Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Polk'

190478

Institutional Source

Beutler Lab

Gene Symbol

Polk

Ensembl Gene

ENSMUSG00000021668

Gene Name

polymerase (DNA directed), kappa

Synonyms

Dinb1

MMRRC Submission

039743-MU

Accession Numbers

Essential gene?

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

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96617198-96679087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 96625712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 364 (D364A)

Ref Sequence

ENSEMBL: ENSMUSP00000152647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000165358] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222389] [ENSMUST00000222143]

AlphaFold

Q9QUG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000022172
AA Change: D444A

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

SMART Domains

Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: D444A

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: D385A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: D385A

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: ENSMUST00000165358

Predicted Effect

probably benign
Transcript: ENSMUST00000220977
AA Change: D364A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000221645
AA Change: D444A

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221899
AA Change: D364A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222075

Predicted Effect

probably damaging
Transcript: ENSMUST00000222389
AA Change: D364A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222268

Predicted Effect

probably benign
Transcript: ENSMUST00000222143

Meta Mutation Damage Score

0.6504

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,601,134 (GRCm39)	S249R	possibly damaging	Het
Acadvl	T	A	11: 69,901,181 (GRCm39)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm39)	T264S	probably benign	Het
Acrv1	C	T	9: 36,605,551 (GRCm39)	Q33*	probably null	Het
Actrt3	T	A	3: 30,653,901 (GRCm39)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,331,168 (GRCm39)		probably benign	Het
Ank2	C	A	3: 126,726,709 (GRCm39)	E3712*	probably null	Het
Ano7	C	A	1: 93,313,346 (GRCm39)	H161Q	probably benign	Het
Arhgap10	C	A	8: 78,085,216 (GRCm39)	E451*	probably null	Het
Arhgap29	T	A	3: 121,801,729 (GRCm39)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 79,853,932 (GRCm39)	Q149*	probably null	Het
Asap2	C	T	12: 21,274,393 (GRCm39)	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,735,372 (GRCm39)	I480T	probably benign	Het
BC034090	T	C	1: 155,101,610 (GRCm39)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,491,450 (GRCm39)	D74V	probably damaging	Het
C4b	A	G	17: 34,962,638 (GRCm39)		probably benign	Het
Card11	T	A	5: 140,888,660 (GRCm39)	K233*	probably null	Het
Catip	T	G	1: 74,401,929 (GRCm39)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,648,647 (GRCm39)	G247R	probably damaging	Het
Cep97	T	A	16: 55,735,385 (GRCm39)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,659,370 (GRCm39)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,767,906 (GRCm39)	S194P	possibly damaging	Het
Degs1l	A	G	1: 180,878,884 (GRCm39)	M1V	probably null	Het
Dennd10	A	G	19: 60,806,021 (GRCm39)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,594,400 (GRCm39)	H97L	probably benign	Het
Dnah8	T	C	17: 31,073,914 (GRCm39)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,404,092 (GRCm39)		probably null	Het
Entpd1	A	T	19: 40,714,680 (GRCm39)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,957,059 (GRCm39)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,218,244 (GRCm39)	I130M	probably benign	Het
Etv1	T	C	12: 38,902,261 (GRCm39)	F264S	probably benign	Het
Fat1	T	C	8: 45,463,519 (GRCm39)	S1354P	probably benign	Het
Fat4	C	A	3: 39,005,304 (GRCm39)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,010,586 (GRCm39)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,795,356 (GRCm39)	F160L	possibly damaging	Het
Fyb2	T	A	4: 104,861,113 (GRCm39)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,245,663 (GRCm39)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,673,566 (GRCm39)	G52*	probably null	Het
Gm6401	G	T	14: 41,788,840 (GRCm39)	N76K	probably benign	Het
Gm6871	A	G	7: 41,195,901 (GRCm39)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,240,081 (GRCm39)	V301G	probably benign	Het
H2bw2	A	C	X: 135,828,216 (GRCm39)	D35A	unknown	Het
Hfm1	A	G	5: 107,028,380 (GRCm39)	F817L	probably damaging	Het
Hfm1	T	C	5: 107,043,869 (GRCm39)	E589G	probably damaging	Het
Hivep2	A	T	10: 14,005,249 (GRCm39)	K616*	probably null	Het
