Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03117:Parp4'

419480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Parp4

Ensembl Gene

ENSMUSG00000054509

Gene Name

poly (ADP-ribose) polymerase family, member 4

Synonyms

p193, Adprtl1, E230037B21Rik, PH5P, VAULT3, VPARP, C030027K23Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL03117

Quality Score

Status

Chromosome

Chromosomal Location

56575619-56659794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 56602856 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 573 (T573P)

Ref Sequence

ENSEMBL: ENSMUSP00000124258 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161553]

AlphaFold

E9PYK3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160334

Predicted Effect

probably benign
Transcript: ENSMUST00000161553
AA Change: T573P

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124258
Gene: ENSMUSG00000054509
AA Change: T573P

Domain	Start	End	E-Value	Type
BRCT	3	84	4.32e-9	SMART
low complexity region	97	104	N/A	INTRINSIC
SCOP:d1a26_1	252	352	2e-19	SMART
Pfam:PARP	371	559	1.8e-50	PFAM
VIT	600	728	1.5e-57	SMART
VWA	867	1030	6.08e-13	SMART
Blast:14_3_3	1149	1205	5e-10	BLAST
low complexity region	1255	1264	N/A	INTRINSIC
low complexity region	1348	1362	N/A	INTRINSIC
low complexity region	1371	1394	N/A	INTRINSIC
internal_repeat_1	1395	1416	4.48e-6	PROSPERO
Pfam:Drf_FH1	1443	1542	3.3e-15	PFAM
low complexity region	1553	1587	N/A	INTRINSIC
internal_repeat_2	1588	1608	2.45e-5	PROSPERO
low complexity region	1695	1708	N/A	INTRINSIC
low complexity region	1739	1750	N/A	INTRINSIC

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 poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are helathy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna2d3	A	G	14: 29,467,952	L109P	probably damaging	Het
Caprin2	A	T	6: 148,862,466	S568T	possibly damaging	Het
Catip	A	G	1: 74,364,585	T154A	probably null	Het
Ccdc129	A	G	6: 55,898,129	T355A	probably benign	Het
Ccdc187	A	G	2: 26,287,968	S270P	possibly damaging	Het
Ccdc88a	A	G	11: 29,374,559	Y39C	probably damaging	Het
Chrdl2	A	T	7: 100,027,580	H203L	possibly damaging	Het
Chrnb2	A	G	3: 89,763,245	V62A	probably damaging	Het
Cklf	T	A	8: 104,257,423	S73T	possibly damaging	Het
Clk1	A	G	1: 58,417,007		probably null	Het
Ctdp1	T	C	18: 80,449,501	D593G	probably damaging	Het
Ctsc	A	T	7: 88,309,780	I423F	probably damaging	Het
D130043K22Rik	T	A	13: 24,889,842	V968E	probably damaging	Het
Dennd4c	A	G	4: 86,777,903	S166G	possibly damaging	Het
Dnah2	G	T	11: 69,436,291		probably benign	Het
Dnajb11	G	T	16: 22,869,138	R206L	probably benign	Het
Dsel	A	T	1: 111,859,178		probably benign	Het
Ehd2	T	C	7: 15,950,471	S468G	possibly damaging	Het
Ehmt2	T	A	17: 34,906,811	V640E	possibly damaging	Het
Elmo2	T	A	2: 165,298,653	E299D	probably benign	Het
Eps8l1	T	C	7: 4,470,887	L231P	probably damaging	Het
Esd	A	G	14: 74,741,246	T83A	probably damaging	Het
Flt3	A	G	5: 147,356,210	F529L	probably benign	Het
Hnrnpu	G	A	1: 178,330,774		probably benign	Het
Hpx	G	T	7: 105,600,071	A7E	possibly damaging	Het
Ighv6-5	C	T	12: 114,416,700	V85M	possibly damaging	Het
Itpr3	G	A	17: 27,119,266	V2503I	probably damaging	Het
Matr3	G	T	18: 35,572,657	G212C	probably damaging	Het
Mrpl35	A	T	6: 71,816,279	Y129*	probably null	Het
Myh2	T	C	11: 67,180,884	I509T	possibly damaging	Het
Nat8l	G	T	5: 34,000,944	A233S	probably damaging	Het
Nipbl	A	C	15: 8,332,452	L1447W	probably damaging	Het
Paf1	T	A	7: 28,395,056	C31S	possibly damaging	Het
Phf12	A	T	11: 78,023,020		probably benign	Het
Pi4k2b	A	G	5: 52,748,423	E102G	probably benign	Het
Pou2f1	A	G	1: 165,934,813	C7R	probably benign	Het
Prpsap2	T	C	11: 61,740,989	R181G	probably benign	Het
Psd	A	G	19: 46,323,122		probably benign	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Rab21	A	T	10: 115,315,192		probably null	Het
Relb	T	C	7: 19,612,657	D330G	probably damaging	Het
Rhoc	A	T	3: 104,792,920	T100S	probably benign	Het
Ryr1	G	T	7: 29,102,964	H744N	probably damaging	Het
Sardh	C	T	2: 27,239,446	G280D	probably damaging	Het
Scyl2	A	C	10: 89,657,867	N346K	possibly damaging	Het
Sec16b	T	C	1: 157,535,400	F267S	probably damaging	Het
Slc44a5	T	A	3: 154,251,077	M322K	probably benign	Het
St8sia4	T	A	1: 95,591,783	N327Y	probably benign	Het
Tbl1xr1	T	A	3: 22,203,159	Y395*	probably null	Het
Unc13c	A	T	9: 73,534,025	S1897R	probably benign	Het
Vangl2	A	G	1: 172,012,848	S58P	probably damaging	Het
Vmn1r17	A	G	6: 57,360,516	I288T	probably benign	Het
Vmn1r236	A	G	17: 21,287,246	I209V	probably benign	Het
Zfp809	A	G	9: 22,238,654	Y149C	probably damaging	Het

