Mutagenetix > Incidental Mutation

Incidental Mutation 'R1789:Polk'

201656

Institutional Source

Beutler Lab

Gene Symbol

Polk

Ensembl Gene

ENSMUSG00000021668

Gene Name

polymerase (DNA directed), kappa

Synonyms

Dinb1

MMRRC Submission

039820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R1789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96480690-96542579 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96496632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 301 (E301G)

Ref Sequence

ENSEMBL: ENSMUSP00000022172 (fasta)

Gene Model

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

AlphaFold

Q9QUG2

PDB Structure

Solution structure of the mouse Rev1 CTD in complex with the Rev1-interacting Region (RIR)of Pol Kappa [SOLUTION NMR]
Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022172
AA Change: E301G

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

SMART Domains

Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: E301G

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 benign
Transcript: ENSMUST00000091387

SMART Domains

Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668

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

possibly damaging
Transcript: ENSMUST00000221645
AA Change: E301G

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000221899

Predicted Effect

probably benign
Transcript: ENSMUST00000222075

Predicted Effect

probably benign
Transcript: ENSMUST00000222143

Predicted Effect

probably benign
Transcript: ENSMUST00000222389

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.1%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,365,951 (GRCm38)	P986L	probably damaging	Het
Acad10	A	T	5: 121,631,393 (GRCm38)	Y667N	possibly damaging	Het
Ahi1	G	A	10: 20,963,115 (GRCm38)	G121D	probably benign	Het
Ampd1	T	A	3: 103,099,126 (GRCm38)	I690N	possibly damaging	Het
Amy1	C	A	3: 113,558,165 (GRCm38)	W425L	possibly damaging	Het
Arhgap27	A	T	11: 103,333,005 (GRCm38)	V823E	probably damaging	Het
Arhgef17	A	G	7: 100,929,870 (GRCm38)	S624P	probably damaging	Het
Arid5b	T	C	10: 68,186,067 (GRCm38)	H231R	probably damaging	Het
Aspscr1	C	A	11: 120,688,560 (GRCm38)	T78N	probably damaging	Het
Auts2	T	A	5: 131,472,450 (GRCm38)	T42S	probably damaging	Het
Ccdc171	A	G	4: 83,554,808 (GRCm38)	D158G	probably damaging	Het
Ces4a	G	A	8: 105,138,097 (GRCm38)	G69S	probably damaging	Het
Cfap61	T	C	2: 145,939,993 (GRCm38)		probably null	Het
Chrna5	T	C	9: 55,004,651 (GRCm38)	V245A	possibly damaging	Het
Cntnap5c	G	A	17: 58,013,921 (GRCm38)	G163R	probably damaging	Het
