Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00897:Nsg1'

27373

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 #

IGL00897

Quality Score

Status

Chromosome

Chromosomal Location

38294537-38317087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38302060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 117 (V117D)

Ref Sequence

ENSEMBL: ENSMUSP00000144396 (fasta)

Gene Model

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

AlphaFold

Q62092

Predicted Effect

probably damaging
Transcript: ENSMUST00000031009
AA Change: V117D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031009
Gene: ENSMUSG00000029126
AA Change: V117D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201341
AA Change: V117D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144641
Gene: ENSMUSG00000029126
AA Change: V117D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201363
AA Change: V117D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144396
Gene: ENSMUSG00000029126
AA Change: V117D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000201415
AA Change: V78D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143921
Gene: ENSMUSG00000029126
AA Change: V78D

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,815,348 (GRCm39)		probably benign	Het
Arsi	A	G	18: 61,045,502 (GRCm39)	Y64C	probably damaging	Het
Ascc3	A	T	10: 50,604,187 (GRCm39)	E1302D	probably benign	Het
Aspm	T	C	1: 139,405,145 (GRCm39)	I1344T	probably damaging	Het
Atp2b1	T	C	10: 98,850,882 (GRCm39)	I924T	possibly damaging	Het
Ccnb1	A	G	13: 100,922,419 (GRCm39)		probably benign	Het
Cps1	A	G	1: 67,254,723 (GRCm39)	D1304G	probably benign	Het
Ctsq	C	A	13: 61,185,539 (GRCm39)	V201F	probably damaging	Het
Efcab3	G	A	11: 104,990,847 (GRCm39)	D293N	probably damaging	Het
Epb41	T	A	4: 131,727,508 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,180,078 (GRCm39)	E1421G	probably damaging	Het
Flt1	T	A	5: 147,526,664 (GRCm39)	Y873F	probably benign	Het
Fos	C	T	12: 85,523,120 (GRCm39)	T344I	probably damaging	Het
Gsdme	A	G	6: 50,206,264 (GRCm39)		probably null	Het
Inpp5d	A	G	1: 87,639,836 (GRCm39)	T846A	probably benign	Het
Insyn2b	T	C	11: 34,353,011 (GRCm39)	V351A	probably benign	Het
Kdm4c	T	C	4: 74,291,921 (GRCm39)	M846T	probably damaging	Het
Lrp2	A	G	2: 69,352,225 (GRCm39)	F604L	possibly damaging	Het
Mab21l3	C	A	3: 101,730,771 (GRCm39)	R156L	probably damaging	Het
Mrps9	A	G	1: 42,944,619 (GRCm39)	E379G	probably damaging	Het
Myo16	T	C	8: 10,365,518 (GRCm39)	L119P	probably damaging	Het
Neurod2	C	T	11: 98,218,595 (GRCm39)	V190M	probably damaging	Het
Nprl2	T	G	9: 107,422,727 (GRCm39)	N371K	probably benign	Het
Nr1d2	A	T	14: 18,214,993 (GRCm38)	C340S	probably benign	Het
Or6c219	A	T	10: 129,781,780 (GRCm39)	D50E	possibly damaging	Het
Or7e168	T	G	9: 19,719,917 (GRCm39)	V101G	probably damaging	Het
Paqr4	T	C	17: 23,956,544 (GRCm39)	D273G	possibly damaging	Het
Plcb4	A	G	2: 135,813,718 (GRCm39)	T686A	probably benign	Het
Ppp1r8	G	A	4: 132,555,213 (GRCm39)	A335V	probably damaging	Het
Slc4a2	T	A	5: 24,634,557 (GRCm39)	Y65*	probably null	Het
Slco3a1	A	T	7: 74,153,931 (GRCm39)	Y214N	probably damaging	Het
Tmem232	T	C	17: 65,563,569 (GRCm39)	E608G	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,019 (GRCm39)	Y137F	probably damaging	Het
Vmn2r97	T	C	17: 19,167,921 (GRCm39)	I725T	probably benign	Het
Vmn2r98	T	A	17: 19,286,007 (GRCm39)		probably benign	Het

Other mutations in Nsg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02994:Nsg1	APN	5	38,312,946 (GRCm39)	intron	probably benign
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

2013-04-17