Mutagenetix > Incidental Mutation

Incidental Mutation 'R0280:Polb'

37459

Institutional Source

Beutler Lab

Gene Symbol

Polb

Ensembl Gene

ENSMUSG00000031536

Gene Name

polymerase (DNA directed), beta

Synonyms

A430088C08Rik, Pol beta

MMRRC Submission

038502-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0280 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

23118142-23143451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23130408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 173 (Y173N)

Ref Sequence

ENSEMBL: ENSMUSP00000033938 (fasta)

Gene Model

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

AlphaFold

Q8K409

Predicted Effect

probably damaging
Transcript: ENSMUST00000033938
AA Change: Y173N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: Y173N

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

Meta Mutation Damage Score

0.4141

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adam18	C	T	8: 25,164,070 (GRCm39)	G38R	probably benign	Het
Ankrd16	T	G	2: 11,786,312 (GRCm39)	V187G	probably damaging	Het
Ccdc110	A	T	8: 46,396,487 (GRCm39)	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,508,663 (GRCm39)	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,093,172 (GRCm39)	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crocc	T	C	4: 140,755,737 (GRCm39)	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,321,616 (GRCm39)	V494E	probably damaging	Het
Drg1	A	T	11: 3,206,537 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,840,206 (GRCm39)	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Esr1	A	G	10: 4,806,951 (GRCm39)	D289G	probably benign	Het
Esr1	G	T	10: 4,889,289 (GRCm39)	V396F	probably damaging	Het
Evi5l	T	C	8: 4,243,133 (GRCm39)	V339A	probably damaging	Het
Fat4	A	T	3: 38,944,965 (GRCm39)	Q1286L	probably benign	Het
Fcsk	A	T	8: 111,621,380 (GRCm39)	V188D	probably damaging	Het
Frem1	T	C	4: 82,887,681 (GRCm39)	H1118R	probably damaging	Het
Fut9	C	T	4: 25,619,852 (GRCm39)	D321N	probably benign	Het
Gaa	T	G	11: 119,175,373 (GRCm39)	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,583,839 (GRCm39)		probably null	Het
Kidins220	A	G	12: 25,060,140 (GRCm39)	T767A	probably damaging	Het
Kif7	A	G	7: 79,348,571 (GRCm39)	S1257P	probably benign	Het
Ltn1	A	G	16: 87,194,726 (GRCm39)	L1391P	probably damaging	Het
Mast3	A	G	8: 71,240,564 (GRCm39)	V291A	possibly damaging	Het
Mast3	A	G	8: 71,236,439 (GRCm39)	Y681H	probably damaging	Het
Metrn	C	T	17: 26,014,109 (GRCm39)	R239H	probably benign	Het
Mphosph10	C	A	7: 64,026,451 (GRCm39)	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,449,857 (GRCm39)	T433I	probably benign	Het
Mtmr2	A	G	9: 13,710,545 (GRCm39)	K365E	probably damaging	Het
Nanog	A	G	6: 122,690,357 (GRCm39)	D229G	probably damaging	Het
Nkapd1	T	C	9: 50,520,679 (GRCm39)	T123A	probably damaging	Het
Npepps	T	C	11: 97,131,840 (GRCm39)	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,636,393 (GRCm39)		probably benign	Het
Odad4	A	T	11: 100,441,091 (GRCm39)	K107N	probably damaging	Het
Or4g16	T	C	2: 111,137,417 (GRCm39)	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,914,062 (GRCm39)	E357G	probably damaging	Het
R3hdm1	T	A	1: 128,090,512 (GRCm39)	S74T	probably benign	Het
Raet1d	T	A	10: 22,246,782 (GRCm39)	C37S	probably damaging	Het
Reln	G	A	5: 22,432,511 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,541,197 (GRCm39)	S369G	probably damaging	Het
Sgf29	A	G	7: 126,270,743 (GRCm39)	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,863,361 (GRCm39)	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,874,187 (GRCm39)	L188*	probably null	Het
Slc9a3	T	A	13: 74,307,543 (GRCm39)	I445N	probably damaging	Het
Sufu	A	T	19: 46,439,112 (GRCm39)		probably benign	Het
Tomm40	G	A	7: 19,447,676 (GRCm39)	T118I	probably damaging	Het
Ttn	C	T	2: 76,570,823 (GRCm39)	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,488,005 (GRCm39)	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 84,882,457 (GRCm39)		probably benign	Het
Vmn2r68	C	G	7: 84,882,466 (GRCm39)		probably null	Het
Vsig8	A	G	1: 172,389,105 (GRCm39)	D119G	probably benign	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
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
R2314:Polb	UTSW	8	23,130,018 (GRCm39)	missense	possibly damaging	0.69
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'- ACTCAGGTGCAATGACAGAGACAAC -3'
(R):5'- AGCACATCAGAGCCTTCTTCCGTG -3'

Sequencing Primer
(F):5'- TGGGATAAACATGCCCAAGC -3'
(R):5'- CCAGGTGCTTTGATCTATAAACC -3'

Posted On

2013-05-23