Mutagenetix > Incidental Mutation

Incidental Mutation 'R7023:Poll'

545815

Institutional Source

Beutler Lab

Gene Symbol

Poll

Ensembl Gene

ENSMUSG00000025218

Gene Name

polymerase (DNA directed), lambda

Synonyms

1110003P06Rik

MMRRC Submission

045124-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7023 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

45540714-45548970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45547277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 65 (I65T)

Ref Sequence

ENSEMBL: ENSMUSP00000026239 (fasta)

Gene Model

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

AlphaFold

Q9QXE2

Predicted Effect

probably benign
Transcript: ENSMUST00000026239
AA Change: I65T

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

SMART Domains

Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: I65T

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: 98.9%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	A	G	13: 119,610,443 (GRCm39)	H372R	probably benign	Het
4933405O20Rik	T	C	7: 50,250,001 (GRCm39)	I345T	probably damaging	Het
4933427D14Rik	A	G	11: 72,069,229 (GRCm39)		probably null	Het
6430548M08Rik	T	C	8: 120,872,096 (GRCm39)	V8A	probably damaging	Het
Adam2	A	T	14: 66,280,505 (GRCm39)	D501E	probably benign	Het
Agbl3	T	C	6: 34,791,704 (GRCm39)	V602A	probably benign	Het
Akap12	T	C	10: 4,306,895 (GRCm39)	M1235T	probably benign	Het
Arid5a	G	A	1: 36,356,631 (GRCm39)		probably benign	Het
Asxl1	T	A	2: 153,242,469 (GRCm39)	D1006E	probably benign	Het
AY074887	T	C	9: 54,858,149 (GRCm39)		probably benign	Het
Btbd9	T	A	17: 30,746,546 (GRCm39)	R93S	probably benign	Het
Cabp2	A	T	19: 4,132,658 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,601,439 (GRCm39)	D76G	probably null	Het
Cd177	A	G	7: 24,459,187 (GRCm39)	I74T	probably benign	Het
Chchd1	G	A	14: 20,753,310 (GRCm39)		probably benign	Het
Col28a1	T	C	6: 8,083,763 (GRCm39)	R565G	possibly damaging	Het
Cpvl	T	A	6: 53,944,797 (GRCm39)	I80F	probably benign	Het
Csgalnact1	T	C	8: 68,811,081 (GRCm39)	T530A	probably benign	Het
Cybrd1	A	G	2: 70,968,922 (GRCm39)	D265G	probably benign	Het
Cyp2c69	A	T	19: 39,865,986 (GRCm39)	N202K	probably benign	Het
D1Pas1	A	G	1: 186,700,205 (GRCm39)	N45D	probably damaging	Het
Dclre1a	A	G	19: 56,528,638 (GRCm39)	V839A	probably damaging	Het
Degs1	A	T	1: 182,106,630 (GRCm39)	Y210N	probably damaging	Het
Doc2g	A	G	19: 4,054,778 (GRCm39)	S220G	probably benign	Het
Epb41l2	T	A	10: 25,388,875 (GRCm39)	L885Q	probably damaging	Het
Fabp1	A	T	6: 71,180,069 (GRCm39)		probably null	Het
Fat2	G	A	11: 55,201,328 (GRCm39)	S582L	probably benign	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Fras1	A	G	5: 96,857,943 (GRCm39)	N2079S	probably benign	Het
Gdf6	T	C	4: 9,860,210 (GRCm39)	Y431H	probably damaging	Het
Gfra1	A	T	19: 58,442,764 (GRCm39)	L6Q	probably damaging	Het
Gm45861	T	G	8: 28,071,034 (GRCm39)	S1305A	unknown	Het
Gse1	T	C	8: 120,957,387 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,705,485 (GRCm39)	H1303R	possibly damaging	Het
Lck	T	C	4: 129,442,658 (GRCm39)	D499G	possibly damaging	Het
Lepr	A	T	4: 101,646,484 (GRCm39)	Y805F	probably damaging	Het
Lin7a	A	T	10: 107,218,489 (GRCm39)	Y11F	possibly damaging	Het
Lrrc43	A	G	5: 123,641,826 (GRCm39)	K559E	probably damaging	Het
