Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Poln'

618394

Institutional Source

Beutler Lab

Gene Symbol

Poln

Ensembl Gene

ENSMUSG00000045102

Gene Name

DNA polymerase N

Synonyms

POL4P

MMRRC Submission

067476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34164523-34326792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34280016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 282 (V282A)

Ref Sequence

ENSEMBL: ENSMUSP00000144578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042954] [ENSMUST00000202409] [ENSMUST00000202638]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000042954
AA Change: V282A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: V282A

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
POLAc	605	814	7.88e-67	SMART
low complexity region	829	843	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202325

Predicted Effect

probably benign
Transcript: ENSMUST00000202409
AA Change: V282A

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: V282A

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
coiled coil region	448	471	N/A	INTRINSIC
POLAc	587	796	2.6e-69	SMART
low complexity region	811	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202638
AA Change: V282A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: V282A

Domain	Start	End	E-Value	Type
low complexity region	110	121	N/A	INTRINSIC
coiled coil region	448	471	N/A	INTRINSIC
POLAc	605	770	3e-37	SMART
low complexity region	785	799	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced meiotic double-strand breaks at a meiotic recombination hot spot harboring insertion/deletion polymorphisms, but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,699 (GRCm39)	H225R	probably damaging	Het
Adgrb2	T	A	4: 129,916,061 (GRCm39)	L1451Q	probably damaging	Het
Afdn	T	C	17: 14,119,403 (GRCm39)	L1713P	probably damaging	Het
Agr2	A	T	12: 36,045,558 (GRCm39)	I15F	probably benign	Het
Agrn	T	C	4: 156,253,468 (GRCm39)	T1808A	probably benign	Het
Akap6	A	G	12: 53,188,459 (GRCm39)	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,414,284 (GRCm39)		probably null	Het
Anpep	A	G	7: 79,489,148 (GRCm39)		probably null	Het
Apoa4	A	T	9: 46,153,591 (GRCm39)	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,351 (GRCm39)	T145N	probably benign	Het
Art1	A	T	7: 101,756,052 (GRCm39)	Q81L	probably benign	Het
Astl	A	T	2: 127,185,903 (GRCm39)	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,047,977 (GRCm39)	I611T	probably damaging	Het
Bltp1	T	A	3: 36,997,363 (GRCm39)	V1140E	probably benign	Het
Cacna2d2	T	A	9: 107,404,632 (GRCm39)	V1139D	possibly damaging	Het
Castor1	G	T	11: 4,171,639 (GRCm39)	A288S	probably damaging	Het
Chst10	T	A	1: 38,905,112 (GRCm39)	K198*	probably null	Het
Ckmt2	G	A	13: 92,011,431 (GRCm39)	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,132,469 (GRCm39)	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,183,238 (GRCm39)	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,062,176 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,771,566 (GRCm39)	G860V	probably damaging	Het
Ecm2	A	T	13: 49,668,326 (GRCm39)	I10F	probably benign	Het
Epb41l1	A	T	2: 156,348,332 (GRCm39)	D312V	probably damaging	Het
Epsti1	G	A	14: 78,168,741 (GRCm39)	R126H	probably damaging	Het
Erc1	A	T	6: 119,750,626 (GRCm39)	Y367*	probably null	Het
Erh	T	A	12: 80,684,352 (GRCm39)	R42W	probably damaging	Het
Fam124a	C	T	14: 62,843,325 (GRCm39)	Q278*	probably null	Het
