Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:Neil1'

205179

Institutional Source

Beutler Lab

Gene Symbol

Neil1

Ensembl Gene

ENSMUSG00000032298

Gene Name

nei endonuclease VIII-like 1 (E. coli)

Synonyms

2810450N13Rik

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

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

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57050084-57055589 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 57053888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Cysteine at position 144 (F144C)

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: F144C

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

SMART Domains

Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298
AA Change: F144C

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: F144C

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

SMART Domains

Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298
AA Change: F144C

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: F144C

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

SMART Domains

Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298
AA Change: F144C

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: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,400,550 (GRCm39)	Y530N	probably damaging	Het
Adam4	T	C	12: 81,466,333 (GRCm39)	I763V	probably benign	Het
Aipl1	T	G	11: 71,921,325 (GRCm39)	K190T	possibly damaging	Het
Alms1	T	A	6: 85,655,485 (GRCm39)	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,027,136 (GRCm39)	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,338,444 (GRCm39)	S365R	probably benign	Het
Aox1	G	A	1: 58,348,150 (GRCm39)	A623T	probably benign	Het
Apc	T	A	18: 34,450,130 (GRCm39)	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,822,098 (GRCm39)	V501I	probably benign	Het
Baz2b	T	C	2: 59,732,163 (GRCm39)	E1994G	probably benign	Het
Bltp2	G	T	11: 78,178,576 (GRCm39)	V1993F	probably damaging	Het
Cacna1a	T	C	8: 85,307,986 (GRCm39)		probably null	Het
Cacna1h	C	A	17: 25,611,050 (GRCm39)	V583L	probably benign	Het
Cd55	T	C	1: 130,375,346 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,937,494 (GRCm39)	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,798,237 (GRCm39)	D1674V	probably benign	Het
Churc1	T	C	12: 76,820,071 (GRCm39)	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,986,604 (GRCm39)	I280T	probably benign	Het
Creb1	C	T	1: 64,590,109 (GRCm39)	Q32*	probably null	Het
Cyp2b9	A	G	7: 25,900,208 (GRCm39)	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813 (GRCm39)	R51G	probably damaging	Het
Ddb1	T	C	19: 10,603,957 (GRCm39)	V888A	probably damaging	Het
Disp1	A	G	1: 182,870,564 (GRCm39)	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,438,402 (GRCm39)	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,394,164 (GRCm39)	T143A	possibly damaging	Het
Eps8	T	A	6: 137,499,277 (GRCm39)	K204*	probably null	Het
Ercc5	T	A	1: 44,220,035 (GRCm39)	S1102R	probably benign	Het
Ergic2	T	A	6: 148,091,079 (GRCm39)	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,362,560 (GRCm39)	L274M	probably damaging	Het
Fat3	G	A	9: 15,909,384 (GRCm39)	T2206I	probably damaging	Het
Fat4	A	G	3: 39,037,720 (GRCm39)	I3791V	probably benign	Het
Gemin4	A	G	11: 76,104,122 (GRCm39)	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,025,723 (GRCm39)	M119V	probably benign	Het
Heatr5b	A	T	17: 79,080,992 (GRCm39)	L1420Q	probably damaging	Het
Herc2	G	T	7: 55,856,513 (GRCm39)	G3918*	probably null	Het
Ints9	A	G	14: 65,269,705 (GRCm39)	Y465C	probably damaging	Het
Ist1	A	G	8: 110,405,515 (GRCm39)	V175A	probably damaging	Het
Kcnj12	T	C	11: 60,960,383 (GRCm39)	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,536,611 (GRCm39)	S416G	probably benign	Het
Kdm3a	T	A	6: 71,590,940 (GRCm39)	T295S	probably benign	Het