Col5a2	A	G	1: 45,378,305 (GRCm38)		probably null	Het
Col5a2	T	C	1: 45,394,776 (GRCm38)	Q759R	probably damaging	Het
Comp	A	G	8: 70,377,146 (GRCm38)	D340G	probably benign	Het
Cyfip1	T	A	7: 55,926,395 (GRCm38)	D1104E	probably damaging	Het
Dnah11	A	T	12: 118,038,780 (GRCm38)	S308T	probably damaging	Het
Dnah5	A	G	15: 28,270,426 (GRCm38)	H958R	probably benign	Het
Elp3	A	G	14: 65,547,919 (GRCm38)	Y478H	probably damaging	Het
Fat3	T	C	9: 16,376,985 (GRCm38)	Y414C	probably benign	Het
Fbxo10	C	A	4: 45,046,389 (GRCm38)	A574S	probably damaging	Het
Fsip2	G	T	2: 82,977,562 (GRCm38)	L1408F	probably benign	Het
Fubp3	T	C	2: 31,611,735 (GRCm38)	V425A	possibly damaging	Het
Gm7168	A	T	17: 13,949,584 (GRCm38)	R404S	probably benign	Het
Gm8773	A	T	5: 5,575,652 (GRCm38)	Q116L	possibly damaging	Het
Gpd1	T	G	15: 99,723,202 (GRCm38)	F299C	probably damaging	Het
Gpr137	C	T	19: 6,942,057 (GRCm38)		probably benign	Het
Grin3b	T	C	10: 79,973,408 (GRCm38)	S331P	probably benign	Het
Grk3	T	A	5: 112,941,718 (GRCm38)	I281F	probably damaging	Het
Hoxb7	T	A	11: 96,286,781 (GRCm38)	S18R	probably damaging	Het
Igf1r	C	T	7: 68,214,933 (GRCm38)	R1160*	probably null	Het
Itfg1	A	G	8: 85,725,512 (GRCm38)		probably null	Het
Itgb8	T	C	12: 119,202,455 (GRCm38)	I114V	probably benign	Het
Kcnk1	A	G	8: 126,025,384 (GRCm38)	E243G	possibly damaging	Het
Kif27	A	G	13: 58,344,008 (GRCm38)	L439P	probably damaging	Het
Kif2c	T	A	4: 117,167,361 (GRCm38)	Q279L	probably benign	Het
Kmt2d	A	T	15: 98,852,074 (GRCm38)		probably benign	Het
L3mbtl1	A	G	2: 162,974,502 (GRCm38)	T821A	probably benign	Het
Lrrc24	A	T	15: 76,722,578 (GRCm38)	M206K	probably benign	Het
Mamdc4	T	G	2: 25,567,622 (GRCm38)	K460Q	possibly damaging	Het
Maml2	C	G	9: 13,697,345 (GRCm38)	L30V	probably damaging	Het
Mc5r	C	G	18: 68,338,670 (GRCm38)		probably null	Het
Myo10	T	G	15: 25,726,525 (GRCm38)		probably null	Het
Myo1e	T	A	9: 70,338,784 (GRCm38)	L419Q	probably damaging	Het
Myo6	C	A	9: 80,300,572 (GRCm38)	H1115Q	probably damaging	Het
Myo7a	A	G	7: 98,107,095 (GRCm38)	V10A	probably damaging	Het
Myoz2	C	T	3: 123,026,127 (GRCm38)	R61H	probably damaging	Het
Ncdn	G	A	4: 126,752,003 (GRCm38)	R38C	probably damaging	Het
Nckap1	T	A	2: 80,520,556 (GRCm38)	T736S	probably benign	Het
Ncor2	G	A	5: 125,019,890 (GRCm38)	A2325V	probably damaging	Het
Nid2	T	A	14: 19,752,431 (GRCm38)	V140E	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,490 (GRCm38)	D704Y	probably benign	Het
Notch3	T	A	17: 32,158,725 (GRCm38)	S126C	probably damaging	Het
Olfr1128	A	T	2: 87,544,983 (GRCm38)	L187H	probably damaging	Het
Olfr130	T	C	17: 38,067,948 (GRCm38)	I259T	probably damaging	Het
