Mutagenetix > Incidental Mutation

Incidental Mutation 'R8546:Poll'

659663

Institutional Source

Beutler Lab

Gene Symbol

Poll

Ensembl Gene

ENSMUSG00000025218

Gene Name

polymerase (DNA directed), lambda

Synonyms

1110003P06Rik

MMRRC Submission

068511-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45540714-45548970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45546416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 208 (D208V)

Ref Sequence

ENSEMBL: ENSMUSP00000026239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026239] [ENSMUST00000047057]

AlphaFold

Q9QXE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026239
AA Change: D208V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: D208V

Domain	Start	End	E-Value	Type
PDB:2JW5\|A	35	134	4e-35	PDB
Blast:BRCT	39	121	5e-32	BLAST
low complexity region	220	233	N/A	INTRINSIC
POLXc	249	572	2.71e-79	SMART
HhH1	295	314	3.11e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047057

SMART Domains

Protein: ENSMUSP00000045683
Gene: ENSMUSG00000041035

Domain	Start	End	E-Value	Type
Pfam:DPCD	6	195	4.5e-92	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective heavy chain rearrangement. See also the Dpcd gene for mutations that affect both of these overlapping genes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,064,139 (GRCm39)	S416P	probably benign	Het
Adcy9	G	T	16: 4,236,769 (GRCm39)	A214E	probably benign	Het
Atp11a	T	A	8: 12,901,083 (GRCm39)	W971R	probably damaging	Het
Axl	C	T	7: 25,473,588 (GRCm39)	R346H	probably benign	Het
Bltp3b	A	G	10: 89,630,397 (GRCm39)	N399S	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cabin1	T	C	10: 75,578,101 (GRCm39)	D532G	probably damaging	Het
Cdh20	A	G	1: 104,861,769 (GRCm39)		probably benign	Het
Cfap97d1	A	G	11: 101,881,687 (GRCm39)	R77G	probably damaging	Het
Clca3b	T	A	3: 144,533,158 (GRCm39)	S625C	probably damaging	Het
Col3a1	G	A	1: 45,380,099 (GRCm39)		probably benign	Het
Ctu2	T	C	8: 123,206,102 (GRCm39)	L281P	probably damaging	Het
Cyb5a	G	A	18: 84,889,759 (GRCm39)		probably null	Het
Cyb5rl	T	A	4: 106,925,923 (GRCm39)	V35D	probably damaging	Het
Dnah17	A	G	11: 118,015,101 (GRCm39)	F381S	probably benign	Het
Eif3a	A	T	19: 60,755,208 (GRCm39)	N991K	unknown	Het
Eif6	A	G	2: 155,668,420 (GRCm39)		probably benign	Het
Fahd1	T	C	17: 25,069,057 (GRCm39)	M7V	possibly damaging	Het
Fam171b	A	G	2: 83,685,795 (GRCm39)	T160A	probably damaging	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Fras1	G	A	5: 96,857,825 (GRCm39)	V2040I	probably benign	Het
Gjc2	G	T	11: 59,067,182 (GRCm39)	D433E	unknown	Het
H2bc13	G	A	13: 21,900,042 (GRCm39)	T91M	probably damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irx6	A	T	8: 93,405,264 (GRCm39)	R377S	probably benign	Het
Khnyn	A	G	14: 56,123,275 (GRCm39)	T10A	probably benign	Het
Kmt2e	A	T	5: 23,686,242 (GRCm39)	H389L	probably damaging	Het
Lin7c	A	G	2: 109,726,716 (GRCm39)	I122V	probably null	Het
Lonp1	G	A	17: 56,933,702 (GRCm39)	P58S	probably benign	Het
Loxl4	T	C	19: 42,596,027 (GRCm39)	H142R	probably benign	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Mettl2	T	A	11: 105,022,399 (GRCm39)	N196K	probably benign	Het
Myo7b	T	C	18: 32,123,201 (GRCm39)	E712G	probably benign	Het
Ncam2	C	T	16: 81,314,419 (GRCm39)	T465I	probably benign	Het
Or7e169	T	A	9: 19,757,685 (GRCm39)	T77S	probably damaging	Het
Padi4	T	C	4: 140,484,841 (GRCm39)	E340G	probably damaging	Het
Patj	T	A	4: 98,325,634 (GRCm39)	S490R	probably benign	Het
Pkd1l3	G	A	8: 110,393,615 (GRCm39)	S1981N	possibly damaging	Het
Polr3f	A	G	2: 144,374,284 (GRCm39)	D64G	probably damaging	Het
Prkdc	A	G	16: 15,480,899 (GRCm39)	Y340C	probably damaging	Het
Prmt6	C	T	3: 110,158,034 (GRCm39)	R85Q	possibly damaging	Het
Rgl3	T	C	9: 21,899,156 (GRCm39)	K140R	probably benign	Het
Rhoj	A	G	12: 75,422,124 (GRCm39)	T61A	probably benign	Het
Skor1	T	C	9: 63,049,570 (GRCm39)	D795G	probably damaging	Het
Slc28a2b	A	T	2: 122,353,235 (GRCm39)	M472L	probably benign	Het
Tekt5	A	G	16: 10,175,877 (GRCm39)	V556A	probably benign	Het
Tlr1	T	A	5: 65,084,374 (GRCm39)	I68F	probably damaging	Het
Tnni3k	G	T	3: 154,498,444 (GRCm39)	N798K	probably benign	Het
Tuft1	T	A	3: 94,529,420 (GRCm39)	E227D	probably benign	Het
Tulp1	T	C	17: 28,582,710 (GRCm39)	K146R	probably benign	Het
Usp24	G	A	4: 106,259,326 (GRCm39)	A1616T	probably benign	Het
Ythdc1	A	T	5: 86,974,607 (GRCm39)	K452N	possibly damaging	Het
Zscan4-ps3	T	A	7: 11,346,697 (GRCm39)	H244Q	possibly damaging	Het

