Mutagenetix > Incidental Mutation

Incidental Mutation 'R7043:Nthl1'

547185

Institutional Source

Beutler Lab

Gene Symbol

Nthl1

Ensembl Gene

ENSMUSG00000041429

Gene Name

nth (endonuclease III)-like 1 (E.coli)

Synonyms

Nth1

MMRRC Submission

045142-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24851654-24857811 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24857644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 281 (V281G)

Ref Sequence

ENSEMBL: ENSMUSP00000047413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611]

AlphaFold

O35980

Predicted Effect

probably benign
Transcript: ENSMUST00000002572

SMART Domains

Protein: ENSMUSP00000002572
Gene: ENSMUSG00000002504

Domain	Start	End	E-Value	Type
PDZ	19	91	6.31e-21	SMART
PDZ	159	231	8.79e-20	SMART
Pfam:EBP50_C	232	284	5.1e-13	PFAM
Pfam:EBP50_C	261	337	2.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019684

SMART Domains

Protein: ENSMUSP00000019684
Gene: ENSMUSG00000002504

Domain	Start	End	E-Value	Type
PDZ	48	120	8.79e-20	SMART
Pfam:EBP50_C-term	186	226	2.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047611
AA Change: V281G

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
AA Change: V281G

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
low complexity region	24	37	N/A	INTRINSIC
low complexity region	55	68	N/A	INTRINSIC
ENDO3c	126	276	1.06e-58	SMART
FES	277	297	4.82e-3	SMART

Meta Mutation Damage Score

0.2744

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit slower hepatic repair of thymine glycol DNA lesions after treatment with X-rays. Mutants are overtly normal, long-lived, and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,484,474 (GRCm39)	L1596P	probably damaging	Het
Actr3b	A	G	5: 26,054,936 (GRCm39)	M329V	probably benign	Het
Avpr1a	C	T	10: 122,285,586 (GRCm39)	R293C	probably damaging	Het
Bdp1	A	T	13: 100,215,215 (GRCm39)	C390S	probably benign	Het
C2cd2l	A	T	9: 44,227,848 (GRCm39)	M131K	probably damaging	Het
Ccna2	T	C	3: 36,624,302 (GRCm39)		probably benign	Het
Cd53	T	C	3: 106,670,577 (GRCm39)	D152G	probably damaging	Het
Cdpf1	A	T	15: 85,692,485 (GRCm39)	V66E	probably null	Het
Chd9	G	T	8: 91,760,843 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,818,447 (GRCm39)	D1710G	probably benign	Het
Dst	A	G	1: 34,296,992 (GRCm39)	T5794A	probably damaging	Het
Eif2s1	G	T	12: 78,923,882 (GRCm39)	R113L	probably damaging	Het
Eif5	A	G	12: 111,511,030 (GRCm39)	D423G	probably benign	Het
Eri1	A	C	8: 35,945,792 (GRCm39)	D164E	probably damaging	Het
F7	A	T	8: 13,083,997 (GRCm39)	R227S	probably benign	Het
Gm14496	T	G	2: 181,642,120 (GRCm39)	I597S	possibly damaging	Het
Gpr85	T	A	6: 13,835,876 (GRCm39)	N343Y	probably damaging	Het
H2-T23	A	T	17: 36,342,803 (GRCm39)	S112T	probably damaging	Het
Itga9	C	T	9: 118,598,184 (GRCm39)	P573S	probably damaging	Het
Kcnb2	A	T	1: 15,383,150 (GRCm39)	M159L	probably benign	Het
Kmt5b	T	A	19: 3,865,220 (GRCm39)	S738R	possibly damaging	Het
Lrp1b	T	C	2: 40,812,426 (GRCm39)	N2393S	possibly damaging	Het
Mme	T	A	3: 63,252,638 (GRCm39)	Y427*	probably null	Het
Naip1	A	G	13: 100,563,422 (GRCm39)	V581A	probably damaging	Het
Ndel1	A	G	11: 68,713,450 (GRCm39)	L329P	possibly damaging	Het
Or52ab2	C	A	7: 102,970,292 (GRCm39)		probably benign	Het
Per2	G	T	1: 91,347,130 (GRCm39)	H1197Q	probably benign	Het
Phf8-ps	T	C	17: 33,284,306 (GRCm39)	D832G	possibly damaging	Het
Plec	G	A	15: 76,093,328 (GRCm39)		probably benign	Het
Prpf6	A	T	2: 181,291,297 (GRCm39)	H704L	probably benign	Het
Recql5	C	T	11: 115,821,502 (GRCm39)		probably null	Het
Rimbp3	G	A	16: 17,028,972 (GRCm39)	V799M	probably damaging	Het
Sema3f	C	T	9: 107,568,599 (GRCm39)	A169T	possibly damaging	Het
Serpinb9f	T	C	13: 33,509,970 (GRCm39)	I54T	possibly damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc35g3	T	C	11: 69,652,476 (GRCm39)	D12G	probably benign	Het
Sptbn1	A	G	11: 30,053,323 (GRCm39)	V2252A	probably benign	Het
Stab2	T	C	10: 86,706,110 (GRCm39)	N1750S	probably damaging	Het
Supt5	C	A	7: 28,019,435 (GRCm39)	R543L	probably benign	Het
Syne1	T	C	10: 5,022,193 (GRCm39)	E7806G	possibly damaging	Het
Syt12	T	A	19: 4,501,049 (GRCm39)	M334L	probably benign	Het
Tk1	A	G	11: 117,706,779 (GRCm39)	*234R	probably null	Het
Trp73	T	G	4: 154,151,464 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,727,477 (GRCm39)		probably benign	Het
Vmn2r11	T	C	5: 109,200,098 (GRCm39)	I452V	probably benign	Het
Wwox	G	T	8: 115,406,578 (GRCm39)	V190L	probably damaging	Het
Wwp2	A	G	8: 108,184,532 (GRCm39)	H80R	probably benign	Het
Zc3h3	A	G	15: 75,681,485 (GRCm39)	I532T	probably damaging	Het
Zfp280d	A	G	9: 72,226,539 (GRCm39)	K328E	probably damaging	Het
Zfp365	A	G	10: 67,745,656 (GRCm39)	S41P	probably damaging	Het

Other mutations in Nthl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01293:Nthl1	APN	17	24,857,683 (GRCm39)	missense	probably damaging	1.00
IGL01658:Nthl1	APN	17	24,853,819 (GRCm39)	missense	probably benign	0.02
IGL02573:Nthl1	APN	17	24,852,949 (GRCm39)	missense	probably benign	0.00
R6295:Nthl1	UTSW	17	24,857,475 (GRCm39)	missense	probably damaging	1.00
R6722:Nthl1	UTSW	17	24,853,008 (GRCm39)	missense	probably benign	0.00
R7392:Nthl1	UTSW	17	24,857,598 (GRCm39)	missense	probably benign
R7713:Nthl1	UTSW	17	24,857,631 (GRCm39)	missense	possibly damaging	0.77
R8514:Nthl1	UTSW	17	24,853,089 (GRCm39)	missense	probably damaging	1.00
R9116:Nthl1	UTSW	17	24,853,753 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATAGCCAACCGACTGAGGTG -3'
(R):5'- ACGGGCCAAGAAATCAACTGTG -3'

Sequencing Primer
(F):5'- CCGACTGAGGTGGACCAAG -3'
(R):5'- GTGAAAAACTTCCCAGGTTTATTGC -3'

Posted On

2019-05-13