Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03301:Papolg'

416217

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 #

IGL03301

Quality Score

Status

Chromosome

Chromosomal Location

23862646-23895253 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23874503 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 293 (N293S)

Ref Sequence

ENSEMBL: ENSMUSP00000020513 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020513
AA Change: N293S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: N293S

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
AA Change: N293S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273
AA Change: N293S

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 89,707,404	E418G	probably damaging	Het
Arl14	T	C	3: 69,222,943	F141S	probably damaging	Het
C1s1	A	T	6: 124,541,324		probably benign	Het
Cilp	T	C	9: 65,280,217	V1198A	probably benign	Het
Cnbd1	A	T	4: 19,055,039	I129K	probably benign	Het
Ctdp1	G	A	18: 80,449,634	Q549*	probably null	Het
Cyp2ab1	T	A	16: 20,313,799	I250F	possibly damaging	Het
Dmd	G	A	X: 83,908,514	R1765Q	probably damaging	Het
Dnah1	C	T	14: 31,292,692	G1739R	probably damaging	Het
Eml6	T	C	11: 29,764,083	K1350E	probably benign	Het
Ephx4	C	A	5: 107,426,864	T256K	probably benign	Het
Fnd3c2	G	T	X: 106,252,263	Q49K	probably benign	Het
Heatr1	G	T	13: 12,434,205	G1889W	probably damaging	Het
Igkv19-93	A	T	6: 68,736,481	W55R	probably damaging	Het
Jak1	T	C	4: 101,175,173	Y412C	probably damaging	Het
Moxd1	A	T	10: 24,279,484	N261I	probably damaging	Het
Mrgpra1	T	C	7: 47,335,416	N172D	probably benign	Het
Piezo2	A	G	18: 63,027,704	S2294P	probably damaging	Het
Ppp3cb	A	T	14: 20,523,984	V262D	probably damaging	Het
Rhox7a	A	G	X: 37,840,011	T235A	probably benign	Het
Saal1	A	G	7: 46,702,520		probably benign	Het
Scrn1	G	A	6: 54,548,337	R16*	probably null	Het
Slc22a2	A	G	17: 12,606,039	R263G	probably damaging	Het
Speer3	T	A	5: 13,795,433	L160H	probably damaging	Het
Tmcc2	T	C	1: 132,360,819	M377V	possibly damaging	Het
Tsen2	T	G	6: 115,568,771	Y341D	probably damaging	Het
Vmn2r13	A	T	5: 109,158,089	V541D	probably damaging	Het
Vmn2r15	A	G	5: 109,297,355		probably null	Het
Zfp711	T	C	X: 112,633,401	Y710H	probably damaging	Het
Zmiz2	C	T	11: 6,401,170	T566M	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
IGL02127:Papolg	APN	11	23870870	unclassified	probably benign
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
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

2016-08-02