Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

5891604-5982229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5949636 bp (GRCm39)

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]

AlphaFold

Q91VH2

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: 97,083,737 (GRCm39)	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,620,996 (GRCm39)		probably benign	Het
Akap13	A	G	7: 75,378,667 (GRCm39)	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,233,662 (GRCm39)		probably benign	Het
Apba3	C	T	10: 81,108,901 (GRCm39)	P555S	probably damaging	Het
Aplnr	A	G	2: 84,967,985 (GRCm39)	S337G	probably benign	Het
Arhgef40	A	G	14: 52,226,417 (GRCm39)	N154D	probably damaging	Het
Asb14	A	G	14: 26,633,998 (GRCm39)	K401R	probably benign	Het
Aspn	C	A	13: 49,719,968 (GRCm39)	T328K	probably benign	Het
Barhl2	C	T	5: 106,603,365 (GRCm39)	A265T	possibly damaging	Het
Brca2	T	A	5: 150,463,363 (GRCm39)	H1042Q	probably benign	Het
C3	A	G	17: 57,533,004 (GRCm39)	L167P	probably benign	Het
Ccdc33	A	G	9: 57,977,257 (GRCm39)		probably benign	Het
Cdk10	T	A	8: 123,957,063 (GRCm39)	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,362,912 (GRCm39)		probably benign	Het
Chil3	T	A	3: 106,056,017 (GRCm39)	N352I	probably damaging	Het
Chn2	G	T	6: 54,272,907 (GRCm39)		probably null	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cpt1b	T	C	15: 89,305,066 (GRCm39)	E394G	probably benign	Het
Fcgr2b	T	A	1: 170,788,799 (GRCm39)	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,333,480 (GRCm39)	Q337*	probably null	Het
Fras1	T	A	5: 96,887,217 (GRCm39)	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,824,601 (GRCm39)		probably null	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gpr75	C	T	11: 30,841,590 (GRCm39)	T165I	probably damaging	Het
Gzmd	A	T	14: 56,367,737 (GRCm39)	C179S	probably damaging	Het
Hand1	T	G	11: 57,722,575 (GRCm39)	H13P	probably damaging	Het
Irak3	C	T	10: 120,013,972 (GRCm39)		probably null	Het
Isl2	T	A	9: 55,452,253 (GRCm39)	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,393,240 (GRCm39)	V367A	probably damaging	Het
Katna1	T	C	10: 7,638,758 (GRCm39)		probably benign	Het
Myh6	A	G	14: 55,184,450 (GRCm39)	M1627T	probably benign	Het
Naprt	A	G	15: 75,765,164 (GRCm39)	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,642,371 (GRCm39)	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,884,954 (GRCm39)	V252A	possibly damaging	Het
Or8k39	T	C	2: 86,563,579 (GRCm39)	I126V	possibly damaging	Het
Or9i16	C	T	19: 13,864,945 (GRCm39)	V210I	probably benign	Het
P2ry2	A	G	7: 100,647,393 (GRCm39)	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,674,593 (GRCm39)	N108D	probably benign	Het
Pdgfrl	A	G	8: 41,438,660 (GRCm39)	T199A	probably damaging	Het
Plaa	A	G	4: 94,470,844 (GRCm39)	Y431H	probably benign	Het
Pls1	A	T	9: 95,664,472 (GRCm39)	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,472,138 (GRCm39)	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,564,729 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,067,890 (GRCm39)	S240P	probably benign	Het
Reg2	T	A	6: 78,383,204 (GRCm39)	Y50*	probably null	Het
Rev3l	C	T	10: 39,682,965 (GRCm39)	T361I	probably benign	Het
Rps4l	A	G	6: 148,256,383 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,598,982 (GRCm39)	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,253,273 (GRCm39)	E327G	probably damaging	Het
Shank2	A	G	7: 143,965,584 (GRCm39)	K1057R	probably damaging	Het
Sim2	T	A	16: 93,915,803 (GRCm39)	Y255*	probably null	Het
Sphkap	T	A	1: 83,258,237 (GRCm39)	I169F	probably damaging	Het
Spink5	A	G	18: 44,100,111 (GRCm39)	T43A	probably benign	Het
Stac2	C	T	11: 97,932,005 (GRCm39)	S265N	probably benign	Het
Tbx20	A	G	9: 24,670,044 (GRCm39)	V91A	probably damaging	Het
Tgfbr2	C	T	9: 115,939,257 (GRCm39)	R190H	probably damaging	Het
Ubr2	A	G	17: 47,301,916 (GRCm39)		probably null	Het
Wdfy3	C	T	5: 102,063,204 (GRCm39)		probably null	Het
Wdr82	T	C	9: 106,061,449 (GRCm39)	V166A	probably benign	Het
Zfhx4	C	T	3: 5,307,401 (GRCm39)	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,831,109 (GRCm39)	T299S	possibly damaging	Het