Olfr215	A	C	6: 116,582,697 (GRCm38)	F83C	probably damaging	Het
Olfr484	A	G	7: 108,124,915 (GRCm38)	F116S	probably benign	Het
Olfr804	T	C	10: 129,705,607 (GRCm38)	M243T	possibly damaging	Het
Olfr818	A	T	10: 129,945,582 (GRCm38)	L160*	probably null	Het
Pdzd7	A	G	19: 45,039,228 (GRCm38)	I269T	probably damaging	Het
Phf3	A	T	1: 30,806,206 (GRCm38)	D1299E	probably damaging	Het
Pitx2	T	A	3: 129,218,754 (GRCm38)	Y271N	probably damaging	Het
Prkdc	C	A	16: 15,739,524 (GRCm38)	N2230K	probably damaging	Het
Prlr	A	G	15: 10,322,536 (GRCm38)	E170G	probably benign	Het
Prss55	A	G	14: 64,075,730 (GRCm38)	I235T	probably damaging	Het
Psd3	T	C	8: 67,960,565 (GRCm38)	I724V	probably benign	Het
Rabep2	A	G	7: 126,438,799 (GRCm38)	T248A	possibly damaging	Het
Rbm26	T	A	14: 105,117,073 (GRCm38)	K949N	probably benign	Het
Rnf213	T	A	11: 119,440,221 (GRCm38)	D2085E	probably damaging	Het
Serpinb7	A	T	1: 107,450,273 (GRCm38)	H232L	possibly damaging	Het
Slu7	A	G	11: 43,445,242 (GRCm38)	Q484R	probably benign	Het
Smg1	A	G	7: 118,145,798 (GRCm38)	S3044P	possibly damaging	Het
Snrnp48	A	G	13: 38,221,360 (GRCm38)	D248G	possibly damaging	Het
Snrpc	C	A	17: 27,845,219 (GRCm38)	P66Q	unknown	Het
Snrpn	T	A	7: 59,983,459 (GRCm38)		probably benign	Het
Spag17	T	A	3: 99,939,356 (GRCm38)	S65R	possibly damaging	Het
Srsf6	C	A	2: 162,934,488 (GRCm38)		probably benign	Het
Stil	T	A	4: 115,041,782 (GRCm38)	M1203K	probably benign	Het
Syt17	T	C	7: 118,436,838 (GRCm38)	T106A	probably benign	Het
Tbx15	C	T	3: 99,352,246 (GRCm38)	Q478*	probably null	Het
Tg	A	T	15: 66,737,548 (GRCm38)	Q319L	probably benign	Het
Thada	A	G	17: 84,448,033 (GRCm38)	L243P	probably damaging	Het
Thada	G	T	17: 84,448,034 (GRCm38)	L243I	probably damaging	Het
Tnnt3	A	G	7: 142,512,364 (GRCm38)	R211G	probably damaging	Het
Togaram1	A	T	12: 65,002,635 (GRCm38)	Q1282L	possibly damaging	Het
Tpm3-rs7	T	G	14: 113,314,947 (GRCm38)	M91R	probably damaging	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Ttll7	T	G	3: 146,915,780 (GRCm38)	L378R	probably damaging	Het
Tyw1	T	G	5: 130,258,993 (GRCm38)	I22R	probably damaging	Het
Ubr3	T	C	2: 70,016,367 (GRCm38)	S1645P	possibly damaging	Het
Ubr4	T	C	4: 139,393,053 (GRCm38)	L263P	probably damaging	Het
Unc13c	T	C	9: 73,756,339 (GRCm38)	E1071G	possibly damaging	Het
Vmn2r44	G	T	7: 8,380,123 (GRCm38)	D157E	possibly damaging	Het
Vps16	C	T	2: 130,443,600 (GRCm38)	T821I	probably benign	Het
Washc4	T	C	10: 83,579,525 (GRCm38)	V793A	possibly damaging	Het
Wdr35	G	T	12: 8,977,435 (GRCm38)		probably null	Het
Zfp277	A	G	12: 40,364,085 (GRCm38)	F254L	probably benign	Het