Fbxo3	T	A	2: 103,885,286 (GRCm39)	L385Q	probably damaging	Het
Fbxo31	T	A	8: 122,285,794 (GRCm39)	T219S	probably damaging	Het
Fstl5	T	G	3: 76,555,725 (GRCm39)	V534G	possibly damaging	Het
Gbp2b	A	T	3: 142,323,925 (GRCm39)	I577F	probably benign	Het
Gbp8	A	T	5: 105,198,783 (GRCm39)	L44*	probably null	Het
Gck	C	T	11: 5,860,301 (GRCm39)	A114T	probably benign	Het
Gtf2i	A	G	5: 134,284,688 (GRCm39)	V537A	possibly damaging	Het
Iqcm	C	A	8: 76,489,733 (GRCm39)	H400Q	probably damaging	Het
Iqcn	T	C	8: 71,163,555 (GRCm39)	V916A	probably benign	Het
Itpr1	T	C	6: 108,363,589 (GRCm39)	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,258,116 (GRCm39)	E254G	probably damaging	Het
Kif15	A	T	9: 122,836,490 (GRCm39)	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,846 (GRCm39)	R237Q	probably benign	Het
Klhl38	T	C	15: 58,186,258 (GRCm39)	E157G	probably benign	Het
Klrk1	T	A	6: 129,589,786 (GRCm39)	N221I	probably benign	Het
Lhx8	A	T	3: 154,012,576 (GRCm39)	H345Q	probably damaging	Het
Lims1	T	A	10: 58,245,494 (GRCm39)	N174K	probably benign	Het
Madd	T	A	2: 90,997,406 (GRCm39)	Q754L	probably benign	Het
Mau2	T	C	8: 70,472,440 (GRCm39)	D581G	probably damaging	Het
Miga1	A	T	3: 151,982,393 (GRCm39)	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3c	T	C	4: 115,688,884 (GRCm39)	V139A	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nalf1	T	C	8: 9,257,892 (GRCm39)	T419A	probably benign	Het
Ncapd2	C	T	6: 125,157,989 (GRCm39)	V380I	probably damaging	Het
Nes	G	A	3: 87,884,315 (GRCm39)	R858K	probably benign	Het
Nphp3	T	C	9: 103,909,162 (GRCm39)	S791P	probably benign	Het
Nup210	T	C	6: 91,047,215 (GRCm39)	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	C	T	2: 88,356,215 (GRCm39)	T96I	probably benign	Het
Or6y1	T	A	1: 174,277,162 (GRCm39)	S324R	unknown	Het
Or8b50	T	A	9: 38,518,685 (GRCm39)	M308K	probably benign	Het
Ovgp1	T	A	3: 105,883,339 (GRCm39)	S105T	probably benign	Het
Pbld2	T	A	10: 62,883,771 (GRCm39)	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,744,323 (GRCm39)	M143L	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Ppp1r11	T	C	17: 37,262,338 (GRCm39)	T21A	probably damaging	Het
Prpf8	T	A	11: 75,393,368 (GRCm39)	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,267,738 (GRCm39)	A161V	probably benign	Het
Rasa3	T	C	8: 13,638,931 (GRCm39)	D292G	probably damaging	Het
Rnf25	T	C	1: 74,633,123 (GRCm39)	T411A	probably damaging	Het
Rraga	C	T	4: 86,494,217 (GRCm39)	T21I	probably damaging	Het
Setdb2	T	A	14: 59,639,824 (GRCm39)	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,117,787 (GRCm39)	T183I	probably damaging	Het
Shank3	A	T	15: 89,389,642 (GRCm39)	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,950,189 (GRCm39)		probably null	Het
Slc6a18	T	C	13: 73,813,745 (GRCm39)	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207 (GRCm39)	V96I	probably damaging	Het
Sycp2	C	T	2: 178,016,378 (GRCm39)	A695T	probably benign	Het
Tnrc18	C	A	5: 142,717,807 (GRCm39)	G2216C	unknown	Het
Trak2	T	C	1: 58,985,447 (GRCm39)	N17S	probably benign	Het
Ttn	T	A	2: 76,708,776 (GRCm39)	N8792I	unknown	Het
Ttyh1	T	C	7: 4,125,540 (GRCm39)	V64A	probably benign	Het
Usb1	T	A	8: 96,060,041 (GRCm39)	S50R	probably damaging	Het
Ush2a	T	A	1: 188,689,570 (GRCm39)	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,095,935 (GRCm39)	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,600,302 (GRCm39)	I442T	probably benign	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het

