Mutagenetix > Incidental Mutation

Incidental Mutation 'R1266:Poln'

151163

Institutional Source

Beutler Lab

Gene Symbol

Poln

Ensembl Gene

ENSMUSG00000045102

Gene Name

DNA polymerase N

Synonyms

POL4P

MMRRC Submission

039333-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1266 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34164523-34326792 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 34290453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143793 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000042954

SMART Domains

Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102

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 null
Transcript: ENSMUST00000202409

SMART Domains

Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102

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 null
Transcript: ENSMUST00000202638

SMART Domains

Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102

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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.4%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	C	A	12: 8,056,093 (GRCm39)	T1492N	probably benign	Het
Brix1	T	C	15: 10,478,847 (GRCm39)	T191A	probably damaging	Het
C1qc	A	G	4: 136,617,668 (GRCm39)	S143P	possibly damaging	Het
Crim1	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 78,508,262 (GRCm39)		probably benign	Het
Defa22	G	T	8: 21,652,384 (GRCm39)	V17F	probably damaging	Het
Fer1l4	T	A	2: 155,888,169 (GRCm39)	T439S	possibly damaging	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Krtap19-9b	A	T	16: 88,728,940 (GRCm39)	S54T	unknown	Het
Ncor1	T	C	11: 62,224,866 (GRCm39)	D798G	probably damaging	Het
Oosp1	T	C	19: 11,645,163 (GRCm39)	H167R	possibly damaging	Het
Or5d16	A	T	2: 87,773,877 (GRCm39)	L32M	probably benign	Het
Primpol	A	T	8: 47,046,734 (GRCm39)	N187K	probably damaging	Het
Prr12	A	G	7: 44,699,677 (GRCm39)		probably benign	Het
Setd1b	A	G	5: 123,285,904 (GRCm39)	T317A	unknown	Het
Sgo2b	G	A	8: 64,381,455 (GRCm39)	T459M	probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zfp455	C	T	13: 67,355,028 (GRCm39)	R99*	probably null	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
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
R8039:Poln	UTSW	5	34,280,016 (GRCm39)	missense	probably benign	0.16
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'- GCTCTCACAGCACTTTCTGCACAC -3'
(R):5'- accactgcctgactAACTTTAGGTTTTC -3'

Sequencing Primer
(F):5'- TTTCTGCACACAGGGAGC -3'
(R):5'- cacagaactccacctgcc -3'

Posted On

2014-01-29