Mutagenetix > Incidental Mutation

Incidental Mutation 'R0687:Polk'

61202

Institutional Source

Beutler Lab

Gene Symbol

Polk

Ensembl Gene

ENSMUSG00000021668

Gene Name

polymerase (DNA directed), kappa

Synonyms

Dinb1

MMRRC Submission

038872-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

R0687 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

96617198-96679087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96620525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 579 (N579K)

Ref Sequence

ENSEMBL: ENSMUSP00000088950 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222143] [ENSMUST00000222389]

AlphaFold

Q9QUG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022172
AA Change: N638K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: N638K

Domain	Start	End	E-Value	Type
Pfam:IMS	105	324	1.7e-47	PFAM
Pfam:IMS_C	406	525	5.5e-22	PFAM
PDB:2LSJ\|B	559	582	9e-8	PDB
ZnF_Rad18	619	645	2.89e-9	SMART
ZnF_Rad18	761	787	2.31e-8	SMART
low complexity region	828	839	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091387
AA Change: N579K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: N579K

Domain	Start	End	E-Value	Type
Pfam:IMS	105	265	1.1e-37	PFAM
Pfam:IMS_C	346	469	8.8e-19	PFAM
PDB:2LSJ\|B	500	523	9e-8	PDB
ZnF_Rad18	560	586	2.89e-9	SMART
ZnF_Rad18	702	728	2.31e-8	SMART
low complexity region	769	780	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220977

Predicted Effect

probably benign
Transcript: ENSMUST00000221645

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221899
AA Change: N558K

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000222075

Predicted Effect

probably benign
Transcript: ENSMUST00000222143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222268

Predicted Effect

probably benign
Transcript: ENSMUST00000222389

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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 DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene that results in a truncated transcript results in a higher rate of spontaneous germline expanded simple tandem repeat mutations. Homozyogus null mice exhibit normal immunoglobulin gene somatic hypermutation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa10	T	A	8: 62,545,606 (GRCm39)	D42V	possibly damaging	Het
B3gnt9	T	A	8: 105,981,415 (GRCm39)		probably benign	Het
Ccdc150	A	T	1: 54,324,790 (GRCm39)		probably null	Het
Fstl5	A	G	3: 76,615,119 (GRCm39)	I727V	possibly damaging	Het
Garre1	T	G	7: 33,944,843 (GRCm39)	Q679P	possibly damaging	Het
Mtrex	T	C	13: 113,050,895 (GRCm39)	T227A	probably damaging	Het
Nae1	C	A	8: 105,239,876 (GRCm39)	R484L	probably damaging	Het
Nudt19	T	A	7: 35,250,897 (GRCm39)	T281S	probably benign	Het
Osgin1	T	A	8: 120,172,571 (GRCm39)	V455E	probably damaging	Het
Pcnx3	A	T	19: 5,734,361 (GRCm39)	D655E	probably damaging	Het
Plch1	C	T	3: 63,623,450 (GRCm39)	V617M	probably damaging	Het
Scube2	C	A	7: 109,428,335 (GRCm39)	V513F	possibly damaging	Het
Spen	T	C	4: 141,215,339 (GRCm39)	M498V	unknown	Het
Tm7sf3	T	A	6: 146,523,388 (GRCm39)	N163I	possibly damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Usp24	A	T	4: 106,277,701 (GRCm39)	K2277I	probably damaging	Het

