Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Nipsnap2'

74037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nipsnap2

Ensembl Gene

ENSMUSG00000029432

Gene Name

nipsnap homolog 2

Synonyms

Gbas, Nipsnap2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

129725063-129758327 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 129757141 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 282 (*282R)

Ref Sequence

ENSEMBL: ENSMUSP00000141131 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000086046
AA Change: *282R

SMART Domains

Protein: ENSMUSP00000083211
Gene: ENSMUSG00000029432
AA Change: *282R

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 null
Transcript: ENSMUST00000124342
AA Change: *282R

SMART Domains

Protein: ENSMUSP00000117705
Gene: ENSMUSG00000029432
AA Change: *282R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137604

Predicted Effect

probably null
Transcript: ENSMUST00000186265
AA Change: *282R

SMART Domains

Protein: ENSMUSP00000141131
Gene: ENSMUSG00000029432
AA Change: *282R

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dpcr1	A	T	17: 35,636,866	N490K	probably damaging	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Nipsnap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Nipsnap2	APN	5	129754851	missense	probably damaging	0.99
IGL01012:Nipsnap2	APN	5	129746439	missense	possibly damaging	0.91
IGL01320:Nipsnap2	APN	5	129744764	missense	probably damaging	1.00
IGL02119:Nipsnap2	APN	5	129747992	splice site	probably benign
IGL02636:Nipsnap2	APN	5	129745290	intron	probably benign
R0540:Nipsnap2	UTSW	5	129754845	missense	probably damaging	1.00
R1497:Nipsnap2	UTSW	5	129753218	intron	probably benign
R1649:Nipsnap2	UTSW	5	129753237	missense	probably damaging	0.99
R1743:Nipsnap2	UTSW	5	129757085	missense	probably damaging	1.00
R2020:Nipsnap2	UTSW	5	129753223	splice site	probably null
R2187:Nipsnap2	UTSW	5	129746473	splice site	probably null
R2215:Nipsnap2	UTSW	5	129739585	missense	probably damaging	1.00
R2430:Nipsnap2	UTSW	5	129744791	missense	possibly damaging	0.94
R3124:Nipsnap2	UTSW	5	129748034	critical splice donor site	probably null
R5072:Nipsnap2	UTSW	5	129739580	missense	probably damaging	1.00
R5150:Nipsnap2	UTSW	5	129757111	missense	probably benign	0.03
R5823:Nipsnap2	UTSW	5	129739769	splice site	probably null
R6736:Nipsnap2	UTSW	5	129745288	critical splice donor site	probably null
R6913:Nipsnap2	UTSW	5	129753293	missense	probably benign	0.11
R7163:Nipsnap2	UTSW	5	129744710	missense	probably benign	0.00
R7597:Nipsnap2	UTSW	5	129739573	missense	probably damaging	1.00

Posted On

2013-10-07