Mutagenetix > Incidental Mutation

Incidental Mutation 'R2314:Polb'

245413

Institutional Source

Beutler Lab

Gene Symbol

Polb

Ensembl Gene

ENSMUSG00000031536

Gene Name

polymerase (DNA directed), beta

Synonyms

A430088C08Rik, Pol beta

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2314 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23118142-23143451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23130018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 185 (A185S)

Ref Sequence

ENSEMBL: ENSMUSP00000033938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033938] [ENSMUST00000210950]

AlphaFold

Q8K409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033938
AA Change: A185S

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: A185S

Domain	Start	End	E-Value	Type
POLXc	10	334	4.58e-159	SMART
HhH1	57	76	1.91e-1	SMART
HhH1	98	117	1.14e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181668

Predicted Effect

probably benign
Transcript: ENSMUST00000210950

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for one knock-out allele die from E10.5 to birth and those for another one exhibit embryonic growth retardation, abnormal neurogenesis, and neonatal lethality due to respiratory failure. Hypomorphic allele mice develop systemic lupus erythematosus-like phentoypes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,322 (GRCm39)	S39P	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Anxa6	T	A	11: 54,902,561 (GRCm39)	I58F	probably damaging	Het
Ccdc30	T	A	4: 119,181,763 (GRCm39)	K582*	probably null	Het
Cebpz	A	G	17: 79,227,976 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,427,676 (GRCm39)	D473V	probably benign	Het
Cry1	A	T	10: 84,969,175 (GRCm39)	C550S	probably benign	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dolk	G	T	2: 30,175,497 (GRCm39)	L183M	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Drd4	T	C	7: 140,873,854 (GRCm39)	Y140H	probably damaging	Het
Duox1	C	A	2: 122,164,211 (GRCm39)	C890*	probably null	Het
Epha2	T	A	4: 141,046,325 (GRCm39)	V508E	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fahd1	A	T	17: 25,068,570 (GRCm39)	I169N	probably damaging	Het
Fgfr1	C	T	8: 26,060,909 (GRCm39)	S527F	probably damaging	Het
Flywch1	A	G	17: 23,982,000 (GRCm39)	V68A	probably benign	Het
Gm21834	A	T	17: 58,049,210 (GRCm39)	V2E	possibly damaging	Het
Gm7853	A	T	14: 35,811,621 (GRCm39)		noncoding transcript	Het
Igf2r	T	A	17: 12,934,830 (GRCm39)	H713L	probably benign	Het
Iqgap3	T	C	3: 88,023,338 (GRCm39)	V543A	probably benign	Het
Kcnq5	T	A	1: 21,549,595 (GRCm39)		probably null	Het
Lsm1	C	T	8: 26,275,712 (GRCm39)	P5S	possibly damaging	Het
Marchf1	T	C	8: 66,574,442 (GRCm39)	M1T	probably null	Het
Myocd	T	C	11: 65,091,633 (GRCm39)	H103R	probably damaging	Het
Myom2	C	T	8: 15,113,927 (GRCm39)	T25I	probably damaging	Het
Nck1	T	C	9: 100,380,003 (GRCm39)	K83E	probably damaging	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Onecut2	G	T	18: 64,474,268 (GRCm39)	R254L	probably damaging	Het
Or51k1	T	A	7: 103,661,436 (GRCm39)	M158L	probably benign	Het
Plxna1	A	C	6: 89,301,298 (GRCm39)	L1534R	probably damaging	Het
Pou3f3	T	C	1: 42,737,651 (GRCm39)	V449A	probably damaging	Het
Pskh1	C	T	8: 106,640,145 (GRCm39)	T275I	probably damaging	Het
Rab18	C	A	18: 6,788,516 (GRCm39)	A161D	probably damaging	Het
Rrp8	T	C	7: 105,384,011 (GRCm39)	R164G	probably benign	Het
Sacs	T	A	14: 61,445,208 (GRCm39)	I2418K	probably benign	Het
Scrn1	T	C	6: 54,502,631 (GRCm39)	E136G	probably benign	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Slitrk6	C	T	14: 110,989,387 (GRCm39)	A107T	probably damaging	Het
Spata31e2	T	C	1: 26,723,783 (GRCm39)	S466G	probably benign	Het
Tktl2	T	A	8: 66,965,795 (GRCm39)	F451Y	probably damaging	Het
Tnks1bp1	G	A	2: 84,889,259 (GRCm39)	V529M	probably benign	Het
Trps1	T	C	15: 50,524,742 (GRCm39)	K874E	probably damaging	Het
Ttll9	T	A	2: 152,825,047 (GRCm39)	D75E	probably benign	Het
Ttn	A	G	2: 76,596,368 (GRCm39)	Y20182H	probably damaging	Het
Ufc1	A	T	1: 171,116,821 (GRCm39)	C116S	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp809	A	G	9: 22,149,976 (GRCm39)	K158E	possibly damaging	Het
Zfp81	A	G	17: 33,553,597 (GRCm39)	Y406H	probably damaging	Het

