Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02994:Nsg1'

407074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nsg1

Ensembl Gene

ENSMUSG00000029126

Gene Name

neuron specific gene family member 1

Synonyms

m234, p21, NEEP21

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

38294537-38317087 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 38312946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031009] [ENSMUST00000201134] [ENSMUST00000201341] [ENSMUST00000201363] [ENSMUST00000201415]

AlphaFold

Q62092

Predicted Effect

probably benign
Transcript: ENSMUST00000031009

SMART Domains

Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	180	1.2e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201134

Predicted Effect

probably benign
Transcript: ENSMUST00000201341

SMART Domains

Protein: ENSMUSP00000144641
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	117	5.4e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201363

SMART Domains

Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	180	1.2e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201415

SMART Domains

Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126

Domain	Start	End	E-Value	Type
Pfam:Calcyon	1	47	7.5e-19	PFAM
Pfam:Calcyon	43	141	1e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202831

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,186,602 (GRCm39)		probably benign	Het
Ahnak2	A	G	12: 112,749,827 (GRCm39)	V137A	probably damaging	Het
Alk	G	T	17: 72,256,815 (GRCm39)	F681L	probably benign	Het
Ankrd35	T	C	3: 96,590,307 (GRCm39)		probably benign	Het
Aqp3	A	T	4: 41,093,614 (GRCm39)	C267S	probably benign	Het
Arl13b	T	A	16: 62,632,366 (GRCm39)	I76F	probably damaging	Het
Ccn2	T	A	10: 24,472,763 (GRCm39)	N224K	probably damaging	Het
Cdc42bpa	G	T	1: 179,827,002 (GRCm39)	R85L	probably damaging	Het
Dock4	T	G	12: 40,829,159 (GRCm39)	I1015R	probably damaging	Het
Dst	A	G	1: 34,268,333 (GRCm39)		probably benign	Het
Egfr	T	C	11: 16,861,811 (GRCm39)	Y1197H	probably damaging	Het
Endod1	A	G	9: 14,268,183 (GRCm39)	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,607,287 (GRCm39)		probably benign	Het
Fgg	G	T	3: 82,915,781 (GRCm39)	R74L	probably benign	Het
Fmo2	A	T	1: 162,708,189 (GRCm39)	D315E	probably damaging	Het
H2-M3	G	A	17: 37,581,629 (GRCm39)	S97N	probably benign	Het
Ighv14-2	T	A	12: 113,958,211 (GRCm39)	T77S	probably benign	Het
Klhl9	A	T	4: 88,639,434 (GRCm39)	L269*	probably null	Het
Lin37	G	A	7: 30,256,585 (GRCm39)	R84W	probably damaging	Het
Macroh2a1	T	C	13: 56,252,112 (GRCm39)		probably benign	Het
Mkln1	T	C	6: 31,467,378 (GRCm39)	S31P	probably damaging	Het
Nacad	A	G	11: 6,549,528 (GRCm39)	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,447,053 (GRCm39)	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,585,469 (GRCm39)	I161T	probably damaging	Het
Rsbn1l	G	T	5: 21,113,232 (GRCm39)	T430K	probably damaging	Het
Serpina6	A	G	12: 103,620,210 (GRCm39)	S180P	probably benign	Het
Slc4a5	T	C	6: 83,249,106 (GRCm39)	L570P	probably damaging	Het
Tank	A	G	2: 61,480,636 (GRCm39)		probably benign	Het
Tpd52	A	G	3: 9,012,590 (GRCm39)	F76L	probably benign	Het
Ubox5	A	C	2: 130,442,237 (GRCm39)	L150R	probably benign	Het
Zfp710	T	C	7: 79,731,581 (GRCm39)	S253P	probably benign	Het

Other mutations in Nsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Nsg1	APN	5	38,302,060 (GRCm39)	missense	probably damaging	0.99
IGL01646:Nsg1	APN	5	38,313,035 (GRCm39)	missense	probably damaging	1.00
IGL02152:Nsg1	APN	5	38,302,145 (GRCm39)	missense	probably benign	0.02
IGL02393:Nsg1	APN	5	38,316,255 (GRCm39)	missense	probably damaging	1.00
R0089:Nsg1	UTSW	5	38,312,974 (GRCm39)	missense	probably benign	0.45
R0102:Nsg1	UTSW	5	38,316,254 (GRCm39)	missense	probably damaging	0.99
R0102:Nsg1	UTSW	5	38,316,254 (GRCm39)	missense	probably damaging	0.99
R1443:Nsg1	UTSW	5	38,312,987 (GRCm39)	missense	probably benign	0.00
R1611:Nsg1	UTSW	5	38,296,060 (GRCm39)	nonsense	probably null
R4825:Nsg1	UTSW	5	38,316,391 (GRCm39)	unclassified	probably benign
R9144:Nsg1	UTSW	5	38,302,088 (GRCm39)	missense	probably benign	0.30

Posted On

2016-08-02