Mutagenetix > Incidental Mutation

Incidental Mutation 'R4626:Poll'

348816

Institutional Source

Beutler Lab

Gene Symbol

Poll

Ensembl Gene

ENSMUSG00000025218

Gene Name

polymerase (DNA directed), lambda

Synonyms

1110003P06Rik

MMRRC Submission

041891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45540714-45548970 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45543563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 385 (M385I)

Ref Sequence

ENSEMBL: ENSMUSP00000026239 (fasta)

Gene Model

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

AlphaFold

Q9QXE2

Predicted Effect

probably benign
Transcript: ENSMUST00000026239
AA Change: M385I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: M385I

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatf	A	C	11: 84,313,784 (GRCm39)	*527G	probably null	Het
Abca17	A	T	17: 24,540,058 (GRCm39)	I390N	probably damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd49	A	C	9: 14,693,936 (GRCm39)	L77R	probably damaging	Het
Ap3b1	T	A	13: 94,540,586 (GRCm39)	N169K	possibly damaging	Het
Arhgap39	A	C	15: 76,621,837 (GRCm39)	F255V	possibly damaging	Het
Atp1a3	T	A	7: 24,698,193 (GRCm39)	N171I	possibly damaging	Het
Atp9a	T	C	2: 168,481,863 (GRCm39)	D953G	probably damaging	Het
Atxn1	T	C	13: 45,720,575 (GRCm39)	Y440C	probably damaging	Het
Bccip	T	C	7: 133,322,457 (GRCm39)	Y268H	possibly damaging	Het
Brms1l	C	A	12: 55,909,958 (GRCm39)	P243T	probably benign	Het
Btbd10	T	C	7: 112,927,605 (GRCm39)	E250G	probably damaging	Het
Cacna1e	T	C	1: 154,358,294 (GRCm39)		probably null	Het
Cfhr2	A	T	1: 139,741,314 (GRCm39)	N220K	probably damaging	Het
Csnk1g2	C	A	10: 80,475,648 (GRCm39)	A405E	probably damaging	Het
D5Ertd579e	T	C	5: 36,771,903 (GRCm39)	I831V	possibly damaging	Het
F2	T	A	2: 91,461,015 (GRCm39)	N239I	probably benign	Het
Fbln5	T	A	12: 101,727,086 (GRCm39)	D301V	probably damaging	Het
Fbn2	A	T	18: 58,146,819 (GRCm39)	C2692*	probably null	Het
Fhdc1	C	T	3: 84,381,557 (GRCm39)	D34N	probably damaging	Het
Galnt13	T	A	2: 54,747,878 (GRCm39)	M253K	probably damaging	Het
Gpc6	C	A	14: 118,202,255 (GRCm39)	Y488*	probably null	Het
Grm5	G	T	7: 87,779,361 (GRCm39)	G934C	probably damaging	Het
Gys1	T	C	7: 45,088,958 (GRCm39)	L119S	probably damaging	Het
H2-T15	CTGGGTG	CTG	17: 36,368,788 (GRCm39)		probably null	Het
Htra4	T	C	8: 25,527,130 (GRCm39)	N222D	probably benign	Het
Iba57	A	G	11: 59,049,287 (GRCm39)	V294A	probably benign	Het
Kctd21	A	G	7: 96,996,782 (GRCm39)	D85G	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Lama5	G	A	2: 179,826,253 (GRCm39)	T2330M	probably damaging	Het
Lrguk	G	A	6: 34,106,158 (GRCm39)	E728K	probably benign	Het
Mcm6	T	C	1: 128,279,285 (GRCm39)	D167G	probably benign	Het
Mettl18	T	A	1: 163,824,045 (GRCm39)	V122E	probably damaging	Het
Mindy2	G	A	9: 70,534,063 (GRCm39)	S378L	probably damaging	Het
Mis18bp1	G	T	12: 65,187,540 (GRCm39)	F854L	probably damaging	Het
Mtdh	C	T	15: 34,114,980 (GRCm39)	R106*	probably null	Het
Nup214	T	A	2: 31,923,416 (GRCm39)	V1315E	possibly damaging	Het
Nup58	A	G	14: 60,476,004 (GRCm39)	V271A	probably benign	Het
Or1j1	A	G	2: 36,702,271 (GRCm39)	Y278H	probably damaging	Het
Or4c101	T	C	2: 88,390,176 (GRCm39)	V121A	possibly damaging	Het
Or6f2	T	C	7: 139,756,359 (GRCm39)	S109P	probably damaging	Het
Orc5	G	T	5: 22,753,003 (GRCm39)	F10L	probably benign	Het
Pcdha11	A	T	18: 37,140,051 (GRCm39)	N560I	probably damaging	Het
Pcdhb9	T	A	18: 37,535,302 (GRCm39)	F432Y	probably benign	Het
Peg10	GGATCC	GGATCCCCATCAAGATCC	6: 4,756,460 (GRCm39)		probably benign	Het
Pomt1	A	G	2: 32,144,424 (GRCm39)	K737E	possibly damaging	Het
Prr16	C	T	18: 51,435,911 (GRCm39)	T130I	probably damaging	Het
Ptpn18	A	G	1: 34,510,873 (GRCm39)		probably null	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Scn10a	A	G	9: 119,460,571 (GRCm39)	I1101T	possibly damaging	Het
Slc22a22	T	C	15: 57,126,734 (GRCm39)	T93A	probably damaging	Het
Snx10	A	G	6: 51,565,270 (GRCm39)	D129G	probably damaging	Het
Stub1	A	G	17: 26,050,845 (GRCm39)		probably null	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Trmu	T	C	15: 85,779,186 (GRCm39)	Y278H	possibly damaging	Het
Ugt2b36	A	C	5: 87,239,947 (GRCm39)	F146C	probably damaging	Het
Vav2	T	C	2: 27,160,172 (GRCm39)	I692V	possibly damaging	Het
Wdfy3	A	G	5: 102,091,800 (GRCm39)	L513P	probably damaging	Het
Zfhx4	T	A	3: 5,467,699 (GRCm39)	V2619D	probably damaging	Het
Zfyve26	T	A	12: 79,315,844 (GRCm39)	N1211Y	possibly damaging	Het
Zp3r	A	G	1: 130,542,912 (GRCm39)	F142L	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
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
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'- GAGTTCATGCTTAGTGACCCTG -3'
(R):5'- TCTGTCTTCCATGGCAGCTG -3'

Sequencing Primer
(F):5'- ATGCTTAGTGACCCTGAGACCAG -3'
(R):5'- ATGGCAGCTGCTGTGACAG -3'

Posted On

2015-10-08