Mutagenetix > Incidental Mutation

Incidental Mutation 'R2272:Neil1'

242573

Institutional Source

Beutler Lab

Gene Symbol

Neil1

Ensembl Gene

ENSMUSG00000032298

Gene Name

nei endonuclease VIII-like 1 (E. coli)

Synonyms

2810450N13Rik

MMRRC Submission

040272-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.455) question?

Stock #

R2272 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57050084-57055589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57054069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 84 (S84P)

Ref Sequence

ENSEMBL: ENSMUSP00000139917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000160147] [ENSMUST00000161182] [ENSMUST00000190245] [ENSMUST00000186410]

AlphaFold

Q8K4Q6

Predicted Effect

probably benign
Transcript: ENSMUST00000034836

SMART Domains

Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	251	510	4.3e-89	PFAM
Alpha-mann_mid	516	593	1.37e-26	SMART
low complexity region	603	613	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	619	1029	1.3e-84	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000034842
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298
AA Change: S84P

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159711

Predicted Effect

probably benign
Transcript: ENSMUST00000160147

SMART Domains

Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	251	510	2.8e-86	PFAM
Alpha-mann_mid	516	595	1.22e-32	SMART
low complexity region	605	615	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	621	1031	1.2e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160280

Predicted Effect

probably benign
Transcript: ENSMUST00000161182

SMART Domains

Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Pfam:Glyco_hydro_38	175	411	9.4e-67	PFAM
Alpha-mann_mid	417	496	1.22e-32	SMART
low complexity region	506	516	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	522	932	1.1e-84	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161875

Predicted Effect

probably damaging
Transcript: ENSMUST00000190245
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298
AA Change: S84P

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.1e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186410
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298
AA Change: S84P

Domain	Start	End	E-Value	Type
Fapy_DNA_glyco	2	124	2.9e-16	SMART
H2TH	139	224	9.35e-2	SMART
Pfam:Neil1-DNA_bind	252	290	2.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162634

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice develop severe obesity, dyslipidemia, fatty liver disease and tend to show hyperinsulinemia and increased mtDNA damage and deletions. Sporadic phenotypes include reduced subcutaneous fat, skin ulcers, joint inflammation, infertility,and tumors. Male heterozygotes become obese. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,337,866 (GRCm39)	E160V	probably damaging	Het
Ago1	C	A	4: 126,347,443 (GRCm39)	M435I	probably benign	Het
Apol7b	G	A	15: 77,307,910 (GRCm39)	A195V	probably damaging	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Atg2b	C	T	12: 105,604,267 (GRCm39)	V1545I	probably benign	Het
Atp4a	C	A	7: 30,414,925 (GRCm39)	S238*	probably null	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Bmal2	T	C	6: 146,723,612 (GRCm39)	F314S	probably damaging	Het
Brinp3	A	G	1: 146,777,142 (GRCm39)	R530G	possibly damaging	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Cracr2a	T	A	6: 127,584,261 (GRCm39)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Ddc	T	C	11: 11,785,764 (GRCm39)	N308D	probably damaging	Het
Dnah10	A	G	5: 124,808,530 (GRCm39)	N195S	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Fmo1	A	T	1: 162,661,424 (GRCm39)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,626,616 (GRCm39)	I310N	possibly damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hydin	A	T	8: 111,035,764 (GRCm39)	I152L	probably benign	Het
Itpr1	T	A	6: 108,470,716 (GRCm39)	C2214S	probably damaging	Het
Kcnq3	T	A	15: 65,900,529 (GRCm39)	D242V	probably damaging	Het
Klhl1	T	C	14: 96,755,344 (GRCm39)	D137G	probably benign	Het
Lama5	T	C	2: 179,820,396 (GRCm39)	D3282G	possibly damaging	Het
Lhx8	A	G	3: 154,022,399 (GRCm39)	L254S	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Matn4	A	T	2: 164,239,162 (GRCm39)	C232S	possibly damaging	Het
Mios	C	T	6: 8,226,865 (GRCm39)	R614C	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Mycbp2	T	C	14: 103,381,774 (GRCm39)	H3612R	probably null	Het
Myo5b	G	T	18: 74,866,996 (GRCm39)	L1382F	probably damaging	Het
Myo7b	C	T	18: 32,110,096 (GRCm39)	S1122N	probably benign	Het
Myo9a	T	A	9: 59,722,584 (GRCm39)	F549I	probably damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Nfix	A	G	8: 85,453,804 (GRCm39)	I256T	probably damaging	Het
Nlrp4f	A	T	13: 65,342,222 (GRCm39)	D474E	probably benign	Het
Or5ac21	T	G	16: 59,123,807 (GRCm39)	M98R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Pcnx1	T	C	12: 82,042,088 (GRCm39)	V2240A	probably benign	Het
Per3	T	A	4: 151,103,342 (GRCm39)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,919,524 (GRCm39)	L66I	probably damaging	Het
Pramel22	G	A	4: 143,380,712 (GRCm39)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Prss54	C	T	8: 96,297,735 (GRCm39)	W45*	probably null	Het
Psg29	A	T	7: 16,944,621 (GRCm39)	N377I	probably benign	Het
Rab3gap2	T	A	1: 185,015,739 (GRCm39)		probably null	Het
Serpinb9c	C	T	13: 33,338,524 (GRCm39)	G125E	probably damaging	Het
Skint4	A	G	4: 111,977,065 (GRCm39)	T152A	probably benign	Het
Slc26a2	A	G	18: 61,331,650 (GRCm39)	C594R	possibly damaging	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
Ttn	T	A	2: 76,594,864 (GRCm39)	E20394V	probably damaging	Het
Ugt2b36	A	G	5: 87,214,114 (GRCm39)	V510A	possibly damaging	Het
Usf1	T	C	1: 171,245,628 (GRCm39)	L291P	possibly damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r172	A	C	7: 23,359,616 (GRCm39)	D167A	probably damaging	Het
Wnt10b	T	A	15: 98,672,228 (GRCm39)	Q163L	probably damaging	Het

