Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02386:Ntan1'

291541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ntan1

Ensembl Gene

ENSMUSG00000022681

Gene Name

N-terminal Asn amidase

Synonyms

asparagine-specific N-terminal amidase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02386

Quality Score

Status

Chromosome

Chromosomal Location

13636709-13653315 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13653063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 273 (M273K)

Ref Sequence

ENSEMBL: ENSMUSP00000023362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023361] [ENSMUST00000023362] [ENSMUST00000115804] [ENSMUST00000115805]

AlphaFold

Q64311

Predicted Effect

probably benign
Transcript: ENSMUST00000023361

SMART Domains

Protein: ENSMUSP00000023361
Gene: ENSMUSG00000022680

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	166	310	2.6e-12	PFAM
coiled coil region	610	631	N/A	INTRINSIC
low complexity region	683	695	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000023362
AA Change: M273K

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681
AA Change: M273K

Domain	Start	End	E-Value	Type
Pfam:N_Asn_amidohyd	36	304	1.3e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115804

SMART Domains

Protein: ENSMUSP00000111471
Gene: ENSMUSG00000022680

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	154	308	5.5e-15	PFAM
coiled coil region	610	631	N/A	INTRINSIC
low complexity region	683	695	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115805
AA Change: M235K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111472
Gene: ENSMUSG00000022681
AA Change: M235K

Domain	Start	End	E-Value	Type
Pfam:N_Asn_amidohyd	32	215	1.4e-82	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145248

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene functions in a step-wise protein degradation process through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asparagine residues on proteins to produce N-terminal L-Aspartate. L-Aspartate substrates are subsequently conjugated to L-Arginine, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Mice with a knock-out of this gene are viable, fertile, and outwardly normal, but show impairments in spontaneous activity and spatial memory, relative to their wild-type counterparts. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutant mice exhibit behavioral and learning defects including abnormal spontaneous activity, impaired spatial memory, and reduced exploratory activity in the presence of conspecifics. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,953,472 (GRCm39)		noncoding transcript	Het
Abhd17b	T	C	19: 21,658,263 (GRCm39)	Y167H	possibly damaging	Het
Ablim1	T	C	19: 57,123,086 (GRCm39)	D167G	probably damaging	Het
Bpnt1	G	T	1: 185,070,372 (GRCm39)	K21N	probably damaging	Het
Cables2	A	G	2: 179,903,431 (GRCm39)	V251A	probably benign	Het
Cyp2b13	T	C	7: 25,785,438 (GRCm39)	L269P	probably damaging	Het
Dhodh	A	G	8: 110,321,396 (GRCm39)	I330T	probably damaging	Het
Dnah5	T	A	15: 28,340,527 (GRCm39)	D2311E	probably damaging	Het
Dph1	T	C	11: 75,074,428 (GRCm39)	D128G	probably benign	Het
Dsg1c	T	A	18: 20,410,056 (GRCm39)	I508N	probably benign	Het
Eftud2	T	C	11: 102,742,580 (GRCm39)		probably null	Het
Fstl4	T	A	11: 52,664,698 (GRCm39)	H9Q	probably benign	Het
Glra3	A	T	8: 56,542,063 (GRCm39)	M269L	probably benign	Het
Gpatch8	C	A	11: 102,398,983 (GRCm39)	R83L	unknown	Het
Gss	A	G	2: 155,415,090 (GRCm39)	V205A	probably benign	Het
Ifi30	A	G	8: 71,217,405 (GRCm39)		probably benign	Het
Itch	T	A	2: 155,044,181 (GRCm39)	Y495*	probably null	Het
Lilrb4a	C	T	10: 51,367,322 (GRCm39)	Q22*	probably null	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Myh8	T	A	11: 67,185,266 (GRCm39)	I839N	probably damaging	Het
Myo7a	C	T	7: 97,724,319 (GRCm39)	G1122E	probably damaging	Het
Numa1	A	G	7: 101,656,739 (GRCm39)	K1548R	probably benign	Het
Obsl1	A	G	1: 75,469,161 (GRCm39)	V1260A	probably damaging	Het
Or4b12	T	A	2: 90,096,295 (GRCm39)	I160F	probably damaging	Het
Or4c10	T	C	2: 89,760,888 (GRCm39)	V245A	probably damaging	Het
Pde10a	A	G	17: 9,172,636 (GRCm39)	S669G	possibly damaging	Het
Ppargc1b	T	C	18: 61,456,222 (GRCm39)	D79G	probably damaging	Het
Rnf103	A	G	6: 71,486,202 (GRCm39)	T278A	probably benign	Het
Slc22a4	C	A	11: 53,879,598 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,494,386 (GRCm39)	M833K	possibly damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Susd2	A	T	10: 75,475,929 (GRCm39)	Y357N	probably damaging	Het
Syne4	C	A	7: 30,015,659 (GRCm39)	S91Y	possibly damaging	Het
Tgfbrap1	C	A	1: 43,114,981 (GRCm39)	G40C	probably damaging	Het
Tial1	A	G	7: 128,050,069 (GRCm39)	S94P	probably damaging	Het
Tle3	A	G	9: 61,301,941 (GRCm39)	T117A	possibly damaging	Het
Usp48	A	C	4: 137,331,834 (GRCm39)	R73S	possibly damaging	Het
Utrn	G	T	10: 12,297,352 (GRCm39)	D685E	possibly damaging	Het

Other mutations in Ntan1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01627:Ntan1	APN	16	13,652,603 (GRCm39)	missense	probably benign	0.00
IGL01874:Ntan1	APN	16	13,653,077 (GRCm39)	missense	probably benign	0.00
IGL02113:Ntan1	APN	16	13,653,008 (GRCm39)	missense	probably damaging	1.00
IGL02485:Ntan1	APN	16	13,652,540 (GRCm39)	intron	probably benign
IGL03200:Ntan1	APN	16	13,652,591 (GRCm39)	missense	probably damaging	1.00
R7038:Ntan1	UTSW	16	13,644,774 (GRCm39)	missense	probably benign
R9570:Ntan1	UTSW	16	13,637,248 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-04-16