Mutagenetix > Incidental Mutation

Incidental Mutation 'R0008:Nipsnap3b'

19150

Institutional Source

Beutler Lab

Gene Symbol

Nipsnap3b

Ensembl Gene

ENSMUSG00000015247

Gene Name

nipsnap homolog 3B

Synonyms

2700063N13Rik

MMRRC Submission

038303-MU

Accession Numbers

Essential gene?

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

Stock #

R0008 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53011932-53022060 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53015112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 53 (L53Q)

Ref Sequence

ENSEMBL: ENSMUSP00000015391 (fasta)

Gene Model

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

AlphaFold

Q9CQE1

Predicted Effect

probably damaging
Transcript: ENSMUST00000015391
AA Change: L53Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000015391
Gene: ENSMUSG00000015247
AA Change: L53Q

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: L53Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103292
Gene: ENSMUSG00000015247
AA Change: L53Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 81.0%
3x: 72.4%
10x: 49.2%
20x: 28.4%

Validation Efficiency

90% (82/91)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,882,346 (GRCm39)	K118R	possibly damaging	Het
Afap1l1	A	G	18: 61,889,976 (GRCm39)	S87P	probably benign	Het
Ankrd27	A	G	7: 35,303,125 (GRCm39)	K196R	probably benign	Het
Arrdc3	T	A	13: 81,039,194 (GRCm39)	I75N	probably damaging	Het
Calcrl	T	C	2: 84,203,618 (GRCm39)	D54G	probably benign	Het
Cnot1	G	T	8: 96,487,969 (GRCm39)	D562E	probably damaging	Het
Cp	T	A	3: 20,022,287 (GRCm39)	Y230N	probably damaging	Het
Dclre1c	T	C	2: 3,439,032 (GRCm39)	V64A	probably damaging	Het
Fat2	A	T	11: 55,202,075 (GRCm39)	L333H	probably damaging	Het
Hoxc11	T	C	15: 102,863,397 (GRCm39)	V146A	probably damaging	Het
Il11	T	C	7: 4,776,658 (GRCm39)	S111G	probably benign	Het
Ist1	A	T	8: 110,403,418 (GRCm39)	I273K	probably benign	Het
Lrp2	T	A	2: 69,346,895 (GRCm39)	N784Y	probably benign	Het
Lrp6	T	C	6: 134,462,716 (GRCm39)	E648G	probably damaging	Het
Mtbp	T	A	15: 55,449,889 (GRCm39)		probably benign	Het
Nat9	A	T	11: 115,075,941 (GRCm39)	Y27N	probably damaging	Het
Nlrp3	A	T	11: 59,449,274 (GRCm39)	H852L	probably benign	Het
Pax9	A	G	12: 56,756,528 (GRCm39)	T289A	probably benign	Het
Pcyt2	A	T	11: 120,506,695 (GRCm39)	I53N	possibly damaging	Het
Pdzph1	T	A	17: 59,229,756 (GRCm39)		probably benign	Het
Plekhm2	C	T	4: 141,369,704 (GRCm39)		probably benign	Het
Ppt1	T	C	4: 122,742,216 (GRCm39)		probably benign	Het
Prep	T	C	10: 44,991,174 (GRCm39)	V280A	probably benign	Het
Proser3	G	A	7: 30,239,563 (GRCm39)	R514C	probably damaging	Het
Rbm45	T	C	2: 76,208,742 (GRCm39)	Y293H	probably damaging	Het
Sdk2	A	G	11: 113,747,581 (GRCm39)	L643P	probably damaging	Het
Slc1a1	G	A	19: 28,878,884 (GRCm39)	G208S	probably benign	Het
Slc35b4	A	T	6: 34,135,452 (GRCm39)	Y287N	probably damaging	Het
Srgap2	T	C	1: 131,283,302 (GRCm39)	T260A	probably damaging	Het
Taf5	A	G	19: 47,064,301 (GRCm39)	S415G	possibly damaging	Het
Tdp2	T	G	13: 25,025,333 (GRCm39)		probably null	Het
Tnrc6a	G	A	7: 122,769,617 (GRCm39)	R469H	probably benign	Het
Tox	T	A	4: 6,842,411 (GRCm39)	M40L	probably benign	Het
Trib2	A	T	12: 15,859,930 (GRCm39)	H110Q	probably benign	Het
Trpa1	A	G	1: 14,973,439 (GRCm39)	I293T	possibly damaging	Het
Wdr93	A	G	7: 79,408,221 (GRCm39)	E234G	probably damaging	Het
Zfp385b	A	T	2: 77,246,291 (GRCm39)	S245R	probably benign	Het
Zfyve9	T	A	4: 108,575,902 (GRCm39)	E393V	possibly damaging	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
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
R1262: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

Posted On

2013-03-25