Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02531:Snx9'

297299

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: 0.821) question?

Stock #

IGL02531

Quality Score

Status

Chromosome

Chromosomal Location

5841329-5931954 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5891820 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 74 (V74A)

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: V74A

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

SMART Domains

Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V74A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231803

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	C	A	6: 86,956,447	H467N	unknown	Het
Alb	A	G	5: 90,467,448	D273G	probably damaging	Het
Arap3	A	G	18: 37,989,751	S531P	probably damaging	Het
Bmpr2	T	A	1: 59,845,714		probably null	Het
Chd7	G	A	4: 8,854,134	R1902H	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b13	A	T	7: 26,061,605	H29L	possibly damaging	Het
Enpp5	G	T	17: 44,080,952	V91F	probably damaging	Het
Fam210b	T	C	2: 172,352,755	Y176H	probably damaging	Het
Fam83b	T	C	9: 76,492,000	E607G	possibly damaging	Het
Gm4788	T	C	1: 139,774,569	K59R	probably benign	Het
Hhla1	C	T	15: 65,967,407		probably benign	Het
Kdm3b	A	G	18: 34,795,729	T178A	probably benign	Het
Klf1	T	A	8: 84,904,808	F334I	probably damaging	Het
Klra8	A	G	6: 130,118,970	S220P	possibly damaging	Het
Medag	A	G	5: 149,422,151	N99S	probably benign	Het
Muc6	T	C	7: 141,636,940	T2607A	possibly damaging	Het
Mug2	T	G	6: 122,072,771	L921R	probably damaging	Het
Nacad	T	C	11: 6,598,580	N1385D	possibly damaging	Het
Nin	A	G	12: 70,020,932	F1983L	probably benign	Het
Nipal4	T	C	11: 46,151,325	I176M	probably damaging	Het
Orc6	T	C	8: 85,303,369	S47P	probably damaging	Het
Ovch2	C	T	7: 107,790,198	C341Y	probably damaging	Het
Polq	T	A	16: 37,062,374	H1633Q	possibly damaging	Het
Rab23	T	C	1: 33,738,280		probably benign	Het
Rai14	A	G	15: 10,574,782	S697P	probably damaging	Het
Rnf213	T	C	11: 119,436,802	F1872L	probably benign	Het
Sdhc	T	C	1: 171,136,018	H127R	probably damaging	Het
Spata31d1d	A	G	13: 59,727,934	S596P	possibly damaging	Het
Syt14	T	C	1: 192,901,934	*78W	probably null	Het
Thoc1	A	G	18: 9,970,258	T203A	probably benign	Het
Trmt13	A	G	3: 116,592,191		probably null	Het
Ttc28	A	G	5: 111,225,850	I1020V	probably damaging	Het
Vmn2r16	A	G	5: 109,340,268	T336A	probably damaging	Het

Other mutations in Snx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Snx9	APN	17	5899361	missense	probably benign
IGL00417:Snx9	APN	17	5891897	missense	probably benign	0.03
IGL01827:Snx9	APN	17	5887012	missense	probably benign	0.04
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

2015-04-16