Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02636:Nipsnap2'

301535

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipsnap2

Ensembl Gene

ENSMUSG00000029432

Gene Name

nipsnap homolog 2

Synonyms

Gbas, Nipsnap2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02636

Quality Score

Status

Chromosome

Chromosomal Location

129802127-129835391 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 129822354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086046] [ENSMUST00000124342] [ENSMUST00000186265] [ENSMUST00000195946]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000086046

SMART Domains

Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124342

SMART Domains

Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186265

SMART Domains

Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:NIPSNAP	182	279	2.8e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195946

SMART Domains

Protein: ENSMUSP00000142916
Gene: ENSMUSG00000029432

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,605,636 (GRCm39)	Q1960K	probably benign	Het
Arhgef40	T	A	14: 52,234,865 (GRCm39)	V1056E	probably damaging	Het
Cdh26	T	A	2: 178,091,755 (GRCm39)	F105I	probably damaging	Het
Cep162	A	T	9: 87,130,432 (GRCm39)	D59E	possibly damaging	Het
Cngb3	A	T	4: 19,396,690 (GRCm39)	T348S	probably damaging	Het
Eci3	A	T	13: 35,130,963 (GRCm39)		probably null	Het
Gapvd1	A	G	2: 34,615,416 (GRCm39)	I409T	probably benign	Het
Golga2	T	C	2: 32,186,735 (GRCm39)		probably null	Het
Hoxd3	G	A	2: 74,577,298 (GRCm39)	A393T	probably benign	Het
Htr5a	T	C	5: 28,047,658 (GRCm39)	F71S	probably damaging	Het
Hyou1	T	C	9: 44,292,707 (GRCm39)		probably null	Het
Igsf6	C	A	7: 120,666,503 (GRCm39)		probably benign	Het
Klrb1c	C	A	6: 128,765,515 (GRCm39)	C25F	probably benign	Het
Lrguk	C	A	6: 34,067,123 (GRCm39)	T483K	probably damaging	Het
Lrpprc	A	T	17: 85,060,532 (GRCm39)		probably benign	Het
Lrrk1	A	T	7: 65,958,407 (GRCm39)		probably null	Het
Megf8	G	A	7: 25,057,857 (GRCm39)	G2098D	probably damaging	Het
Nfkbia	T	C	12: 55,537,958 (GRCm39)	Q165R	possibly damaging	Het
Phykpl	C	T	11: 51,489,540 (GRCm39)	T382I	probably damaging	Het
Prdm10	A	G	9: 31,240,977 (GRCm39)	D206G	possibly damaging	Het
Rab26	T	C	17: 24,752,533 (GRCm39)	S9G	probably benign	Het
Sema3e	C	A	5: 14,275,670 (GRCm39)	N258K	probably benign	Het
Slfn10-ps	T	A	11: 82,920,971 (GRCm39)		noncoding transcript	Het
Tgm5	A	T	2: 120,907,277 (GRCm39)	C149S	probably damaging	Het
Timp4	C	T	6: 115,226,785 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,731,964 (GRCm39)	K251E	probably benign	Het
Ugcg	G	T	4: 59,207,763 (GRCm39)	R34L	possibly damaging	Het
Unc13d	T	C	11: 115,964,444 (GRCm39)	H300R	probably damaging	Het
Vmn1r20	G	T	6: 57,408,746 (GRCm39)	C24F	probably benign	Het
Vmn2r13	T	C	5: 109,339,883 (GRCm39)	R31G	probably damaging	Het
Vsig10l	A	G	7: 43,113,002 (GRCm39)	T87A	possibly damaging	Het
Zfp353-ps	T	A	8: 42,535,477 (GRCm39)		noncoding transcript	Het

Other mutations in Nipsnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Nipsnap2	APN	5	129,831,915 (GRCm39)	missense	probably damaging	0.99
IGL01012:Nipsnap2	APN	5	129,823,503 (GRCm39)	missense	possibly damaging	0.91
IGL01320:Nipsnap2	APN	5	129,821,828 (GRCm39)	missense	probably damaging	1.00
IGL01321:Nipsnap2	APN	5	129,834,205 (GRCm39)	makesense	probably null
IGL02119:Nipsnap2	APN	5	129,825,056 (GRCm39)	splice site	probably benign
R0540:Nipsnap2	UTSW	5	129,831,909 (GRCm39)	missense	probably damaging	1.00
R1497:Nipsnap2	UTSW	5	129,830,282 (GRCm39)	intron	probably benign
R1649:Nipsnap2	UTSW	5	129,830,301 (GRCm39)	missense	probably damaging	0.99
R1743:Nipsnap2	UTSW	5	129,834,149 (GRCm39)	missense	probably damaging	1.00
R2020:Nipsnap2	UTSW	5	129,830,287 (GRCm39)	splice site	probably null
R2187:Nipsnap2	UTSW	5	129,823,537 (GRCm39)	splice site	probably null
R2215:Nipsnap2	UTSW	5	129,816,649 (GRCm39)	missense	probably damaging	1.00
R2430:Nipsnap2	UTSW	5	129,821,855 (GRCm39)	missense	possibly damaging	0.94
R3124:Nipsnap2	UTSW	5	129,825,098 (GRCm39)	critical splice donor site	probably null
R5072:Nipsnap2	UTSW	5	129,816,644 (GRCm39)	missense	probably damaging	1.00
R5150:Nipsnap2	UTSW	5	129,834,175 (GRCm39)	missense	probably benign	0.03
R5823:Nipsnap2	UTSW	5	129,816,833 (GRCm39)	splice site	probably null
R6736:Nipsnap2	UTSW	5	129,822,352 (GRCm39)	critical splice donor site	probably null
R6913:Nipsnap2	UTSW	5	129,830,357 (GRCm39)	missense	probably benign	0.11
R7163:Nipsnap2	UTSW	5	129,821,774 (GRCm39)	missense	probably benign	0.00
R7597:Nipsnap2	UTSW	5	129,816,637 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16