Other mutations in Neil1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00915:Neil1	APN	9	57,051,261 (GRCm39)	critical splice donor site	probably null
IGL02587:Neil1	APN	9	57,052,263 (GRCm39)	missense	probably damaging	1.00
IGL03192:Neil1	APN	9	57,050,819 (GRCm39)	missense	probably benign
R0138:Neil1	UTSW	9	57,051,030 (GRCm39)	splice site	probably benign
R0348:Neil1	UTSW	9	57,054,065 (GRCm39)	splice site	probably null
R0356:Neil1	UTSW	9	57,054,180 (GRCm39)	missense	possibly damaging	0.57
R1280:Neil1	UTSW	9	57,054,185 (GRCm39)	missense	probably damaging	1.00
R1835:Neil1	UTSW	9	57,053,888 (GRCm39)	missense	probably damaging	1.00
R1853:Neil1	UTSW	9	57,051,999 (GRCm39)	missense	probably damaging	0.98
R1942:Neil1	UTSW	9	57,053,891 (GRCm39)	missense	probably benign	0.00
R3116:Neil1	UTSW	9	57,053,947 (GRCm39)	missense	probably benign
R3608:Neil1	UTSW	9	57,051,485 (GRCm39)	missense	probably damaging	1.00
R3713:Neil1	UTSW	9	57,054,254 (GRCm39)	missense	probably damaging	1.00
R4883:Neil1	UTSW	9	57,054,206 (GRCm39)	missense	probably damaging	1.00
R5744:Neil1	UTSW	9	57,051,485 (GRCm39)	missense	probably damaging	1.00
R9439:Neil1	UTSW	9	57,051,098 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCGTTCATACTCCAGCAAG -3'
(R):5'- AGCCACTTTGTGAATGAGACATG -3'

Sequencing Primer
(F):5'- GTTCATACTCCAGCAAGACACAGG -3'
(R):5'- CCACTTTGTGAATGAGACATGTAAGG -3'

Posted On

2014-10-16