Other mutations in Polb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01455:Polb	APN	8	23,143,088 (GRCm39)	missense	probably damaging	1.00
IGL02421:Polb	APN	8	23,130,389 (GRCm39)	missense	probably damaging	1.00
IGL02618:Polb	APN	8	23,127,109 (GRCm39)	missense	probably damaging	1.00
IGL02850:Polb	APN	8	23,138,277 (GRCm39)	splice site	probably benign
IGL03143:Polb	APN	8	23,130,367 (GRCm39)	splice site	probably benign
IGL02796:Polb	UTSW	8	23,121,474 (GRCm39)	missense	probably damaging	1.00
R0280:Polb	UTSW	8	23,130,408 (GRCm39)	missense	probably damaging	0.99
R0383:Polb	UTSW	8	23,130,011 (GRCm39)	nonsense	probably null
R0788:Polb	UTSW	8	23,132,354 (GRCm39)	missense	probably null
R1374:Polb	UTSW	8	23,143,073 (GRCm39)	splice site	probably benign
R1564:Polb	UTSW	8	23,120,357 (GRCm39)	critical splice donor site	probably null
R2194:Polb	UTSW	8	23,137,483 (GRCm39)	missense	probably benign	0.05
R2295:Polb	UTSW	8	23,143,335 (GRCm39)	missense	probably damaging	1.00
R4992:Polb	UTSW	8	23,135,087 (GRCm39)	missense	probably damaging	0.97
R5107:Polb	UTSW	8	23,135,062 (GRCm39)	splice site	probably null
R5474:Polb	UTSW	8	23,120,386 (GRCm39)	missense	probably benign	0.13
R5905:Polb	UTSW	8	23,130,011 (GRCm39)	nonsense	probably null
R5908:Polb	UTSW	8	23,132,319 (GRCm39)	critical splice donor site	probably null
R6028:Polb	UTSW	8	23,130,011 (GRCm39)	nonsense	probably null
R6188:Polb	UTSW	8	23,137,463 (GRCm39)	missense	probably damaging	0.99
R7304:Polb	UTSW	8	23,129,975 (GRCm39)	missense	probably benign
R7644:Polb	UTSW	8	23,130,443 (GRCm39)	missense	probably benign	0.02
R7766:Polb	UTSW	8	23,143,107 (GRCm39)	missense	probably benign	0.23
R8964:Polb	UTSW	8	23,143,341 (GRCm39)	missense	probably damaging	0.96
R9249:Polb	UTSW	8	23,143,084 (GRCm39)	missense	probably benign	0.10
R9681:Polb	UTSW	8	23,118,346 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTTGCAGCAATACTCTGTGTG -3'
(R):5'- GTCTCTGTCATTGCACCTGAG -3'

Sequencing Primer
(F):5'- ATGAGGCCCTGAGTTCAATC -3'
(R):5'- CCTGAGTGATTAGACAGACAATGG -3'

Posted On

2014-10-30