Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00332:Snx9'

332295

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx9

Ensembl Gene

ENSMUSG00000002365

Gene Name

sorting nexin 9

Synonyms

SH3PX1, SDP1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.764) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

5841329-5931954 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5899361 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 112 (N112S)

Ref Sequence

ENSEMBL: ENSMUSP00000002436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002436]

PDB Structure

Solution structure of the SH3 domain from mouse sorting nexin-9 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000002436
AA Change: N112S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: N112S

Domain	Start	End	E-Value	Type
SH3	3	61	1.51e-16	SMART
low complexity region	84	100	N/A	INTRINSIC
low complexity region	160	170	N/A	INTRINSIC
PX	247	357	4.15e-23	SMART
Pfam:BAR_3_WASP_bdg	358	593	2.4e-120	PFAM

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 sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Snx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Snx9	APN	17	5891897	missense	probably benign	0.03
IGL01827:Snx9	APN	17	5887012	missense	probably benign	0.04
IGL02531:Snx9	APN	17	5891820	missense	probably benign
IGL02710:Snx9	APN	17	5908598	missense	probably damaging	1.00
IGL03088:Snx9	APN	17	5924610	missense	probably benign
san_angelo	UTSW	17	5891809	nonsense	probably null
PIT4495001:Snx9	UTSW	17	5920126	missense	possibly damaging	0.54
R0555:Snx9	UTSW	17	5918413	missense	probably damaging	0.97
R1015:Snx9	UTSW	17	5920127	missense	probably benign	0.12
R1065:Snx9	UTSW	17	5902361	splice site	probably benign
R1421:Snx9	UTSW	17	5902484	missense	probably benign	0.45
R1657:Snx9	UTSW	17	5918436	missense	possibly damaging	0.65
R1823:Snx9	UTSW	17	5920671	missense	probably damaging	1.00
R1914:Snx9	UTSW	17	5928256	missense	possibly damaging	0.65
R3703:Snx9	UTSW	17	5928200	splice site	probably null
R3871:Snx9	UTSW	17	5891781	missense	probably benign	0.00
R4375:Snx9	UTSW	17	5908626	nonsense	probably null
R4412:Snx9	UTSW	17	5908394	missense	probably damaging	0.96
R4669:Snx9	UTSW	17	5927224	missense	probably damaging	1.00
R4974:Snx9	UTSW	17	5902519	splice site	probably null
R5038:Snx9	UTSW	17	5887073	missense	probably benign	0.12
R5137:Snx9	UTSW	17	5928253	missense	probably damaging	1.00
R5369:Snx9	UTSW	17	5920580	missense	probably damaging	1.00
R5459:Snx9	UTSW	17	5920638	missense	probably damaging	0.99
R5624:Snx9	UTSW	17	5891809	nonsense	probably null
R5847:Snx9	UTSW	17	5924621	missense	possibly damaging	0.94
R5953:Snx9	UTSW	17	5908402	missense	probably damaging	1.00
R5953:Snx9	UTSW	17	5908403	missense	probably damaging	1.00
R6263:Snx9	UTSW	17	5887049	missense	probably damaging	0.98
R6481:Snx9	UTSW	17	5922209	critical splice donor site	probably null
R6491:Snx9	UTSW	17	5920162	missense	probably benign	0.00
R7873:Snx9	UTSW	17	5918476	missense	possibly damaging	0.81
R8471:Snx9	UTSW	17	5890090	missense	probably damaging	1.00

Posted On

2015-08-05