468	1.3e-16	PFAM
Pfam:PARP	506	689	5.2e-48	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	G	5: 24,997,811		probably benign	Het
5830411N06Rik	T	A	7: 140,296,769	V691E	probably damaging	Het
Adam6a	T	A	12: 113,544,145	I46N	possibly damaging	Het
Adipor1	A	G	1: 134,431,642	D371G	possibly damaging	Het
Akr1c21	C	T	13: 4,583,852	P307S	probably benign	Het
Asxl1	T	A	2: 153,401,754	I1408N	probably damaging	Het
Avil	T	C	10: 127,010,983	V472A	probably damaging	Het
Bpifa6	C	A	2: 153,989,284	Q257K	possibly damaging	Het
Cacna2d4	G	T	6: 119,271,264	V380L	probably benign	Het
Clip1	A	C	5: 123,583,586	S1111A	probably damaging	Het
Dennd4c	A	G	4: 86,807,426		probably null	Het
Dock8	C	T	19: 25,099,684	P506L	possibly damaging	Het
Ecsit	A	C	9: 22,076,526	H72Q	probably damaging	Het
Eif1b	T	A	9: 120,494,120	D15E	probably benign	Het
Enpp1	A	G	10: 24,669,025	Y319H	probably damaging	Het
Fam126a	A	T	5: 23,983,160	Y245N	probably benign	Het
Fat3	T	C	9: 15,996,469	N2746D	probably damaging	Het
Fgf20	G	T	8: 40,279,891	L115I	possibly damaging	Het
Hip1r	C	T	5: 124,000,167	R775W	probably damaging	Het
Lrp12	A	T	15: 39,872,521	S672T	probably benign	Het
Morf4l2	A	G	X: 136,733,715	Y255H	probably benign	Het
Mri1	A	G	8: 84,251,633	V343A	possibly damaging	Het
Mybphl	T	A	3: 108,364,998	M1K	probably null	Het
Nelfcd	G	A	2: 174,426,832	A559T	possibly damaging	Het
Ofd1	C	A	X: 166,392,516	V951F	probably damaging	Het
Olfr1301	G	T	2: 111,754,427	M59I	possibly damaging	Het
Olfr550	G	T	7: 102,578,629	V45F	probably benign	Het
Olfr784	T	A	10: 129,388,239	V202D	possibly damaging	Het
Pcdh11x	T	A	X: 120,516,238	D1019E	probably benign	Het
Ppp1r9a	T	A	6: 5,110,993		probably benign	Het
Ptprz1	T	A	6: 23,030,582		probably benign	Het
Qser1	T	A	2: 104,786,999	N1156I	probably damaging	Het
Rgs3	T	A	4: 62,689,675	D59E	probably benign	Het
Rims2	T	C	15: 39,476,541	F917S	probably damaging	Het
Sap30bp	G	A	11: 115,964,252	V263M	possibly damaging	Het
Scfd2	G	T	5: 74,530,935	H229N	possibly damaging	Het
Sspo	T	C	6: 48,459,415	V1233A	possibly damaging	Het
Stam	T	A	2: 14,146,390	Y519*	probably null	Het
Svs1	A	G	6: 48,988,597	D513G	probably damaging	Het
Synj2	A	G	17: 6,019,404	T602A	probably damaging	Het
Tas2r126	C	T	6: 42,435,457	A308V	probably benign	Het
Tm4sf20	T	C	1: 82,768,227		probably benign	Het
Ttc23	G	A	7: 67,662,337		probably benign	Het
Vmn1r90	T	C	7: 14,561,304	I290V	probably damaging	Het
Xirp1	A	C	9: 120,018,539	L426W	probably damaging	Het
Zgrf1	T	G	3: 127,598,774	F430L	possibly damaging	Het

Other mutations in Parp12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Parp12	APN	6	39096590	missense	probably benign	0.01
IGL02937:Parp12	APN	6	39102581	missense	probably damaging	1.00
IGL03032:Parp12	APN	6	39087586	splice site	probably null
IGL03149:Parp12	APN	6	39114231	missense	probably benign	0.07
I1329:Parp12	UTSW	6	39087571	missense	probably damaging	1.00
R1016:Parp12	UTSW	6	39111726	missense	probably damaging	1.00
R1446:Parp12	UTSW	6	39102561	missense	probably benign	0.00
R1640:Parp12	UTSW	6	39096640	missense	probably benign	0.38
R1640:Parp12	UTSW	6	39111678	missense	probably damaging	1.00
R4794:Parp12	UTSW	6	39117810	missense	probably benign	0.02
R5324:Parp12	UTSW	6	39102612	missense	probably damaging	0.99
R5411:Parp12	UTSW	6	39090208	missense	probably damaging	1.00
R6862:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R6864:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R6865:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7124:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7126:Parp12	UTSW	6	39111736	missense	probably benign	0.02
R7935:Parp12	UTSW	6	39102678	missense	possibly damaging	0.70
R8050:Parp12	UTSW	6	39089104	missense	probably damaging	1.00
R8403:Parp12	UTSW	6	39091345	missense	probably benign	0.06
R8686:Parp12	UTSW	6	39117922	missense	probably benign	0.00
R8792:Parp12	UTSW	6	39089050	missense	probably benign	0.00
R8813:Parp12	UTSW	6	39096574	missense	probably damaging	1.00

Posted On

2016-08-02