Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Poll'

580587

Institutional Source

Beutler Lab

Gene Symbol

Poll

Ensembl Gene

ENSMUSG00000025218

Gene Name

polymerase (DNA directed), lambda

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45552275-45560531 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45553057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 491 (V491M)

Ref Sequence

ENSEMBL: ENSMUSP00000026239 (fasta)

Gene Model

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

AlphaFold

Q9QXE2

Predicted Effect

probably damaging
Transcript: ENSMUST00000026239
AA Change: V491M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026239
Gene: ENSMUSG00000025218
AA Change: V491M

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

Meta Mutation Damage Score

0.2097

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,983,221		probably null	Het
2310034C09Rik	A	G	16: 88,759,354	Y152C	probably benign	Het
4921530L21Rik	A	T	14: 95,882,591	K261N	probably benign	Het
5830411N06Rik	A	T	7: 140,261,607	T275S	probably benign	Het
Acads	C	A	5: 115,110,998	Q365H	probably damaging	Het
Akap1	A	G	11: 88,845,528	S103P	probably damaging	Het
Ampd1	T	A	3: 103,074,119		probably null	Het
Apoa1	T	A	9: 46,229,802		probably null	Het
Asb16	A	G	11: 102,272,655	D157G	possibly damaging	Het
Bank1	T	C	3: 136,055,800	N748D	possibly damaging	Het
BC034090	C	A	1: 155,226,381	G46W	probably damaging	Het
C530008M17Rik	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 76,856,954		probably benign	Het
Ccdc73	T	A	2: 104,951,869	V190E	probably damaging	Het
Cyb561a3	A	G	19: 10,582,332	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 27,158,243	D427V	probably damaging	Het
Cyp4f14	T	C	17: 32,909,157	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,257,102	T510A	probably benign	Het
Dennd6a	G	T	14: 26,579,710	E26*	probably null	Het
Dusp10	T	C	1: 184,069,221	I395T	probably damaging	Het
Dzip3	T	A	16: 48,951,989	H439L	probably damaging	Het
Heatr5b	T	A	17: 78,768,533	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,711,796	F278L	probably benign	Het
Hspg2	T	A	4: 137,515,664	M702K	probably damaging	Het
Hydin	T	C	8: 110,583,914	F4081L	probably damaging	Het
Ido1	T	G	8: 24,586,916	T209P	probably benign	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ipo8	T	C	6: 148,789,805	Y689C	probably benign	Het
Macf1	C	T	4: 123,456,643	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,941,554	T1014A	probably benign	Het
Nek5	A	G	8: 22,108,040	F200L	probably damaging	Het
Nipal1	A	G	5: 72,667,641	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159	N80I	probably damaging	Het
Nmur1	G	A	1: 86,386,378	P389S	probably benign	Het
Olfr1037	T	C	2: 86,084,907	Y290C	probably damaging	Het
Olfr59	T	C	11: 74,288,685	L13P	possibly damaging	Het
Olfr975	G	T	9: 39,950,053	C239*	probably null	Het
Patl2	A	C	2: 122,127,525	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,309,275	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,597,750	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,339,729	N35S	probably benign	Het
Pigw	A	T	11: 84,877,963	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,200,701	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,486,796	F436L	probably damaging	Het
Plch2	T	C	4: 154,984,096	T1358A	probably benign	Het
Polr1e	A	G	4: 45,024,553		probably null	Het
Ppp1r35	G	A	5: 137,780,017	W258*	probably null	Het
Ptpdc1	A	T	13: 48,586,666	F430I	probably benign	Het
Ptprh	T	C	7: 4,552,743	E739G	probably damaging	Het
Ramp2	T	C	11: 101,247,939	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,610,921		probably null	Het
Rbm5	A	G	9: 107,750,394		probably null	Het
Rnf39	A	T	17: 36,943,349	S88C	probably benign	Het
Rpl12	A	G	2: 32,963,824	I155V	probably benign	Het
Senp5	C	T	16: 31,976,029	E596K	unknown	Het
Serpinb9d	A	G	13: 33,195,933	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,416,316	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,226,484		probably null	Het
Spatc1	A	T	15: 76,268,368	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,368,229		probably benign	Het
Traf3ip1	A	G	1: 91,511,388	D342G	probably benign	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Utrn	A	C	10: 12,439,791	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,360,877	M168L	probably benign	Het
Vmn1r77	T	A	7: 12,041,767	S157T	probably benign	Het
Zfp977	A	G	7: 42,580,460	S214P	probably benign	Het
Zscan10	T	C	17: 23,610,005	L507P	possibly damaging	Het

Other mutations in Poll

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Poll	APN	19	45553601	missense	probably damaging	0.99
IGL01369:Poll	APN	19	45553676	missense	probably damaging	1.00
R0308:Poll	UTSW	19	45555965	missense	probably damaging	1.00
R0374:Poll	UTSW	19	45557870	missense	probably benign	0.21
R2090:Poll	UTSW	19	45558838	missense	probably benign	0.24
R3721:Poll	UTSW	19	45553577	missense	probably damaging	0.99
R3938:Poll	UTSW	19	45558418	unclassified	probably benign
R4171:Poll	UTSW	19	45556053	missense	probably damaging	1.00
R4626:Poll	UTSW	19	45555124	missense	probably benign	0.02
R5990:Poll	UTSW	19	45553155	missense	possibly damaging	0.91
R6090:Poll	UTSW	19	45555997	missense	probably benign
R6433:Poll	UTSW	19	45553604	missense	probably benign	0.00
R7023:Poll	UTSW	19	45558838	missense	probably benign
R8221:Poll	UTSW	19	45553608	missense	probably damaging	0.99
R8546:Poll	UTSW	19	45557977	missense	probably damaging	0.99
R9083:Poll	UTSW	19	45557878	missense	probably benign	0.01
R9203:Poll	UTSW	19	45553652	missense	probably benign	0.00
R9288:Poll	UTSW	19	45558842	missense	probably benign	0.03
R9314:Poll	UTSW	19	45558652	missense	probably benign
R9547:Poll	UTSW	19	45557920	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GCCTAAGTGCTTGAAGACGTC -3'
(R):5'- CTTAGGCAACCTGAGAAGGTG -3'

Sequencing Primer
(F):5'- AAGACGTCCTTCTCCGTGG -3'
(R):5'- TGAGACTATCAGGCCTGGCTC -3'

Posted On

2019-10-07