Other mutations in Parp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Parp4	APN	14	56616460	missense	possibly damaging	0.82
IGL00571:Parp4	APN	14	56647353	missense	unknown
IGL00737:Parp4	APN	14	56584163	missense	probably damaging	0.99
IGL00793:Parp4	APN	14	56602877	missense	possibly damaging	0.73
IGL01108:Parp4	APN	14	56607440	missense	probably benign	0.01
IGL01131:Parp4	APN	14	56585760	splice site	probably benign
IGL01485:Parp4	APN	14	56622204	missense	possibly damaging	0.54
IGL01704:Parp4	APN	14	56602326	missense	probably damaging	0.99
IGL01993:Parp4	APN	14	56610788	missense	possibly damaging	0.82
IGL02125:Parp4	APN	14	56590502	missense	probably benign	0.33
IGL02851:Parp4	APN	14	56648869	missense	unknown
IGL02863:Parp4	APN	14	56648786	missense	unknown
IGL03065:Parp4	APN	14	56637869	missense	probably benign	0.09
IGL03271:Parp4	APN	14	56585625	missense	probably benign	0.10
IGL03309:Parp4	APN	14	56587808	missense	probably benign	0.11
IGL03408:Parp4	APN	14	56602408	missense	probably damaging	0.99
poisonous	UTSW	14	56635748	missense	possibly damaging	0.65
R0515_Parp4_195	UTSW	14	56613667	missense	probably damaging	1.00
toxic	UTSW	14	56629158	missense	probably benign	0.28
venomous	UTSW	14	56589898	missense	possibly damaging	0.92
virulent	UTSW	14	56587778	missense	probably damaging	0.97
R0278:Parp4	UTSW	14	56607523	missense	probably damaging	0.99
R0320:Parp4	UTSW	14	56588496	critical splice donor site	probably null
R0445:Parp4	UTSW	14	56602748	splice site	probably null
R0452:Parp4	UTSW	14	56648843	missense	unknown
R0511:Parp4	UTSW	14	56635715	splice site	probably benign
R0515:Parp4	UTSW	14	56613667	missense	probably damaging	1.00
R0608:Parp4	UTSW	14	56602404	missense	probably damaging	1.00
R0800:Parp4	UTSW	14	56589951	missense	probably benign	0.00
R0959:Parp4	UTSW	14	56648119	missense	unknown
R1207:Parp4	UTSW	14	56647882	missense	unknown
R1207:Parp4	UTSW	14	56647882	missense	unknown
R1342:Parp4	UTSW	14	56590397	missense	probably damaging	1.00
R1520:Parp4	UTSW	14	56598406	missense	probably damaging	1.00
R1565:Parp4	UTSW	14	56589872	splice site	probably benign
R1574:Parp4	UTSW	14	56602295	missense	probably damaging	0.98
R1574:Parp4	UTSW	14	56602295	missense	probably damaging	0.98
R1649:Parp4	UTSW	14	56590428	missense	possibly damaging	0.95
R1666:Parp4	UTSW	14	56624163	missense	possibly damaging	0.91
R1781:Parp4	UTSW	14	56627381	splice site	probably null
R1799:Parp4	UTSW	14	56648132	missense	unknown
R1823:Parp4	UTSW	14	56589872	splice site	probably benign
R1859:Parp4	UTSW	14	56648915	missense	unknown
R1919:Parp4	UTSW	14	56624017	missense	probably damaging	1.00
R2000:Parp4	UTSW	14	56613724	missense	probably damaging	0.98
R2032:Parp4	UTSW	14	56629096	missense	possibly damaging	0.71
R2034:Parp4	UTSW	14	56634263	missense	probably damaging	1.00
R2177:Parp4	UTSW	14	56659289	missense	unknown
R2291:Parp4	UTSW	14	56613817	missense	probably damaging	1.00
R2865:Parp4	UTSW	14	56613724	missense	probably damaging	0.98
R3012:Parp4	UTSW	14	56595416	critical splice donor site	probably null
R3841:Parp4	UTSW	14	56587778	missense	probably damaging	0.97
R3913:Parp4	UTSW	14	56620518	missense	probably damaging	1.00
R4064:Parp4	UTSW	14	56624140	missense	probably benign	0.06
