Mutagenetix > Incidental Mutation

Incidental Mutation 'R0788:Polb'

76351

Institutional Source

Beutler Lab

Gene Symbol

Polb

Ensembl Gene

ENSMUSG00000031536

Gene Name

polymerase (DNA directed), beta

Synonyms

A430088C08Rik, Pol beta

MMRRC Submission

038968-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23118142-23143451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23132354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 130 (D130G)

Ref Sequence

ENSEMBL: ENSMUSP00000033938 (fasta)

Gene Model

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

AlphaFold

Q8K409

Predicted Effect

probably null
Transcript: ENSMUST00000033938
AA Change: D130G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: D130G

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

0.0899

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.0%

Validation Efficiency

98% (53/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,610,468 (GRCm39)	Y380*	probably null	Het
4931406B18Rik	C	A	7: 43,148,623 (GRCm39)	S196I	probably damaging	Het
Ablim2	T	C	5: 36,015,245 (GRCm39)	S519P	probably benign	Het
Adnp2	A	C	18: 80,173,219 (GRCm39)	C397G	probably benign	Het
Aldh1l2	A	G	10: 83,352,028 (GRCm39)	S156P	probably damaging	Het
Bcl2l15	G	T	3: 103,740,794 (GRCm39)		probably null	Het
Brd9	T	A	13: 74,092,986 (GRCm39)		probably benign	Het
Cars2	A	C	8: 11,579,672 (GRCm39)	I262R	possibly damaging	Het
Ccdc106	T	C	7: 5,060,533 (GRCm39)		probably benign	Het
Cdh3	G	A	8: 107,268,047 (GRCm39)	V361M	probably benign	Het
Cdhr1	A	C	14: 36,809,332 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,225,468 (GRCm39)	I559T	possibly damaging	Het
Cdkn2aip	T	A	8: 48,166,798 (GRCm39)	Q3L	possibly damaging	Het
Chd1	G	T	17: 15,927,376 (GRCm39)	V10F	possibly damaging	Het
Col4a4	G	A	1: 82,502,717 (GRCm39)	P356S	unknown	Het
Col6a4	T	C	9: 105,949,197 (GRCm39)	K813E	probably benign	Het
Cttnbp2	G	A	6: 18,423,834 (GRCm39)	T830I	probably damaging	Het
Cyp2t4	A	G	7: 26,854,588 (GRCm39)	M23V	probably null	Het
Cyp3a16	T	C	5: 145,401,886 (GRCm39)	K59E	probably benign	Het
Dpysl5	G	A	5: 30,946,185 (GRCm39)		probably null	Het
E130308A19Rik	T	A	4: 59,719,847 (GRCm39)	Y460N	possibly damaging	Het
Ear6	T	A	14: 52,091,487 (GRCm39)	C11*	probably null	Het
Fat1	C	T	8: 45,477,020 (GRCm39)	T1999M	probably benign	Het
Gsdmd	T	A	15: 75,736,103 (GRCm39)	C77*	probably null	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Kif28	A	T	1: 179,532,788 (GRCm39)		probably benign	Het
Krt6b	A	G	15: 101,585,954 (GRCm39)	I373T	probably damaging	Het
Lgr5	T	C	10: 115,288,902 (GRCm39)	T509A	probably damaging	Het
Mapkbp1	C	T	2: 119,854,482 (GRCm39)	P1354S	probably benign	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncoa2	T	C	1: 13,237,113 (GRCm39)		probably benign	Het
Necap1	C	T	6: 122,858,495 (GRCm39)	R113W	probably damaging	Het
Or1l4	T	A	2: 37,092,035 (GRCm39)	Y261N	possibly damaging	Het
Orc4	A	T	2: 48,827,479 (GRCm39)	V38E	possibly damaging	Het
Per1	G	A	11: 68,992,185 (GRCm39)		probably benign	Het
Ppcs	T	C	4: 119,279,375 (GRCm39)	N59S	probably damaging	Het
Ppp2ca	A	G	11: 52,003,969 (GRCm39)	E42G	possibly damaging	Het
Ptprf	T	C	4: 118,083,663 (GRCm39)	T807A	probably damaging	Het
Rapgef2	A	C	3: 79,006,502 (GRCm39)	F284V	possibly damaging	Het
Sestd1	A	T	2: 77,022,060 (GRCm39)	F544I	probably damaging	Het
Slfn3	G	A	11: 83,103,662 (GRCm39)	G178S	possibly damaging	Het
Supt6	G	A	11: 78,098,598 (GRCm39)		probably benign	Het
Tas2r109	T	A	6: 132,957,264 (GRCm39)	Q222L	probably benign	Het
Tekt4	A	C	17: 25,691,021 (GRCm39)	D109A	probably damaging	Het
Tob2	C	A	15: 81,735,903 (GRCm39)	R22L	probably damaging	Het
Ttn	T	G	2: 76,653,282 (GRCm39)	E178D	possibly damaging	Het
Ube2u	C	A	4: 100,371,937 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,332,812 (GRCm39)		probably benign	Het
Vstm2a	T	C	11: 16,209,968 (GRCm39)	F65L	probably damaging	Het
Zfp57	A	G	17: 37,317,092 (GRCm39)		probably benign	Het
Znrf3	G	T	11: 5,231,320 (GRCm39)	P731Q	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
R0280:Polb	UTSW	8	23,130,408 (GRCm39)	missense	probably damaging	0.99
R0383:Polb	UTSW	8	23,130,011 (GRCm39)	nonsense	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'- TCTGCACCAAGCTCAGCATTTCTG -3'
(R):5'- ACAAGCTGTGACTTCTATTGCTGCC -3'

Sequencing Primer
(F):5'- tgtatctgaaagagagtaaggatgg -3'
(R):5'- TATCTCTAGCCAGTAAGAGTGCC -3'

Posted On

2013-10-16