Other mutations in Poln

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Poln	APN	5	34,280,104 (GRCm39)	missense	probably benign	0.17
IGL00938:Poln	APN	5	34,286,568 (GRCm39)	missense	probably damaging	1.00
IGL02081:Poln	APN	5	34,286,483 (GRCm39)	missense	probably benign
IGL02411:Poln	APN	5	34,270,666 (GRCm39)	nonsense	probably null
IGL02440:Poln	APN	5	34,286,474 (GRCm39)	missense	probably damaging	1.00
IGL02484:Poln	APN	5	34,286,721 (GRCm39)	missense	probably damaging	1.00
IGL02577:Poln	APN	5	34,270,679 (GRCm39)	missense	probably benign	0.03
IGL03113:Poln	APN	5	34,274,206 (GRCm39)	missense	probably benign	0.01
R0034:Poln	UTSW	5	34,272,762 (GRCm39)	missense	possibly damaging	0.78
R0034:Poln	UTSW	5	34,272,762 (GRCm39)	missense	possibly damaging	0.78
R0068:Poln	UTSW	5	34,234,432 (GRCm39)	splice site	probably benign
R0068:Poln	UTSW	5	34,234,432 (GRCm39)	splice site	probably benign
R0325:Poln	UTSW	5	34,307,108 (GRCm39)	missense	probably benign	0.00
R0578:Poln	UTSW	5	34,171,682 (GRCm39)	missense	probably damaging	1.00
R0631:Poln	UTSW	5	34,276,302 (GRCm39)	missense	possibly damaging	0.93
R1171:Poln	UTSW	5	34,261,284 (GRCm39)	missense	probably damaging	1.00
R1266:Poln	UTSW	5	34,290,453 (GRCm39)	critical splice donor site	probably null
R1418:Poln	UTSW	5	34,236,319 (GRCm39)	missense	probably benign	0.00
R1449:Poln	UTSW	5	34,171,682 (GRCm39)	missense	probably damaging	1.00
R1558:Poln	UTSW	5	34,190,143 (GRCm39)	missense	probably benign	0.04
R1723:Poln	UTSW	5	34,280,016 (GRCm39)	missense	probably benign	0.16
R1806:Poln	UTSW	5	34,264,494 (GRCm39)	splice site	probably benign
R4124:Poln	UTSW	5	34,261,295 (GRCm39)	missense	probably benign	0.32
R4125:Poln	UTSW	5	34,261,295 (GRCm39)	missense	probably benign	0.32
R4128:Poln	UTSW	5	34,261,295 (GRCm39)	missense	probably benign	0.32
R4155:Poln	UTSW	5	34,166,993 (GRCm39)	missense	possibly damaging	0.90
R4353:Poln	UTSW	5	34,286,796 (GRCm39)	missense	probably benign	0.00
R4717:Poln	UTSW	5	34,286,792 (GRCm39)	missense	possibly damaging	0.46
R4788:Poln	UTSW	5	34,286,675 (GRCm39)	missense	probably benign	0.30
R4981:Poln	UTSW	5	34,264,429 (GRCm39)	critical splice donor site	probably null
R5456:Poln	UTSW	5	34,164,786 (GRCm39)	missense	possibly damaging	0.95
R6020:Poln	UTSW	5	34,266,775 (GRCm39)	missense	probably damaging	0.99
R6484:Poln	UTSW	5	34,286,857 (GRCm39)	missense	probably benign	0.01
R7134:Poln	UTSW	5	34,276,340 (GRCm39)	missense	possibly damaging	0.86
R7639:Poln	UTSW	5	34,290,495 (GRCm39)	missense	possibly damaging	0.77
R7764:Poln	UTSW	5	34,274,151 (GRCm39)	critical splice donor site	probably null
R7874:Poln	UTSW	5	34,181,694 (GRCm39)	missense	probably damaging	1.00
R8315:Poln	UTSW	5	34,266,717 (GRCm39)	missense	probably benign	0.00
R8320:Poln	UTSW	5	34,307,171 (GRCm39)	missense	possibly damaging	0.70
R8340:Poln	UTSW	5	34,307,118 (GRCm39)	missense	probably damaging	0.99
R8794:Poln	UTSW	5	34,286,871 (GRCm39)	missense	possibly damaging	0.85
R8926:Poln	UTSW	5	34,286,769 (GRCm39)	missense	probably benign	0.24
R9021:Poln	UTSW	5	34,286,485 (GRCm39)	missense	probably benign	0.00
R9128:Poln	UTSW	5	34,171,658 (GRCm39)	missense	probably damaging	1.00
R9382:Poln	UTSW	5	34,164,842 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCAAAGCTGTCACAATACTG -3'
(R):5'- AGCTTGCTCTCATTTGTGGC -3'

Sequencing Primer
(F):5'- GAGGACACCACTGCTTTCTTGG -3'
(R):5'- GCTCTCATTTGTGGCTTTGC -3'

Posted On

2020-01-23