Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01874:Ntan1'

178822

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 #

IGL01874

Quality Score

Status

Chromosome

Chromosomal Location

13636709-13653315 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13653077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 278 (F278L)

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: F278L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023362
Gene: ENSMUSG00000022681
AA Change: F278L

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: F240L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111472
Gene: ENSMUSG00000022681
AA Change: F240L

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: ENSMUST00000148848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136618

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,916,823 (GRCm39)	V723D	possibly damaging	Het
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Aox4	T	C	1: 58,291,243 (GRCm39)	L787S	probably damaging	Het
Atp2c1	A	C	9: 105,326,024 (GRCm39)	V293G	probably damaging	Het
Ccnb1	T	C	13: 100,920,001 (GRCm39)	D170G	probably damaging	Het
Cdc42	T	C	4: 137,063,381 (GRCm39)	I4V	probably benign	Het
Clip1	T	C	5: 123,741,729 (GRCm39)	Q1175R	possibly damaging	Het
Cox6a1	A	G	5: 115,483,904 (GRCm39)	*113Q	probably null	Het
Crtc2	C	T	3: 90,165,815 (GRCm39)	P139L	probably damaging	Het
Cyp8b1	A	T	9: 121,744,969 (GRCm39)	M121K	possibly damaging	Het
D630003M21Rik	C	A	2: 158,046,644 (GRCm39)	G778C	probably damaging	Het
Dgat1	A	G	15: 76,387,241 (GRCm39)	F349L	probably damaging	Het
Enox1	A	G	14: 77,816,602 (GRCm39)	Y194C	probably damaging	Het
Fam120b	T	A	17: 15,623,301 (GRCm39)	C426*	probably null	Het
Fxyd3	A	G	7: 30,770,318 (GRCm39)		probably benign	Het
Gin1	A	G	1: 97,710,797 (GRCm39)	Y160C	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,973 (GRCm39)		noncoding transcript	Het
Gucy1a2	T	C	9: 3,797,343 (GRCm39)	S598P	probably damaging	Het
Hook3	T	A	8: 26,529,760 (GRCm39)	N199Y	possibly damaging	Het
Il10ra	A	G	9: 45,178,458 (GRCm39)	L41P	probably damaging	Het
Itgam	C	T	7: 127,714,338 (GRCm39)	T949I	probably damaging	Het
Kctd3	A	G	1: 188,729,188 (GRCm39)	V123A	probably damaging	Het
Krt84	G	A	15: 101,436,239 (GRCm39)	A450V	probably damaging	Het
Lrrc7	G	A	3: 157,946,080 (GRCm39)		probably benign	Het
Nckap1	A	G	2: 80,355,980 (GRCm39)	F608L	probably damaging	Het
Niban2	A	T	2: 32,795,779 (GRCm39)		probably null	Het
Nmbr	A	T	10: 14,642,696 (GRCm39)	Y85F	probably benign	Het
Nol6	A	C	4: 41,115,412 (GRCm39)	L1135R	probably damaging	Het
Or2n1e	T	A	17: 38,586,408 (GRCm39)	S249T	probably benign	Het
Pcsk5	T	A	19: 17,573,041 (GRCm39)	T474S	probably damaging	Het
Pex11b	T	A	3: 96,550,883 (GRCm39)		probably null	Het
Pkhd1	G	T	1: 20,173,459 (GRCm39)	A3786E	probably benign	Het
Prkdc	T	C	16: 15,552,858 (GRCm39)	I2098T	possibly damaging	Het
Prl2c5	T	A	13: 13,365,362 (GRCm39)	S169R	probably benign	Het
Ptbp2	A	G	3: 119,541,449 (GRCm39)	V196A	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,060,185 (GRCm39)	N114D	probably benign	Het
Slc47a2	T	A	11: 61,203,685 (GRCm39)		probably null	Het
Srcin1	A	T	11: 97,423,924 (GRCm39)	M684K	possibly damaging	Het
Sspo	T	A	6: 48,429,124 (GRCm39)	C298S	probably damaging	Het
Tenm3	G	T	8: 48,689,793 (GRCm39)	Y1915*	probably null	Het
Tnks1bp1	A	G	2: 84,888,791 (GRCm39)	T373A	probably benign	Het
Trp63	A	C	16: 25,701,335 (GRCm39)	N470H	possibly damaging	Het
Ttn	T	C	2: 76,628,907 (GRCm39)	N12703S	probably damaging	Het
Ubr4	T	C	4: 139,120,600 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,449,602 (GRCm39)	Y212F	probably benign	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
IGL02113:Ntan1	APN	16	13,653,008 (GRCm39)	missense	probably damaging	1.00
IGL02386:Ntan1	APN	16	13,653,063 (GRCm39)	missense	probably benign	0.12
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

2014-05-07