Other mutations in Snx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Snx9	APN	17	5,942,172 (GRCm39)	missense	probably benign	0.03
IGL01827:Snx9	APN	17	5,937,287 (GRCm39)	missense	probably benign	0.04
IGL02531:Snx9	APN	17	5,942,095 (GRCm39)	missense	probably benign
IGL02710:Snx9	APN	17	5,958,873 (GRCm39)	missense	probably damaging	1.00
IGL03088:Snx9	APN	17	5,974,885 (GRCm39)	missense	probably benign
san_angelo	UTSW	17	5,942,084 (GRCm39)	nonsense	probably null
PIT4495001:Snx9	UTSW	17	5,970,401 (GRCm39)	missense	possibly damaging	0.54
R0555:Snx9	UTSW	17	5,968,688 (GRCm39)	missense	probably damaging	0.97
R1015:Snx9	UTSW	17	5,970,402 (GRCm39)	missense	probably benign	0.12
R1065:Snx9	UTSW	17	5,952,636 (GRCm39)	splice site	probably benign
R1421:Snx9	UTSW	17	5,952,759 (GRCm39)	missense	probably benign	0.45
R1657:Snx9	UTSW	17	5,968,711 (GRCm39)	missense	possibly damaging	0.65
R1823:Snx9	UTSW	17	5,970,946 (GRCm39)	missense	probably damaging	1.00
R1914:Snx9	UTSW	17	5,978,531 (GRCm39)	missense	possibly damaging	0.65
R3703:Snx9	UTSW	17	5,978,475 (GRCm39)	splice site	probably null
R3871:Snx9	UTSW	17	5,942,056 (GRCm39)	missense	probably benign	0.00
R4375:Snx9	UTSW	17	5,958,901 (GRCm39)	nonsense	probably null
R4412:Snx9	UTSW	17	5,958,669 (GRCm39)	missense	probably damaging	0.96
R4669:Snx9	UTSW	17	5,977,499 (GRCm39)	missense	probably damaging	1.00
R4974:Snx9	UTSW	17	5,952,794 (GRCm39)	splice site	probably null
R5038:Snx9	UTSW	17	5,937,348 (GRCm39)	missense	probably benign	0.12
R5137:Snx9	UTSW	17	5,978,528 (GRCm39)	missense	probably damaging	1.00
R5369:Snx9	UTSW	17	5,970,855 (GRCm39)	missense	probably damaging	1.00
R5459:Snx9	UTSW	17	5,970,913 (GRCm39)	missense	probably damaging	0.99
R5624:Snx9	UTSW	17	5,942,084 (GRCm39)	nonsense	probably null
R5847:Snx9	UTSW	17	5,974,896 (GRCm39)	missense	possibly damaging	0.94
R5953:Snx9	UTSW	17	5,958,678 (GRCm39)	missense	probably damaging	1.00
R5953:Snx9	UTSW	17	5,958,677 (GRCm39)	missense	probably damaging	1.00
R6263:Snx9	UTSW	17	5,937,324 (GRCm39)	missense	probably damaging	0.98
R6481:Snx9	UTSW	17	5,972,484 (GRCm39)	critical splice donor site	probably null
R6491:Snx9	UTSW	17	5,970,437 (GRCm39)	missense	probably benign	0.00
R7873:Snx9	UTSW	17	5,968,751 (GRCm39)	missense	possibly damaging	0.81
R8471:Snx9	UTSW	17	5,940,365 (GRCm39)	missense	probably damaging	1.00
R9451:Snx9	UTSW	17	5,949,768 (GRCm39)	missense	probably damaging	0.99
R9748:Snx9	UTSW	17	5,949,670 (GRCm39)	missense	probably benign

Posted On

2015-08-05