Kif1c	T	A	11: 70,599,797 (GRCm39)	M479K	probably damaging	Het
Kif20b	T	C	19: 34,933,438 (GRCm39)	L83P	probably damaging	Het
Kndc1	A	G	7: 139,507,624 (GRCm39)	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,595,556 (GRCm39)	M81V	probably benign	Het
Map4k5	C	A	12: 69,871,436 (GRCm39)	M495I	probably damaging	Het
Mest	C	T	6: 30,742,790 (GRCm39)	R146C	probably benign	Het
Mettl24	T	A	10: 40,613,812 (GRCm39)		probably null	Het
Mical1	T	C	10: 41,359,531 (GRCm39)	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,239,694 (GRCm39)	Y77*	probably null	Het
Mss51	A	T	14: 20,533,246 (GRCm39)	C408*	probably null	Het
Myh6	T	C	14: 55,194,858 (GRCm39)	T666A	probably benign	Het
Myo10	T	C	15: 25,805,673 (GRCm39)	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,359,726 (GRCm39)	Y503*	probably null	Het
Nipbl	T	A	15: 8,373,001 (GRCm39)	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nt5el	C	A	13: 105,218,702 (GRCm39)	A12E	unknown	Het
Ntng2	G	A	2: 29,087,069 (GRCm39)	Q384*	probably null	Het
Ocrl	T	A	X: 47,050,993 (GRCm39)	I74N	probably damaging	Het
Or10j27	A	G	1: 172,958,382 (GRCm39)	V134A	probably benign	Het
Or13a22	A	G	7: 140,072,622 (GRCm39)	S24G	probably benign	Het
Or14j8	C	T	17: 38,263,276 (GRCm39)	G213E	possibly damaging	Het
Or1e22	A	C	11: 73,377,200 (GRCm39)	V150G	probably benign	Het
Or2j3	A	T	17: 38,616,203 (GRCm39)	S50T	probably benign	Het
Or2y1	A	T	11: 49,385,497 (GRCm39)	I46F	probably damaging	Het
Patj	A	G	4: 98,379,827 (GRCm39)	D151G	probably benign	Het
Plpbp	T	C	8: 27,539,259 (GRCm39)	V126A	probably damaging	Het
Pold2	A	G	11: 5,823,454 (GRCm39)	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,486,650 (GRCm39)	S480A	probably damaging	Het
Pum1	T	C	4: 130,428,359 (GRCm39)	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,014,925 (GRCm39)	G353A	probably damaging	Het
Reln	C	A	5: 22,184,000 (GRCm39)	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,266,071 (GRCm39)	I9V	probably benign	Het
Ryr2	T	C	13: 11,784,764 (GRCm39)	H1063R	probably benign	Het
Samd14	C	G	11: 94,914,426 (GRCm39)	D361E	probably damaging	Het
Samd15	A	T	12: 87,248,617 (GRCm39)	N365I	probably damaging	Het
Sec16b	A	G	1: 157,358,882 (GRCm39)	H105R	probably benign	Het
Sez6	T	C	11: 77,844,329 (GRCm39)	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,789,350 (GRCm39)	L236Q	probably damaging	Het
Sspo	C	T	6: 48,434,274 (GRCm39)	T991I	probably damaging	Het
Suco	A	T	1: 161,687,069 (GRCm39)	L97*	probably null	Het
Tab1	C	A	15: 80,032,497 (GRCm39)	R35S	probably benign	Het
Tet3	C	A	6: 83,381,145 (GRCm39)	S341I	possibly damaging	Het
Tlr1	A	T	5: 65,083,043 (GRCm39)	D511E	probably benign	Het
Tmem132b	A	C	5: 125,862,963 (GRCm39)	D656A	probably damaging	Het
Tmtc4	T	A	14: 123,179,400 (GRCm39)		probably null	Het
Trmo	T	C	4: 46,380,158 (GRCm39)	T404A	probably damaging	Het
Trpm1	A	G	7: 63,880,016 (GRCm39)	K790E	probably damaging	Het
Ulk4	C	A	9: 120,997,250 (GRCm39)	R774M	probably null	Het
Ush2a	C	T	1: 188,184,015 (GRCm39)	L1440F	probably benign	Het
Usp16	A	G	16: 87,277,795 (GRCm39)	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511 (GRCm39)	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,565,111 (GRCm39)	I255N	probably damaging	Het
Vmn2r61	A	T	7: 41,916,076 (GRCm39)	R230*	probably null	Het
Vps13c	T	A	9: 67,900,295 (GRCm39)	F3671L	probably benign	Het
Washc5	T	C	15: 59,231,189 (GRCm39)	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,058,899 (GRCm39)	K331E	probably damaging	Het
Zfp986	A	T	4: 145,625,805 (GRCm39)	K155I	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
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
R9439:Neil1	UTSW	9	57,051,098 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCACTGTGCAAGCTTGTTTC -3'
(R):5'- TCAGAAGCCACTGTCCCTTG -3'

Sequencing Primer
(F):5'- CACTGTGCAAGCTTGTTTCTTAAG -3'
(R):5'- GATGTCAGGATCCTTCCAGCTG -3'

Posted On

2014-06-23