Hmcn1	A	T	1: 150,551,735 (GRCm39)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,082,565 (GRCm39)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,354,263 (GRCm39)		probably null	Het
Irx4	T	C	13: 73,415,757 (GRCm39)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm39)	S758P	probably damaging	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Lama1	A	G	17: 68,060,786 (GRCm39)	I705V	probably benign	Het
Mbd5	A	G	2: 49,147,044 (GRCm39)	N418S	probably benign	Het
Mmp21	C	T	7: 133,279,014 (GRCm39)	V279I	probably damaging	Het
Morc4	A	C	X: 138,755,279 (GRCm39)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,709,518 (GRCm39)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,313,831 (GRCm39)	D103G	probably damaging	Het
Ndrg4	A	G	8: 96,437,314 (GRCm39)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,035,522 (GRCm39)	V246A	possibly damaging	Het
Noa1	T	C	5: 77,457,572 (GRCm39)	E111G	possibly damaging	Het
Nod1	C	A	6: 54,921,044 (GRCm39)	V425F	probably damaging	Het
Nos1	A	T	5: 118,033,984 (GRCm39)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,400,170 (GRCm39)	H98Y	probably damaging	Het
Optn	G	A	2: 5,057,941 (GRCm39)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,344,318 (GRCm39)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,321,827 (GRCm39)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,581,504 (GRCm39)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,887,202 (GRCm39)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,169,867 (GRCm39)	I37V	probably benign	Het
Or9g19	C	T	2: 85,600,199 (GRCm39)	T18I	probably benign	Het
Oscar	C	T	7: 3,614,855 (GRCm39)	W22*	probably null	Het
Palmd	T	A	3: 116,717,306 (GRCm39)	Y397F	probably damaging	Het
Plk1	A	G	7: 121,768,121 (GRCm39)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,087,581 (GRCm39)	N183K	probably damaging	Het
Polr3d	T	C	14: 70,680,450 (GRCm39)	T36A	probably benign	Het
Ppp1r10	A	T	17: 36,237,428 (GRCm39)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,346,969 (GRCm39)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,102,234 (GRCm39)	L769P	probably damaging	Het
Psg26	A	G	7: 18,213,966 (GRCm39)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,375,997 (GRCm39)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,566,494 (GRCm39)		probably benign	Het
Reps1	A	T	10: 17,994,698 (GRCm39)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,276,018 (GRCm39)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,353 (GRCm39)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,937,865 (GRCm39)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,340 (GRCm39)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,311,556 (GRCm39)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,498,699 (GRCm39)	V67I	probably benign	Het
Skp1	T	A	11: 52,133,442 (GRCm39)	D42E	probably benign	Het
Slc22a4	A	T	11: 53,918,801 (GRCm39)	M1K	probably null	Het
Slc2a9	T	A	5: 38,539,387 (GRCm39)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,665,075 (GRCm39)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,657,717 (GRCm39)	N60S	probably damaging	Het
Slx4	A	C	16: 3,817,022 (GRCm39)	D66E	probably benign	Het
Smg8	A	T	11: 86,977,113 (GRCm39)	I156N	probably damaging	Het
Snx25	A	T	8: 46,569,244 (GRCm39)	C218S	possibly damaging	Het
Sulf2	T	C	2: 165,920,992 (GRCm39)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,674,888 (GRCm39)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,445,918 (GRCm39)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,324,433 (GRCm39)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,200,304 (GRCm39)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,334,343 (GRCm39)	I618N	probably damaging	Het
Ttc7b	A	T	12: 100,369,667 (GRCm39)	D367E	probably damaging	Het
Txlnb	A	G	10: 17,719,203 (GRCm39)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,934,895 (GRCm39)		probably null	Het
Vmn2r124	A	T	17: 18,282,187 (GRCm39)		probably benign	Het
Vmn2r2	T	C	3: 64,024,820 (GRCm39)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Vps13c	T	A	9: 67,818,811 (GRCm39)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,489,719 (GRCm39)	A495V	probably benign	Het
Vwa3a	A	T	7: 120,403,254 (GRCm39)		probably null	Het
Zfhx2	C	A	14: 55,303,455 (GRCm39)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,611,389 (GRCm39)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,108,510 (GRCm39)	I867T	probably benign	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
R0687:Polk	UTSW	13	96,620,525 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCCATTTCAATGTCACGAATTGCC -3'
(R):5'- AGGGAGGTCCCAGTTCACAATCAG -3'

Sequencing Primer
(F):5'- GGAGTGACCTTGTCACAGATCTC -3'
(R):5'- cagggctacaaagggagac -3'

Posted On

2014-05-14