Mutagenetix > Incidental Mutation

Incidental Mutation 'R3608:Neil1'

269162

Institutional Source

Beutler Lab

Gene Symbol

Neil1

Ensembl Gene

ENSMUSG00000032298

Gene Name

nei endonuclease VIII-like 1 (E. coli)

Synonyms

2810450N13Rik

Accession Numbers

Essential gene?

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

Stock #

R3608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57050084-57055589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57051485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 278 (T278A)

Ref Sequence

ENSEMBL: ENSMUSP00000139917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000186410] [ENSMUST00000190245] [ENSMUST00000161182] [ENSMUST00000161663] [ENSMUST00000160147]

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: T278A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298
AA Change: T278A

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

probably benign
Transcript: ENSMUST00000159101

SMART Domains

Protein: ENSMUSP00000124304
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Alpha-mann_mid	21	100	1.22e-32	SMART
low complexity region	110	120	N/A	INTRINSIC
low complexity region	164	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159711

Predicted Effect

probably damaging
Transcript: ENSMUST00000186410
AA Change: T278A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298
AA Change: T278A

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: ENSMUST00000190245
AA Change: T278A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298
AA Change: T278A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161875

Predicted Effect

probably benign
Transcript: ENSMUST00000160426

SMART Domains

Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
Alpha-mann_mid	24	77	4.48e-1	SMART
low complexity region	87	97	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000161663

SMART Domains

Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

Domain	Start	End	E-Value	Type
low complexity region	187	195	N/A	INTRINSIC
Pfam:Glyco_hydro_38	302	551	1.8e-81	PFAM
Alpha-mann_mid	557	636	1.22e-32	SMART
low complexity region	646	656	N/A	INTRINSIC
Pfam:Glyco_hydro_38C	662	866	1.2e-25	PFAM

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.1%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B3gnt4	C	A	5: 123,648,838 (GRCm39)	R68S	probably damaging	Het
Brf1	A	G	12: 112,924,894 (GRCm39)	L610P	probably benign	Het
Cacna1e	T	A	1: 154,291,831 (GRCm39)	R1783S	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
CK137956	A	T	4: 127,845,119 (GRCm39)	I208N	probably damaging	Het
Col17a1	G	A	19: 47,668,844 (GRCm39)	L127F	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dlgap4	C	T	2: 156,590,332 (GRCm39)		probably benign	Het
Ect2l	A	T	10: 18,018,688 (GRCm39)	N619K	possibly damaging	Het
Hamp2	T	C	7: 30,623,539 (GRCm39)	T8A	probably benign	Het
Lamb1	T	A	12: 31,337,909 (GRCm39)	N407K	probably damaging	Het
Lrrc32	C	T	7: 98,148,393 (GRCm39)	T391M	probably benign	Het
Mroh2a	G	T	1: 88,172,717 (GRCm39)	A829S	probably damaging	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Pcnx2	T	C	8: 126,614,840 (GRCm39)	T204A	probably benign	Het
Psmc3	T	A	2: 90,884,925 (GRCm39)	D30E	probably benign	Het
Rtkn	T	A	6: 83,127,016 (GRCm39)	C328S	probably damaging	Het
Speer4f2	C	A	5: 17,579,492 (GRCm39)	T97K	probably benign	Het
Srd5a2	A	G	17: 74,334,026 (GRCm39)	V131A	probably benign	Het
Tm9sf4	A	G	2: 153,020,897 (GRCm39)	H35R	probably benign	Het
Ubr2	G	T	17: 47,255,449 (GRCm39)	D1412E	probably damaging	Het
Vmn2r95	G	A	17: 18,660,235 (GRCm39)	V216I	possibly damaging	Het
Ypel1	A	T	16: 16,910,154 (GRCm39)	C126*	probably null	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
R2272:Neil1	UTSW	9	57,054,069 (GRCm39)	missense	probably damaging	1.00
R3116:Neil1	UTSW	9	57,053,947 (GRCm39)	missense	probably benign
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'- CTCTGGAGTCAACCTGGTTTG -3'
(R):5'- ACAGGCCTAGTCACAGTGAGAG -3'

Sequencing Primer
(F):5'- AGTCAACCTGGTTTGATGAAGG -3'
(R):5'- AGGTTGAACCAGGCTCACTGTTC -3'

Posted On

2015-02-19