Other mutations in Poll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Poll	APN	19	45,542,040 (GRCm39)	missense	probably damaging	0.99
IGL01369:Poll	APN	19	45,542,115 (GRCm39)	missense	probably damaging	1.00
R0308:Poll	UTSW	19	45,544,404 (GRCm39)	missense	probably damaging	1.00
R0374:Poll	UTSW	19	45,546,309 (GRCm39)	missense	probably benign	0.21
R2090:Poll	UTSW	19	45,547,277 (GRCm39)	missense	probably benign	0.24
R3721:Poll	UTSW	19	45,542,016 (GRCm39)	missense	probably damaging	0.99
R3938:Poll	UTSW	19	45,546,857 (GRCm39)	unclassified	probably benign
R4171:Poll	UTSW	19	45,544,492 (GRCm39)	missense	probably damaging	1.00
R4626:Poll	UTSW	19	45,543,563 (GRCm39)	missense	probably benign	0.02
R5990:Poll	UTSW	19	45,541,594 (GRCm39)	missense	possibly damaging	0.91
R6090:Poll	UTSW	19	45,544,436 (GRCm39)	missense	probably benign
R6433:Poll	UTSW	19	45,542,043 (GRCm39)	missense	probably benign	0.00
R7023:Poll	UTSW	19	45,547,277 (GRCm39)	missense	probably benign
R7436:Poll	UTSW	19	45,541,496 (GRCm39)	missense	probably damaging	1.00
R8221:Poll	UTSW	19	45,542,047 (GRCm39)	missense	probably damaging	0.99
R9083:Poll	UTSW	19	45,546,317 (GRCm39)	missense	probably benign	0.01
R9203:Poll	UTSW	19	45,542,091 (GRCm39)	missense	probably benign	0.00
R9288:Poll	UTSW	19	45,547,281 (GRCm39)	missense	probably benign	0.03
R9314:Poll	UTSW	19	45,547,091 (GRCm39)	missense	probably benign
R9547:Poll	UTSW	19	45,546,359 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTTTAGCCAGCACTTCCAGC -3'
(R):5'- CCTGGAGGTTAGACAGAAAATTCTAG -3'

Sequencing Primer
(F):5'- CCAGCTTCTCTGTGATGTGCAG -3'
(R):5'- AGACAGAAAATTCTAGGTCTCTCTC -3'

Posted On

2021-01-18