Mutagenetix > Incidental Mutation

Incidental Mutation 'R4992:Polb'

386262

Institutional Source

Beutler Lab

Gene Symbol

Polb

Ensembl Gene

ENSMUSG00000031536

Gene Name

polymerase (DNA directed), beta

Synonyms

A430088C08Rik, Pol beta

MMRRC Submission

042586-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4992 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23118142-23143451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23135087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 115 (V115E)

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: V115E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536
AA Change: V115E

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

0.9077

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

98% (84/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	A	15: 81,948,203 (GRCm39)	R700Q	possibly damaging	Het
4930444P10Rik	T	A	1: 16,151,101 (GRCm39)	E27V	probably damaging	Het
Acsm4	T	A	7: 119,310,640 (GRCm39)	I509N	probably benign	Het
Asb18	T	C	1: 89,880,585 (GRCm39)	M143V	probably benign	Het
Birc6	A	G	17: 74,996,251 (GRCm39)	D4475G	probably benign	Het
Bsn	A	T	9: 107,992,747 (GRCm39)	S1002T	probably damaging	Het
Bub3	T	C	7: 131,162,535 (GRCm39)	S33P	probably damaging	Het
Ccna1	T	A	3: 54,957,311 (GRCm39)	R35S	probably damaging	Het
Cdc23	T	A	18: 34,779,972 (GRCm39)	M119L	probably benign	Het
Ces1a	A	G	8: 93,771,650 (GRCm39)	V49A	probably benign	Het
Chi3l1	A	T	1: 134,116,364 (GRCm39)	E282D	probably benign	Het
Crocc	G	A	4: 140,773,977 (GRCm39)	A220V	probably damaging	Het
Cstf1	A	G	2: 172,219,720 (GRCm39)	Y277C	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dennd5a	A	G	7: 109,493,919 (GRCm39)	S1262P	probably damaging	Het
Dnajb5	G	A	4: 42,953,386 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,357,064 (GRCm39)	K200R	unknown	Het
Ect2l	A	G	10: 18,048,477 (GRCm39)	F156S	probably benign	Het
Egf	T	C	3: 129,505,179 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Elmo3	T	A	8: 106,036,133 (GRCm39)	Y607*	probably null	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Ephb2	A	G	4: 136,388,150 (GRCm39)	V651A	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Gcn1	T	C	5: 115,737,225 (GRCm39)	V1321A	probably benign	Het
Gimd1	A	T	3: 132,340,718 (GRCm39)	Y78F	probably benign	Het
Glmn	T	G	5: 107,705,167 (GRCm39)	D483A	probably damaging	Het
Gsr	C	T	8: 34,183,941 (GRCm39)	T401I	probably damaging	Het
Htr3b	G	A	9: 48,870,518 (GRCm39)	H62Y	possibly damaging	Het
Ifna6	T	C	4: 88,745,777 (GRCm39)	V42A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Inpp4b	A	T	8: 82,759,837 (GRCm39)	R627S	probably damaging	Het
Kif13a	C	T	13: 46,930,639 (GRCm39)	V142M	probably damaging	Het
Lims1	A	C	10: 58,246,063 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,202,475 (GRCm39)	T1059A	possibly damaging	Het
Lyst	T	C	13: 13,835,748 (GRCm39)	L1810P	probably damaging	Het