Other mutations in Polk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Polk	APN	13	96,633,268 (GRCm39)	missense	probably benign	0.25
IGL01803:Polk	APN	13	96,641,030 (GRCm39)	missense	probably damaging	1.00
IGL01949:Polk	APN	13	96,620,046 (GRCm39)	missense	probably benign	0.10
IGL01986:Polk	APN	13	96,620,331 (GRCm39)	missense	probably benign	0.09
IGL02073:Polk	APN	13	96,641,059 (GRCm39)	missense	probably damaging	1.00
IGL03165:Polk	APN	13	96,653,196 (GRCm39)	missense	probably benign	0.23
IGL03184:Polk	APN	13	96,620,491 (GRCm39)	missense	probably benign	0.04
IGL03353:Polk	APN	13	96,625,719 (GRCm39)	missense	probably damaging	1.00
R0019:Polk	UTSW	13	96,641,124 (GRCm39)	missense	probably damaging	1.00
R0029:Polk	UTSW	13	96,653,178 (GRCm39)	missense	probably damaging	1.00
R0200:Polk	UTSW	13	96,633,330 (GRCm39)	missense	probably benign	0.11
R0357:Polk	UTSW	13	96,641,105 (GRCm39)	missense	probably damaging	0.99
R0485:Polk	UTSW	13	96,620,272 (GRCm39)	missense	probably benign	0.05
R0555:Polk	UTSW	13	96,620,687 (GRCm39)	missense	probably damaging	0.97
R0980:Polk	UTSW	13	96,620,272 (GRCm39)	missense	probably benign	0.05
R1065:Polk	UTSW	13	96,644,760 (GRCm39)	missense	probably damaging	1.00
R1396:Polk	UTSW	13	96,620,716 (GRCm39)	missense	probably benign	0.02
R1710:Polk	UTSW	13	96,625,712 (GRCm39)	missense	probably damaging	1.00
R1770:Polk	UTSW	13	96,631,950 (GRCm39)	missense	probably damaging	1.00
R1789:Polk	UTSW	13	96,633,140 (GRCm39)	missense	probably damaging	1.00
R1977:Polk	UTSW	13	96,625,736 (GRCm39)	missense	probably damaging	1.00
R2301:Polk	UTSW	13	96,620,652 (GRCm39)	missense	probably benign	0.09
R3797:Polk	UTSW	13	96,623,490 (GRCm39)	splice site	probably benign
R3934:Polk	UTSW	13	96,638,143 (GRCm39)	missense	possibly damaging	0.56
R4082:Polk	UTSW	13	96,620,181 (GRCm39)	missense	probably benign	0.17
R4307:Polk	UTSW	13	96,633,174 (GRCm39)	missense	possibly damaging	0.79
R4472:Polk	UTSW	13	96,630,413 (GRCm39)	missense	probably damaging	1.00
R4779:Polk	UTSW	13	96,632,999 (GRCm39)	critical splice donor site	probably null
R4795:Polk	UTSW	13	96,625,764 (GRCm39)	missense	probably benign	0.01
R4796:Polk	UTSW	13	96,625,764 (GRCm39)	missense	probably benign	0.01
R4810:Polk	UTSW	13	96,620,003 (GRCm39)	missense	possibly damaging	0.90
R5002:Polk	UTSW	13	96,625,752 (GRCm39)	missense	probably damaging	1.00
R5271:Polk	UTSW	13	96,620,047 (GRCm39)	missense	probably benign	0.09
R5415:Polk	UTSW	13	96,620,463 (GRCm39)	missense	probably benign
R5459:Polk	UTSW	13	96,631,984 (GRCm39)	missense	probably damaging	1.00
R5535:Polk	UTSW	13	96,632,005 (GRCm39)	missense	probably damaging	1.00
R5619:Polk	UTSW	13	96,620,064 (GRCm39)	missense	probably damaging	1.00
R5757:Polk	UTSW	13	96,620,760 (GRCm39)	missense	probably benign	0.03
R5801:Polk	UTSW	13	96,620,094 (GRCm39)	missense	probably damaging	1.00
R5923:Polk	UTSW	13	96,631,923 (GRCm39)	missense	probably damaging	1.00
R6365:Polk	UTSW	13	96,620,517 (GRCm39)	missense	probably damaging	1.00
R6670:Polk	UTSW	13	96,633,138 (GRCm39)	nonsense	probably null
R6831:Polk	UTSW	13	96,631,999 (GRCm39)	missense	possibly damaging	0.87
R6932:Polk	UTSW	13	96,653,189 (GRCm39)	missense	probably damaging	1.00
R7216:Polk	UTSW	13	96,644,728 (GRCm39)	missense	probably benign	0.32
R7654:Polk	UTSW	13	96,633,321 (GRCm39)	missense	probably benign	0.02
R8122:Polk	UTSW	13	96,620,291 (GRCm39)	missense	probably benign	0.01
R8222:Polk	UTSW	13	96,632,023 (GRCm39)	missense	possibly damaging	0.95
R9024:Polk	UTSW	13	96,623,340 (GRCm39)	missense	probably benign	0.00
R9500:Polk	UTSW	13	96,630,349 (GRCm39)	missense	probably damaging	0.99
R9789:Polk	UTSW	13	96,630,403 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTGGACAGAGTCTTGCCTAC -3'
(R):5'- ACTGCGGGTCAGCAAGCTTTAC -3'

Sequencing Primer
(F):5'- GGACAGAGTCTTGCCTACTTAATG -3'
(R):5'- GCAAGCTTTACAGATCTTGGAACC -3'

Posted On

2013-07-30