Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02127:Papolg'

280934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Papolg

Ensembl Gene

ENSMUSG00000020273

Gene Name

poly(A) polymerase gamma

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL02127

Quality Score

Status

Chromosome

Chromosomal Location

23862646-23895253 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 23870870 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020513] [ENSMUST00000102863]

Predicted Effect

probably benign
Transcript: ENSMUST00000020513

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
Pfam:PAP_central	20	363	1.4e-118	PFAM
Pfam:NTP_transf_2	53	174	2.8e-15	PFAM
Pfam:PAP_RNA-bind	365	431	2.4e-22	PFAM
Pfam:PAP_RNA-bind	421	506	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102863

SMART Domains

Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
Pfam:PAP_central	16	364	1.5e-111	PFAM
Pfam:NTP_transf_2	89	174	9.2e-12	PFAM
Pfam:PAP_RNA-bind	365	429	6.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145013

SMART Domains

Protein: ENSMUSP00000115518
Gene: ENSMUSG00000020273

Domain	Start	End	E-Value	Type
SCOP:d1f5aa1	2	29	3e-10	SMART
PDB:4LT6\|B	2	38	4e-16	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150711

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(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,897,880	M661K	probably benign	Het
Arpin	G	A	7: 79,928,193	R163W	probably benign	Het
Atm	C	A	9: 53,487,983	D1573Y	probably damaging	Het
Avil	A	G	10: 127,011,826	N540S	probably benign	Het
Btnl6	T	C	17: 34,514,043	Q282R	probably benign	Het
Cacna2d3	T	C	14: 29,063,875		probably benign	Het
Cd300ld4	T	C	11: 115,022,719	N170S	probably benign	Het
Cgnl1	T	A	9: 71,725,853	N72I	probably damaging	Het
Cntnap3	T	C	13: 64,799,064		probably benign	Het
Col27a1	A	T	4: 63,225,142	T356S	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2c69	G	T	19: 39,851,057	T374N	probably damaging	Het
Cyp2d26	T	C	15: 82,791,106	E349G	probably benign	Het
Dnah1	T	C	14: 31,304,928	E713G	probably benign	Het
Dnah7b	A	T	1: 46,139,875	T903S	probably benign	Het
Enthd1	T	C	15: 80,452,742	D497G	probably damaging	Het
Grk4	C	T	5: 34,710,186	T165I	probably benign	Het
Hmcn1	G	A	1: 150,722,607	S1648L	probably benign	Het
Ints11	A	G	4: 155,886,863	Y278C	probably damaging	Het
Kcnu1	T	C	8: 25,892,062	L480P	probably damaging	Het
Kif1bp	C	T	10: 62,578,349	R10H	probably benign	Het
Kif5c	G	A	2: 49,701,110		probably null	Het
Klhl35	T	C	7: 99,471,681		probably benign	Het
Lemd3	A	T	10: 120,926,028	D807E	possibly damaging	Het
Lrrc37a	G	A	11: 103,504,539	T20I	probably benign	Het
Mab21l1	C	T	3: 55,783,595	A201V	probably benign	Het
Mab21l2	T	C	3: 86,546,817	D292G	possibly damaging	Het
Map3k21	T	C	8: 125,942,147	L824P	probably benign	Het
Myo5a	T	C	9: 75,212,981	V1687A	probably benign	Het
Myo5c	G	T	9: 75,300,902	W1639C	probably damaging	Het
Nfya	G	T	17: 48,393,255		probably benign	Het
Olfr1249	A	G	2: 89,630,754	I48T	probably damaging	Het
Pcdh8	G	A	14: 79,769,246	R626C	probably damaging	Het
Pclo	T	C	5: 14,765,145		probably benign	Het
Pogz	T	C	3: 94,874,703		probably benign	Het
Polg	G	A	7: 79,458,167		probably benign	Het
Scn9a	A	T	2: 66,494,826	I1317K	probably damaging	Het
Scn9a	A	G	2: 66,547,135	V401A	probably damaging	Het
St7	T	A	6: 17,844,969		probably benign	Het
Tdo2	C	T	3: 81,958,925	V344M	probably damaging	Het
Trmt1	T	C	8: 84,697,471	V400A	probably damaging	Het
Trrap	A	G	5: 144,816,433	N1856S	probably benign	Het
Ube3a	G	A	7: 59,276,041	G210D	probably benign	Het
Ubqln5	A	G	7: 104,129,482	V45A	probably damaging	Het
Wdpcp	T	A	11: 21,711,958	M410K	possibly damaging	Het
Xpa	G	A	4: 46,185,606	T124M	probably damaging	Het
Zpbp2	A	G	11: 98,555,541	E172G	probably damaging	Het

Other mutations in Papolg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00987:Papolg	APN	11	23876377	missense	possibly damaging	0.93
IGL01016:Papolg	APN	11	23885570	missense	possibly damaging	0.58
IGL01394:Papolg	APN	11	23867235	missense	probably benign
IGL01710:Papolg	APN	11	23864026	missense	probably damaging	0.99
IGL01786:Papolg	APN	11	23874488	missense	probably damaging	1.00
IGL02008:Papolg	APN	11	23879898	missense	probably damaging	1.00
IGL02329:Papolg	APN	11	23891869	missense	probably damaging	0.98
IGL02535:Papolg	APN	11	23890245	missense	probably benign	0.00
IGL02588:Papolg	APN	11	23890252	missense	probably damaging	1.00
IGL03058:Papolg	APN	11	23895029	missense	probably benign	0.00
IGL03301:Papolg	APN	11	23874503	missense	probably benign	0.05
R0124:Papolg	UTSW	11	23867535	missense	probably benign	0.21
R0369:Papolg	UTSW	11	23872425	critical splice donor site	probably null
R0454:Papolg	UTSW	11	23879868	splice site	probably null
R0743:Papolg	UTSW	11	23870818	unclassified	probably null
R0931:Papolg	UTSW	11	23882257	missense	probably damaging	0.96
R1856:Papolg	UTSW	11	23867379	missense	probably benign	0.06
R1940:Papolg	UTSW	11	23867279	missense	probably benign	0.00
R2239:Papolg	UTSW	11	23876378	missense	probably damaging	0.99
R3802:Papolg	UTSW	11	23876449	missense	probably damaging	1.00
R4275:Papolg	UTSW	11	23868378	missense	probably benign
R4989:Papolg	UTSW	11	23873919	splice site	probably null
R5074:Papolg	UTSW	11	23867331	missense	possibly damaging	0.78
R5122:Papolg	UTSW	11	23867501	critical splice donor site	probably null
R6048:Papolg	UTSW	11	23891815	missense	probably benign	0.04
R6365:Papolg	UTSW	11	23882290	missense	probably damaging	1.00
R6577:Papolg	UTSW	11	23879857	critical splice donor site	probably benign
R7117:Papolg	UTSW	11	23895207	start gained	probably benign
R7283:Papolg	UTSW	11	23867394	missense	not run
R7372:Papolg	UTSW	11	23866439	missense	probably benign	0.16

Posted On

2015-04-16