Mboat1	T	G	13: 30,386,343 (GRCm39)	I119R	possibly damaging	Het
Mgat3	T	A	15: 80,096,743 (GRCm39)	D523E	probably benign	Het
Mphosph9	T	C	5: 124,442,253 (GRCm39)	E395G	probably damaging	Het
Mtcl1	G	T	17: 66,649,834 (GRCm39)	P1877Q	probably damaging	Het
Myo6	T	C	9: 80,190,792 (GRCm39)	V781A	possibly damaging	Het
Ncoa3	T	A	2: 165,911,859 (GRCm39)	M1395K	probably benign	Het
Nhlrc2	T	A	19: 56,558,966 (GRCm39)	D150E	probably benign	Het
Nlrp9a	T	C	7: 26,256,811 (GRCm39)	V54A	probably benign	Het
Or1e32	G	A	11: 73,705,146 (GRCm39)	T254I	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Parp14	A	T	16: 35,661,512 (GRCm39)	C1479S	probably benign	Het
Pdcd1lg2	T	C	19: 29,423,484 (GRCm39)	V176A	probably damaging	Het
Pibf1	T	A	14: 99,388,103 (GRCm39)	N416K	probably damaging	Het
Pip4p1	A	G	14: 51,166,690 (GRCm39)	V179A	probably damaging	Het
Polq	T	A	16: 36,881,524 (GRCm39)	N1229K	possibly damaging	Het
Ppp1r21	A	T	17: 88,876,508 (GRCm39)	D440V	probably benign	Het
Ppp2ca	T	A	11: 52,004,033 (GRCm39)	H63Q	possibly damaging	Het
Prl7a1	C	T	13: 27,819,669 (GRCm39)		probably null	Het
Rgs1	C	A	1: 144,122,060 (GRCm39)	K77N	probably damaging	Het
Rnf112	T	A	11: 61,343,537 (GRCm39)	I100F	possibly damaging	Het
Rnf139	G	T	15: 58,770,325 (GRCm39)	E117*	probably null	Het
Robo1	G	A	16: 72,776,756 (GRCm39)	V743I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Scarf1	T	C	11: 75,413,056 (GRCm39)	L434P	probably damaging	Het
Sgsm1	A	T	5: 113,430,486 (GRCm39)	S300T	possibly damaging	Het
Slc26a7	T	G	4: 14,565,508 (GRCm39)	T192P	probably damaging	Het
Smarcc2	A	G	10: 128,310,579 (GRCm39)	K403E	probably damaging	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Sptlc3	G	A	2: 139,437,923 (GRCm39)	V406I	probably benign	Het
Tgds	A	C	14: 118,355,175 (GRCm39)	Y197D	probably damaging	Het
Tll1	G	T	8: 64,546,978 (GRCm39)	R323S	probably damaging	Het
Trim14	A	G	4: 46,507,110 (GRCm39)	Y369H	probably damaging	Het
Ube2nl	C	T	7: 61,199,112 (GRCm39)		noncoding transcript	Het
Ube3a	T	A	7: 58,934,568 (GRCm39)	D560E	possibly damaging	Het
Vmn2r10	A	G	5: 109,145,592 (GRCm39)	V505A	possibly damaging	Het
Vmn2r114	T	G	17: 23,510,765 (GRCm39)	I572L	probably benign	Het
Vmn2r26	A	T	6: 124,003,070 (GRCm39)	Q160L	probably benign	Het
Vmn2r75	A	C	7: 85,815,375 (GRCm39)		probably null	Het
Vps8	A	G	16: 21,280,158 (GRCm39)	K336E	possibly damaging	Het
Zfp324	T	C	7: 12,703,300 (GRCm39)	S32P	probably benign	Het
Zfp366	T	C	13: 99,366,003 (GRCm39)	I388T	possibly damaging	Het
Zfp68	A	T	5: 138,605,599 (GRCm39)	N203K	possibly damaging	Het
Zhx2	A	T	15: 57,686,983 (GRCm39)	N784I	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
R2314:Polb	UTSW	8	23,130,018 (GRCm39)	missense	possibly damaging	0.69
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'- GCGGACCTTACTCTAGATCTG -3'
(R):5'- GGTTGTCCACCAATTGACTGAAG -3'

Sequencing Primer
(F):5'- GCTCTCTATGATGTAGTTGTGAAAAC -3'
(R):5'- AATGGGCATTAGCAAAGTTACCATGC -3'

Posted On

2016-05-10