Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Poln'

552899

Institutional Source

Beutler Lab

Gene Symbol

Poln

Ensembl Gene

ENSMUSG00000045102

Gene Name

DNA polymerase N

Synonyms

POL4P

MMRRC Submission

045219-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34164523-34326792 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34276340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 305 (N305I)

Ref Sequence

ENSEMBL: ENSMUSP00000036110 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042954
AA Change: N305I

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036110
Gene: ENSMUSG00000045102
AA Change: N305I

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

possibly damaging
Transcript: ENSMUST00000202409
AA Change: N305I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144578
Gene: ENSMUSG00000045102
AA Change: N305I

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

possibly damaging
Transcript: ENSMUST00000202638
AA Change: N305I

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143793
Gene: ENSMUSG00000045102
AA Change: N305I

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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
Abcf1	A	G	17: 36,270,144 (GRCm39)	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Eml1	C	T	12: 108,472,810 (GRCm39)	S206L	probably benign	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fetub	A	G	16: 22,748,007 (GRCm39)	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Marchf10	A	G	11: 105,299,502 (GRCm39)	S116P	probably benign	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nnt	A	G	13: 119,531,198 (GRCm39)	V183A	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	probably damaging	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
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'- AGTGTCTGTGTGGCCAAGAG -3'
(R):5'- AAGCTTTTCTCAGAGATGAGCC -3'

Sequencing Primer
(F):5'- CCCTTGGAGCAGGTGACATG -3'
(R):5'- TTCTCAGAGATGAGCCCTGAGTC -3'

Posted On

2019-05-15