Megf6	T	C	4: 154,338,602 (GRCm39)	L467P	possibly damaging	Het
Mprip	G	A	11: 59,628,215 (GRCm39)	G221R	probably damaging	Het
Myo5c	T	C	9: 75,208,738 (GRCm39)	V1683A	probably damaging	Het
Nbeal2	G	A	9: 110,467,686 (GRCm39)	R501W	probably damaging	Het
Ncf1	G	T	5: 134,254,116 (GRCm39)	A219E	possibly damaging	Het
Nckap1l	T	C	15: 103,384,493 (GRCm39)	I616T	probably benign	Het
Nlrp2	A	T	7: 5,331,228 (GRCm39)	C389*	probably null	Het
Nrg3	T	C	14: 38,098,333 (GRCm39)	E507G	probably damaging	Het
Or4p19	A	G	2: 88,242,759 (GRCm39)	L81P	probably damaging	Het
P4ha2	A	T	11: 54,022,072 (GRCm39)	T532S	probably benign	Het
Pappa	A	T	4: 65,269,955 (GRCm39)	H1623L	probably benign	Het
Paqr6	A	G	3: 88,273,353 (GRCm39)	Y115C	probably damaging	Het
Pcolce2	A	T	9: 95,560,521 (GRCm39)	Q190L	probably benign	Het
Prmt9	T	C	8: 78,276,086 (GRCm39)		probably benign	Het
Prpf39	T	C	12: 65,100,074 (GRCm39)	V130A	possibly damaging	Het
Prpf6	A	G	2: 181,262,433 (GRCm39)	D144G	probably damaging	Het
Rgs6	T	A	12: 83,138,878 (GRCm39)		probably benign	Het
Rimbp2	A	G	5: 128,879,847 (GRCm39)		probably null	Het
Ripor2	A	G	13: 24,855,829 (GRCm39)	T90A	probably benign	Het
Rnf150	T	C	8: 83,590,706 (GRCm39)	F23S	probably damaging	Het
Rpp40	G	A	13: 36,082,889 (GRCm39)	R200W	possibly damaging	Het
Rtp3	G	A	9: 110,815,714 (GRCm39)	S217L	probably benign	Het
Sacs	A	C	14: 61,446,264 (GRCm39)	K2770T	probably benign	Het
Scn10a	A	T	9: 119,442,610 (GRCm39)	I1545N	probably damaging	Het
Scn2b	G	T	9: 45,037,438 (GRCm39)	V162L	probably damaging	Het
Sema6d	A	G	2: 124,506,831 (GRCm39)	T880A	probably damaging	Het
Slc36a4	A	G	9: 15,630,929 (GRCm39)	D16G	probably benign	Het
Slc4a8	T	A	15: 100,689,524 (GRCm39)	I378K	probably benign	Het
Smco2	T	A	6: 146,760,354 (GRCm39)	L70*	probably null	Het
Sptb	C	T	12: 76,671,862 (GRCm39)	V364I	probably damaging	Het
Susd4	A	G	1: 182,592,613 (GRCm39)	H3R	probably damaging	Het
Tbc1d16	T	C	11: 119,049,617 (GRCm39)	Q293R	probably damaging	Het
Tnfsf9	T	A	17: 57,414,317 (GRCm39)	M248K	possibly damaging	Het
Toporsl	A	G	4: 52,611,211 (GRCm39)	N368S	possibly damaging	Het
Trip11	T	C	12: 101,852,126 (GRCm39)	E361G	probably benign	Het
Trrap	T	A	5: 144,728,964 (GRCm39)	M626K	possibly damaging	Het
Ttn	A	T	2: 76,773,218 (GRCm39)	S2395T	probably damaging	Het
Ubqln3	T	C	7: 103,790,630 (GRCm39)	R487G	probably damaging	Het
Vdac1	A	G	11: 52,265,193 (GRCm39)	Y22C	probably damaging	Het
Vmn1r59	C	T	7: 5,457,477 (GRCm39)	M94I	probably benign	Het
Vmn2r10	G	T	5: 109,149,894 (GRCm39)	D383E	probably damaging	Het
Vmn2r115	T	C	17: 23,578,785 (GRCm39)	Y753H	probably damaging	Het
Vmn2r97	G	T	17: 19,134,663 (GRCm39)	C27F	probably damaging	Het
Wasf1	T	A	10: 40,812,471 (GRCm39)	V420E	unknown	Het
Zfp94	A	T	7: 24,002,821 (GRCm39)	L201Q	probably damaging	Het
Zgpat	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	2: 181,007,811 (GRCm39)		probably benign	Het
Zmym4	C	A	4: 126,762,593 (GRCm39)	R1410L	probably 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
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
R8546:Poll	UTSW	19	45,546,416 (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'- GCTGAATCCTTCCGTGTCTG -3'
(R):5'- GGCTTCGAACAGTTCATTATAGCTC -3'

Sequencing Primer
(F):5'- GAATCCTTCCGTGTCTGTCAGC -3'
(R):5'- CTACATAGTCAGTTTGAGGCCAGC -3'

Posted On

2019-05-13