Mutagenetix > Incidental Mutation

Incidental Mutation 'R1262:Nipsnap3b'

151616

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap3b

Ensembl Gene

ENSMUSG00000015247

Gene Name

nipsnap homolog 3B

Synonyms

2700063N13Rik

MMRRC Submission

039329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R1262 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53011932-53022060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 53015166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 71 (G71V)

Ref Sequence

ENSEMBL: ENSMUSP00000103292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015391] [ENSMUST00000107665]

AlphaFold

Q9CQE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015391
AA Change: G71V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000015391
Gene: ENSMUSG00000015247
AA Change: G71V

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	37	136	1.5e-32	PFAM
Pfam:NIPSNAP	146	245	5.5e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107665
AA Change: G71V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103292
Gene: ENSMUSG00000015247
AA Change: G71V

Domain	Start	End	E-Value	Type
Pfam:NIPSNAP	37	136	2.2e-30	PFAM
Pfam:NIPSNAP	134	195	8.5e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,912,470 (GRCm39)	V114A	probably benign	Het
BC048679	A	G	7: 81,145,089 (GRCm39)	F85L	probably benign	Het
Btbd7	A	G	12: 102,754,210 (GRCm39)	I852T	probably benign	Het
Cenpk	T	A	13: 104,367,293 (GRCm39)	V43E	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cyp2b10	C	T	7: 25,614,836 (GRCm39)	T281M	probably benign	Het
Lrriq1	T	C	10: 103,069,998 (GRCm39)	D6G	possibly damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Or51b6b	G	A	7: 103,309,648 (GRCm39)	P270S	probably benign	Het
Or52h1	A	G	7: 103,828,623 (GRCm39)		probably null	Het
Snx25	T	A	8: 46,558,328 (GRCm39)	R80S	probably damaging	Het
Syt6	A	T	3: 103,492,656 (GRCm39)		probably null	Het
Tas1r2	G	A	4: 139,382,599 (GRCm39)	R79Q	probably damaging	Het
Ttc7	C	T	17: 87,648,364 (GRCm39)	T521I	probably benign	Het

Other mutations in Nipsnap3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03032:Nipsnap3b	APN	4	53,015,016 (GRCm39)	missense	possibly damaging	0.80
R0008:Nipsnap3b	UTSW	4	53,015,112 (GRCm39)	missense	probably damaging	1.00
R0008:Nipsnap3b	UTSW	4	53,015,112 (GRCm39)	missense	probably damaging	1.00
R0148:Nipsnap3b	UTSW	4	53,017,088 (GRCm39)	missense	possibly damaging	0.56
R0518:Nipsnap3b	UTSW	4	53,021,343 (GRCm39)	missense	probably damaging	0.99
R1261:Nipsnap3b	UTSW	4	53,015,166 (GRCm39)	missense	probably damaging	1.00
R1954:Nipsnap3b	UTSW	4	53,017,213 (GRCm39)	splice site	probably benign
R5861:Nipsnap3b	UTSW	4	53,021,177 (GRCm39)	missense	probably damaging	1.00
R6213:Nipsnap3b	UTSW	4	53,017,066 (GRCm39)	missense	probably benign	0.01
R6950:Nipsnap3b	UTSW	4	53,015,136 (GRCm39)	missense	possibly damaging	0.90
R7076:Nipsnap3b	UTSW	4	53,021,095 (GRCm39)	splice site	probably null
R8397:Nipsnap3b	UTSW	4	53,012,049 (GRCm39)	critical splice donor site	probably null
R9125:Nipsnap3b	UTSW	4	53,021,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTATGTTCACCTTTTGCTACAGGC -3'
(R):5'- CACGAGGACATTCTCAATTCCTCTGC -3'

Sequencing Primer
(F):5'- TTTTGCTACAGGCCCCAGG -3'
(R):5'- AAGCTGATGGTCAGATATCCTCTC -3'

Posted On

2014-01-29