R4201:Parp4	UTSW	14	56592391	missense	possibly damaging	0.95
R4288:Parp4	UTSW	14	56607494	missense	probably damaging	1.00
R4360:Parp4	UTSW	14	56629204	missense	possibly damaging	0.89
R4506:Parp4	UTSW	14	56652304	missense	unknown
R4577:Parp4	UTSW	14	56590410	missense	probably benign	0.33
R4633:Parp4	UTSW	14	56647591	missense	unknown
R4762:Parp4	UTSW	14	56610810	missense	probably damaging	1.00
R4836:Parp4	UTSW	14	56585738	missense	probably benign	0.00
R4974:Parp4	UTSW	14	56589898	missense	possibly damaging	0.92
R5049:Parp4	UTSW	14	56635731	missense	possibly damaging	0.81
R5479:Parp4	UTSW	14	56624095	missense	probably benign	0.01
R5683:Parp4	UTSW	14	56647429	nonsense	probably null
R5884:Parp4	UTSW	14	56614750	missense	probably damaging	1.00
R5965:Parp4	UTSW	14	56624032	missense	probably benign	0.11
R6001:Parp4	UTSW	14	56641283	missense	probably benign	0.01
R6027:Parp4	UTSW	14	56629158	missense	probably benign	0.28
R6230:Parp4	UTSW	14	56607533	missense	probably damaging	1.00
R6242:Parp4	UTSW	14	56595399	nonsense	probably null
R6355:Parp4	UTSW	14	56602300	missense	possibly damaging	0.61
R6414:Parp4	UTSW	14	56627381	splice site	probably null
R6418:Parp4	UTSW	14	56620651	critical splice donor site	probably null
R6477:Parp4	UTSW	14	56647237	missense	probably benign	0.00
R6542:Parp4	UTSW	14	56647882	missense	unknown
R6759:Parp4	UTSW	14	56620490	missense	probably benign	0.10
R6995:Parp4	UTSW	14	56613739	missense	probably damaging	0.97
R7002:Parp4	UTSW	14	56602404	missense	probably damaging	1.00
R7026:Parp4	UTSW	14	56620592	missense	probably benign	0.01
R7062:Parp4	UTSW	14	56614759	missense	possibly damaging	0.48
R7101:Parp4	UTSW	14	56589973	missense	probably benign	0.02
R7124:Parp4	UTSW	14	56602799	missense	probably benign	0.11
R7162:Parp4	UTSW	14	56648876	missense	unknown
R7293:Parp4	UTSW	14	56647846	small deletion	probably benign
R7297:Parp4	UTSW	14	56647681	missense	not run
R7337:Parp4	UTSW	14	56602395	missense	probably damaging	1.00
R7539:Parp4	UTSW	14	56635755	missense	probably damaging	1.00
R7575:Parp4	UTSW	14	56637918	missense	probably benign	0.28
R7808:Parp4	UTSW	14	56635748	missense	possibly damaging	0.65
R7854:Parp4	UTSW	14	56659348	missense	unknown
R7960:Parp4	UTSW	14	56595251	splice site	probably null
R8152:Parp4	UTSW	14	56647246	missense	probably benign	0.00
R8344:Parp4	UTSW	14	56648729	missense	unknown
R8416:Parp4	UTSW	14	56587814	critical splice donor site	probably null
R8726:Parp4	UTSW	14	56629099	missense	probably benign	0.04
R8752:Parp4	UTSW	14	56648616	missense	unknown
R8804:Parp4	UTSW	14	56616443	nonsense	probably null
R9046:Parp4	UTSW	14	56627470	missense	probably damaging	0.98
R9176:Parp4	UTSW	14	56635817	missense	possibly damaging	0.54
R9303:Parp4	UTSW	14	56595333	frame shift	probably null
R9303:Parp4	UTSW	14	56614767	critical splice donor site	probably null
R9305:Parp4	UTSW	14	56595333	frame shift	probably null
R9305:Parp4	UTSW	14	56614767	critical splice donor site	probably null
R9360:Parp4	UTSW	14	56641318	critical splice donor site	probably null
R9430:Parp4	UTSW	14	56629216	missense	probably damaging	1.00
RF020:Parp4	UTSW	14	56647349	missense	unknown
Z1177:Parp4	UTSW	14	56592367	missense	probably damaging	1.00

Posted On

2016-08-02