Mutagenetix > Incidental Mutation

Incidental Mutation 'R9116:Nthl1'

692568

Institutional Source

Beutler Lab

Gene Symbol

Nthl1

Ensembl Gene

ENSMUSG00000041429

Gene Name

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

Synonyms

Nth1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9116 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24851654-24857811 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 24853753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 133 (Q133*)

Ref Sequence

ENSEMBL: ENSMUSP00000047413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002572] [ENSMUST00000019684] [ENSMUST00000047611] [ENSMUST00000097373] [ENSMUST00000226284] [ENSMUST00000226398] [ENSMUST00000227509] [ENSMUST00000227607] [ENSMUST00000227745] [ENSMUST00000228412]

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 null
Transcript: ENSMUST00000047611
AA Change: Q133*

SMART Domains

Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
AA Change: Q133*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000097373

SMART Domains

Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496

Domain	Start	End	E-Value	Type
Pfam:DUF3384	54	470	4e-103	PFAM
Pfam:Tuberin	555	903	5.9e-149	PFAM
low complexity region	1023	1054	N/A	INTRINSIC
low complexity region	1271	1278	N/A	INTRINSIC
low complexity region	1310	1328	N/A	INTRINSIC
low complexity region	1330	1344	N/A	INTRINSIC
low complexity region	1378	1398	N/A	INTRINSIC
Pfam:Rap_GAP	1497	1685	1.3e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226284

