Mutagenetix > Incidental Mutation

Incidental Mutation 'R9439:Neil1'

713442

Institutional Source

Beutler Lab

Gene Symbol

Neil1

Ensembl Gene

ENSMUSG00000032298

Gene Name

nei endonuclease VIII-like 1 (E. coli)

Synonyms

2810450N13Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57050084-57055589 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 57051098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 294 (R294*)

Ref Sequence

ENSEMBL: ENSMUSP00000034842 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000034842
AA Change: R294*

SMART Domains

Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298
AA Change: R294*

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

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

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 null
Transcript: ENSMUST00000186410
AA Change: R294*

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298
AA Change: R294*

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 null
Transcript: ENSMUST00000190245
AA Change: R294*

SMART Domains

Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298
AA Change: R294*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,772,048 (GRCm39)	E412D	probably benign	Het
Aak1	T	A	6: 86,933,274 (GRCm39)	V415D	probably damaging	Het
Ache	A	C	5: 137,289,185 (GRCm39)	D297A	probably damaging	Het
Armc9	T	C	1: 86,084,687 (GRCm39)	I4T	possibly damaging	Het
Atp8b2	T	A	3: 89,851,492 (GRCm39)	Y925F		Het
Avpr1b	T	C	1: 131,528,029 (GRCm39)	L184P	probably damaging	Het
Cabin1	G	A	10: 75,581,069 (GRCm39)	P419L	probably damaging	Het
Ccdc88c	T	C	12: 100,884,597 (GRCm39)	S1578G	probably benign	Het
Ccnd2	A	T	6: 127,127,617 (GRCm39)	C40*	probably null	Het
Col6a3	A	T	1: 90,744,155 (GRCm39)	I471N	probably damaging	Het
Cp	A	G	3: 20,046,671 (GRCm39)		probably null	Het
Cyfip2	C	T	11: 46,091,668 (GRCm39)	R1084Q	probably damaging	Het
Diaph1	A	G	18: 38,029,412 (GRCm39)		probably null	Het
Dnah6	T	C	6: 73,012,330 (GRCm39)	N3713S	possibly damaging	Het
Dot1l	G	T	10: 80,621,438 (GRCm39)	R633L	possibly damaging	Het
Ehmt1	A	T	2: 24,715,030 (GRCm39)	M809K	probably damaging	Het
Fcgbp	C	A	7: 27,803,436 (GRCm39)	A1680E	possibly damaging	Het
Flt1	A	G	5: 147,515,207 (GRCm39)	F1072L	probably damaging	Het
Gm19410	G	T	8: 36,248,810 (GRCm39)	A549S	probably damaging	Het
Gm57859	C	T	11: 113,583,229 (GRCm39)	Q519*	probably null	Het
Gnat1	A	T	9: 107,553,511 (GRCm39)	I249N		Het
Gp2	T	C	7: 119,053,433 (GRCm39)	Y176C	probably damaging	Het
Gpc2	G	T	5: 138,277,248 (GRCm39)	Q60K	probably benign	Het
Gpsm2	T	A	3: 108,610,397 (GRCm39)	E21V	probably damaging	Het
Igkv4-80	T	A	6: 68,993,793 (GRCm39)	M33L	probably benign	Het
Il20ra	C	A	10: 19,618,751 (GRCm39)	H66Q	probably benign	Het
Kap	C	T	6: 133,828,950 (GRCm39)	D61N	probably benign	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Mpp7	A	T	18: 7,461,692 (GRCm39)	Y60*	probably null	Het
Nkx6-3	A	G	8: 23,643,778 (GRCm39)	S60G	probably benign	Het
Noc2l	T	A	4: 156,326,130 (GRCm39)	S406T	possibly damaging	Het
Or11m3	T	C	15: 98,396,247 (GRCm39)	V298A	possibly damaging	Het
Or14j2	A	G	17: 37,885,825 (GRCm39)	I163T	probably benign	Het
Or2h2c	A	G	17: 37,422,205 (GRCm39)	V223A	probably damaging	Het
Or2t46	T	C	11: 58,472,104 (GRCm39)	C145R	probably benign	Het
Or51ac3	T	G	7: 103,214,049 (GRCm39)	I146L	probably benign	Het
Or5p81	T	C	7: 108,266,626 (GRCm39)	M1T	probably null	Het
Paqr4	A	G	17: 23,958,939 (GRCm39)	F21L	probably damaging	Het
Pcdha9	A	G	18: 37,131,527 (GRCm39)	T199A	probably benign	Het
Pcdhgb7	T	C	18: 37,884,917 (GRCm39)	L29P	probably benign	Het
Pfkl	G	A	10: 77,831,172 (GRCm39)	A323V	probably damaging	Het
Pik3r4	C	A	9: 105,528,041 (GRCm39)	P465T	probably damaging	Het
Pitpnm2	A	G	5: 124,274,189 (GRCm39)	S307P	probably damaging	Het
Pitpnm2	A	G	5: 124,278,659 (GRCm39)	Y191H	probably damaging	Het
Plod3	G	A	5: 137,023,036 (GRCm39)	V613I	probably benign	Het
Prr23a2	C	T	9: 98,738,921 (GRCm39)	T93I	probably damaging	Het
Ptk6	T	A	2: 180,840,206 (GRCm39)	M267L	possibly damaging	Het
Rabl6	C	T	2: 25,492,432 (GRCm39)		probably null	Het
Ralgapa2	T	C	2: 146,254,058 (GRCm39)	H787R	probably benign	Het
Rfx8	T	G	1: 39,724,669 (GRCm39)	M231L	probably benign	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Smpd4	A	G	16: 17,459,451 (GRCm39)	I625V	probably benign	Het
Tcf7l1	A	G	6: 72,765,740 (GRCm39)	S66P	probably damaging	Het
Tsc22d1	G	A	14: 76,743,899 (GRCm39)	V1007M	probably damaging	Het
Tspoap1	C	T	11: 87,665,535 (GRCm39)	R758C	probably damaging	Het
Vmn1r210	A	C	13: 23,011,397 (GRCm39)	H296Q	possibly damaging	Het
Zfp532	G	A	18: 65,818,714 (GRCm39)	V857I	probably benign	Het
Zfyve9	T	C	4: 108,501,538 (GRCm39)	T593A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- AGGTCCTGGGTAGAAATGGTCC -3'
(R):5'- CCATTCCATTTCAGGGTGATCC -3'

Sequencing Primer
(F):5'- CCTGGGTAGAAATGGTCCTTACTG -3'
(R):5'- GGACCCTTGGCACCCAAAG -3'

Posted On

2022-05-16