Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Neil3'

49323

Institutional Source

Beutler Lab

Gene Symbol

Neil3

Ensembl Gene

ENSMUSG00000039396

Gene Name

nei like 3 (E. coli)

Synonyms

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.608) question?

Stock #

R0533 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

53586867-53639065 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 53638775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047768] [ENSMUST00000135443]

AlphaFold

Q8K203

Predicted Effect

probably benign
Transcript: ENSMUST00000047768
AA Change: L46Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000041909
Gene: ENSMUSG00000039396
AA Change: L46Q

Domain	Start	End	E-Value	Type
low complexity region	43	54	N/A	INTRINSIC
Blast:Fapy_DNA_glyco	57	137	5e-34	BLAST
H2TH	152	235	6.13e-6	SMART
ZnF_RBZ	320	344	2.28e-5	SMART
Pfam:zf-GRF	506	551	1.2e-24	PFAM
Pfam:zf-GRF	553	597	5.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130656

Predicted Effect

probably null
Transcript: ENSMUST00000135443

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased neurogenesis following hypoxia-ischemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gm13089	G	T	4: 143,698,020	C284*	probably null	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Neil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0426:Neil3	UTSW	8	53609396	unclassified	probably benign
R0943:Neil3	UTSW	8	53609369	unclassified	probably benign
R1688:Neil3	UTSW	8	53601034	missense	probably damaging	1.00
R1875:Neil3	UTSW	8	53599419	missense	probably damaging	1.00
R2238:Neil3	UTSW	8	53599276	missense	possibly damaging	0.68
R3979:Neil3	UTSW	8	53623664	missense	probably damaging	1.00
R4909:Neil3	UTSW	8	53638893	missense	probably damaging	1.00
R5069:Neil3	UTSW	8	53601041	missense	possibly damaging	0.89
R5407:Neil3	UTSW	8	53601019	missense	probably benign	0.00
R6144:Neil3	UTSW	8	53599412	missense	probably benign	0.01
R6185:Neil3	UTSW	8	53599147	missense	probably benign	0.03
R6234:Neil3	UTSW	8	53608739	missense	probably damaging	1.00
R6375:Neil3	UTSW	8	53587276	missense	possibly damaging	0.71
R6830:Neil3	UTSW	8	53599479	missense	probably benign	0.00
R7003:Neil3	UTSW	8	53600966	missense	possibly damaging	0.60
R8165:Neil3	UTSW	8	53589094	missense	probably benign	0.00
R8390:Neil3	UTSW	8	53609524	missense	probably damaging	1.00
R9166:Neil3	UTSW	8	53605687	missense	probably damaging	1.00
R9554:Neil3	UTSW	8	53608735	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGAAAGCATCTTTTGCTGACTGCC -3'
(R):5'- TTTGAACTTCCCGCCCAGTGTG -3'

Sequencing Primer
(F):5'- TAGCACTGGCACTGTTAGAC -3'
(R):5'- CCAGTGTGGGTCAGCAG -3'

Posted On

2013-06-12