Predicted Effect

probably benign
Transcript: ENSMUST00000226398

Predicted Effect

probably benign
Transcript: ENSMUST00000227509

Predicted Effect

probably benign
Transcript: ENSMUST00000227607

Predicted Effect

probably benign
Transcript: ENSMUST00000227745

Predicted Effect

probably benign
Transcript: ENSMUST00000228412

Coding Region Coverage

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

Validation Efficiency

100% (76/76)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,973 (GRCm39)	L689Q		Het
Abcc2	G	A	19: 43,793,391 (GRCm39)	V348M	probably benign	Het
Abhd5	T	C	9: 122,196,992 (GRCm39)	S60P	probably benign	Het
Adamts10	C	A	17: 33,756,330 (GRCm39)	H324Q	probably benign	Het
Akap1	A	G	11: 88,723,165 (GRCm39)	L823P	probably damaging	Het
Aoc1	G	A	6: 48,885,522 (GRCm39)	V676I	probably damaging	Het
Arhgef12	T	C	9: 42,893,241 (GRCm39)		probably benign	Het
Arl4d	A	C	11: 101,557,620 (GRCm39)	S49R	possibly damaging	Het
Atr	A	G	9: 95,747,851 (GRCm39)	I378V	probably benign	Het
Bicd1	G	A	6: 149,385,674 (GRCm39)	V136I	probably benign	Het
Brd1	A	T	15: 88,585,374 (GRCm39)	L820H	possibly damaging	Het
Cfap70	T	C	14: 20,497,590 (GRCm39)	T55A	probably benign	Het
Cog7	G	T	7: 121,570,561 (GRCm39)	N182K	probably damaging	Het
Col4a4	T	A	1: 82,431,752 (GRCm39)	T1511S	unknown	Het
Cr2	A	T	1: 194,840,977 (GRCm39)	Y438*	probably null	Het
Ctnnbl1	T	A	2: 157,648,623 (GRCm39)	V198E	probably damaging	Het
Fam117b	C	T	1: 60,018,456 (GRCm39)	Q58*	probably null	Het
Fam171a2	A	G	11: 102,330,519 (GRCm39)	Y288H	probably damaging	Het
Fam186a	A	T	15: 99,840,472 (GRCm39)	I1924K	possibly damaging	Het
Fancd2	A	G	6: 113,532,180 (GRCm39)	I498V	probably benign	Het
Fat3	T	A	9: 15,909,421 (GRCm39)	I2194F	probably benign	Het
Flg2	T	C	3: 93,109,591 (GRCm39)	S540P	unknown	Het
Gbp9	T	C	5: 105,231,695 (GRCm39)	Y297C		Het
Gck	T	G	11: 5,854,377 (GRCm39)	N283H	possibly damaging	Het
Gm13941	A	T	2: 110,935,146 (GRCm39)	L28Q	unknown	Het
Gpr155	A	G	2: 73,204,109 (GRCm39)	I235T	possibly damaging	Het
Junb	A	C	8: 85,704,052 (GRCm39)	L336R	probably damaging	Het
Krt14	A	T	11: 100,095,904 (GRCm39)	M218K	probably benign	Het
Leprotl1	A	G	8: 34,604,967 (GRCm39)	V102A	probably benign	Het
Lrrc8d	T	C	5: 105,961,908 (GRCm39)	F773L	probably damaging	Het
Mad2l1bp	G	A	17: 46,458,958 (GRCm39)	R191C	probably damaging	Het
Man1c1	C	T	4: 134,311,705 (GRCm39)	V274M	possibly damaging	Het
Mtor	C	A	4: 148,637,198 (GRCm39)	P2466T	probably benign	Het
Mycbpap	C	A	11: 94,398,032 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,153,593 (GRCm39)	V121M	probably damaging	Het
Myo18b	T	C	5: 112,975,862 (GRCm39)	E1329G	probably damaging	Het
Nipbl	A	T	15: 8,380,340 (GRCm39)	D817E	probably benign	Het
Nup133	A	G	8: 124,660,155 (GRCm39)	M381T	probably benign	Het
Or13c7	T	C	4: 43,854,602 (GRCm39)	C98R	probably damaging	Het
Or2j3	T	C	17: 38,615,654 (GRCm39)	T233A	probably benign	Het
Or51t4	T	C	7: 102,598,527 (GRCm39)	I285T	possibly damaging	Het
Or7e175	T	C	9: 20,048,633 (GRCm39)	Y74H	probably damaging	Het
Or7g20	T	C	9: 18,946,773 (GRCm39)	M118T	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Pmpcb	A	T	5: 21,961,608 (GRCm39)	I422F	probably damaging	Het
Prpf8	T	A	11: 75,380,589 (GRCm39)	H97Q	possibly damaging	Het
Psat1	A	G	19: 15,898,332 (GRCm39)	L30P	probably damaging	Het
Rag1	T	C	2: 101,472,820 (GRCm39)	D774G	probably damaging	Het
Rag1	C	T	2: 101,475,137 (GRCm39)	A2T	probably benign	Het
Rccd1	G	T	7: 79,970,728 (GRCm39)	F17L	probably damaging	Het
Rhobtb1	T	A	10: 69,106,579 (GRCm39)	D443E	probably damaging	Het
Rnf13	A	G	3: 57,709,866 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,587,185 (GRCm39)	S4699P	possibly damaging	Het
Scart1	A	G	7: 139,808,277 (GRCm39)	T754A	probably benign	Het
Sdc3	T	C	4: 130,546,352 (GRCm39)	V237A	probably benign	Het
Serinc5	T	A	13: 92,797,514 (GRCm39)		probably benign	Het
Sertad4	A	G	1: 192,528,973 (GRCm39)	I281T	probably benign	Het
Shroom1	T	C	11: 53,354,490 (GRCm39)	S137P	probably damaging	Het
Slurp1	C	T	15: 74,599,450 (GRCm39)	G20D	probably damaging	Het
Sncb	T	A	13: 54,910,512 (GRCm39)	N75Y	probably damaging	Het
Spag8	C	T	4: 43,653,231 (GRCm39)	G77S	unknown	Het
Spink14	A	T	18: 44,164,059 (GRCm39)	I76F	probably damaging	Het
Srfbp1	A	T	18: 52,623,102 (GRCm39)	E372D	possibly damaging	Het
Synpo	A	T	18: 60,735,599 (GRCm39)	N782K	probably damaging	Het
Syt7	T	C	19: 10,421,373 (GRCm39)	M519T	probably damaging	Het
Tlr5	C	T	1: 182,802,160 (GRCm39)	P488L	probably benign	Het
Tmod3	A	T	9: 75,412,202 (GRCm39)	I315N	probably damaging	Het
Ttc12	T	C	9: 49,364,757 (GRCm39)	M340V	probably benign	Het
Ttn	T	A	2: 76,710,959 (GRCm39)	I8392F	unknown	Het
Ttn	A	G	2: 76,769,232 (GRCm39)	V2822A	unknown	Het
Ube3b	C	T	5: 114,542,837 (GRCm39)		probably benign	Het
Ubr4	C	A	4: 139,145,785 (GRCm39)	N238K		Het
Vmn2r12	T	C	5: 109,233,885 (GRCm39)	T776A	probably damaging	Het
Vps50	G	A	6: 3,588,091 (GRCm39)		probably benign	Het
Vwa3a	A	G	7: 120,366,470 (GRCm39)	D165G		Het
Wdr17	T	A	8: 55,114,605 (GRCm39)	H644L	probably damaging	Het
Zfp628	T	C	7: 4,924,202 (GRCm39)	V808A	probably benign	Het
Zscan21	T	A	5: 138,123,937 (GRCm39)	D205E	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
R7043:Nthl1	UTSW	17	24,857,644 (GRCm39)	missense	probably benign	0.30
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

Predicted Primers

PCR Primer
(F):5'- TCCATCCCATACAAGGTATGATTCC -3'
(R):5'- GGATAGACCTGTGGCAAGTCAG -3'

Sequencing Primer
(F):5'- GGTATGATTCCAAGCAATTCATCC -3'
(R):5'- AAGCATGAAGAGTCTCTGTCGTC -3'

Posted On

2021-12-30