Other mutations in Polk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Polk	APN	13	96,496,760 (GRCm38)	missense	probably benign	0.25
IGL01803:Polk	APN	13	96,504,522 (GRCm38)	missense	probably damaging	1.00
IGL01949:Polk	APN	13	96,483,538 (GRCm38)	missense	probably benign	0.10
IGL01986:Polk	APN	13	96,483,823 (GRCm38)	missense	probably benign	0.09
IGL02073:Polk	APN	13	96,504,551 (GRCm38)	missense	probably damaging	1.00
IGL03165:Polk	APN	13	96,516,688 (GRCm38)	missense	probably benign	0.23
IGL03184:Polk	APN	13	96,483,983 (GRCm38)	missense	probably benign	0.04
IGL03353:Polk	APN	13	96,489,211 (GRCm38)	missense	probably damaging	1.00
R0019:Polk	UTSW	13	96,504,616 (GRCm38)	missense	probably damaging	1.00
R0029:Polk	UTSW	13	96,516,670 (GRCm38)	missense	probably damaging	1.00
R0200:Polk	UTSW	13	96,496,822 (GRCm38)	missense	probably benign	0.11
R0357:Polk	UTSW	13	96,504,597 (GRCm38)	missense	probably damaging	0.99
R0485:Polk	UTSW	13	96,483,764 (GRCm38)	missense	probably benign	0.05
R0555:Polk	UTSW	13	96,484,179 (GRCm38)	missense	probably damaging	0.97
R0687:Polk	UTSW	13	96,484,017 (GRCm38)	missense	probably damaging	1.00
R0980:Polk	UTSW	13	96,483,764 (GRCm38)	missense	probably benign	0.05
R1065:Polk	UTSW	13	96,508,252 (GRCm38)	missense	probably damaging	1.00
R1396:Polk	UTSW	13	96,484,208 (GRCm38)	missense	probably benign	0.02
R1710:Polk	UTSW	13	96,489,204 (GRCm38)	missense	probably damaging	1.00
R1770:Polk	UTSW	13	96,495,442 (GRCm38)	missense	probably damaging	1.00
R1977:Polk	UTSW	13	96,489,228 (GRCm38)	missense	probably damaging	1.00
R2301:Polk	UTSW	13	96,484,144 (GRCm38)	missense	probably benign	0.09
R3797:Polk	UTSW	13	96,486,982 (GRCm38)	splice site	probably benign
R3934:Polk	UTSW	13	96,501,635 (GRCm38)	missense	possibly damaging	0.56
R4082:Polk	UTSW	13	96,483,673 (GRCm38)	missense	probably benign	0.17
R4307:Polk	UTSW	13	96,496,666 (GRCm38)	missense	possibly damaging	0.79
R4472:Polk	UTSW	13	96,493,905 (GRCm38)	missense	probably damaging	1.00
R4779:Polk	UTSW	13	96,496,491 (GRCm38)	critical splice donor site	probably null
R4795:Polk	UTSW	13	96,489,256 (GRCm38)	missense	probably benign	0.01
R4796:Polk	UTSW	13	96,489,256 (GRCm38)	missense	probably benign	0.01
R4810:Polk	UTSW	13	96,483,495 (GRCm38)	missense	possibly damaging	0.90
R5002:Polk	UTSW	13	96,489,244 (GRCm38)	missense	probably damaging	1.00
R5271:Polk	UTSW	13	96,483,539 (GRCm38)	missense	probably benign	0.09
R5415:Polk	UTSW	13	96,483,955 (GRCm38)	missense	probably benign
R5459:Polk	UTSW	13	96,495,476 (GRCm38)	missense	probably damaging	1.00
R5535:Polk	UTSW	13	96,495,497 (GRCm38)	missense	probably damaging	1.00
R5619:Polk	UTSW	13	96,483,556 (GRCm38)	missense	probably damaging	1.00
R5757:Polk	UTSW	13	96,484,252 (GRCm38)	missense	probably benign	0.03
R5801:Polk	UTSW	13	96,483,586 (GRCm38)	missense	probably damaging	1.00
R5923:Polk	UTSW	13	96,495,415 (GRCm38)	missense	probably damaging	1.00
R6365:Polk	UTSW	13	96,484,009 (GRCm38)	missense	probably damaging	1.00
R6670:Polk	UTSW	13	96,496,630 (GRCm38)	nonsense	probably null
R6831:Polk	UTSW	13	96,495,491 (GRCm38)	missense	possibly damaging	0.87
R6932:Polk	UTSW	13	96,516,681 (GRCm38)	missense	probably damaging	1.00
R7216:Polk	UTSW	13	96,508,220 (GRCm38)	missense	probably benign	0.32
R7654:Polk	UTSW	13	96,496,813 (GRCm38)	missense	probably benign	0.02
R8122:Polk	UTSW	13	96,483,783 (GRCm38)	missense	probably benign	0.01
R8222:Polk	UTSW	13	96,495,515 (GRCm38)	missense	possibly damaging	0.95
R9024:Polk	UTSW	13	96,486,832 (GRCm38)	missense	probably benign	0.00
R9500:Polk	UTSW	13	96,493,841 (GRCm38)	missense	probably damaging	0.99
R9789:Polk	UTSW	13	96,493,895 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGACCTGTGATAGCTTTTGTGC -3'
(R):5'- TGTTTGTGATCCAGACACACC -3'

Sequencing Primer
(F):5'- GCTTGATTACAGCTTACCTGGAG -3'
(R):5'- ACTGAGTATGAGCGGTCCATCTC -3'

Posted On

2014-06-23