Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03088:Snx9'

418227

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: 0.861) question?

Stock #

IGL03088

Quality Score

Status

Chromosome

Chromosomal Location

5841329-5931954 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5924610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 458 (T458A)

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: T458A

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

SMART Domains

Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: T458A

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,293,384 (GRCm38)	L299R	unknown	Het
Abca9	T	G	11: 110,144,261 (GRCm38)	R693S	probably benign	Het
Adamts20	A	T	15: 94,329,914 (GRCm38)		probably null	Het
Afg1l	T	A	10: 42,426,497 (GRCm38)	D169V	probably damaging	Het
Agbl1	T	A	7: 76,720,142 (GRCm38)	M663K	probably benign	Het
Angpt2	T	A	8: 18,741,023 (GRCm38)	I86F	probably benign	Het
Ankrd2	G	A	19: 42,041,985 (GRCm38)	E160K	probably null	Het
As3mt	G	T	19: 46,707,794 (GRCm38)	V14F	probably damaging	Het
Atp6v0a2	T	C	5: 124,714,107 (GRCm38)		probably benign	Het
Atp6v0d1	T	A	8: 105,530,959 (GRCm38)	I113F	probably damaging	Het
Bank1	A	G	3: 136,093,362 (GRCm38)	I406T	probably damaging	Het
Bicdl1	A	G	5: 115,663,822 (GRCm38)	V59A	possibly damaging	Het
Brsk1	A	G	7: 4,710,454 (GRCm38)		probably benign	Het
Cdh17	T	A	4: 11,810,473 (GRCm38)	N721K	probably damaging	Het
Cercam	A	G	2: 29,881,687 (GRCm38)		probably benign	Het
Clpb	T	A	7: 101,785,449 (GRCm38)	L484*	probably null	Het
Creb3l1	T	A	2: 91,995,394 (GRCm38)	M127L	probably benign	Het
Cstdc1	A	T	2: 148,783,407 (GRCm38)	H87L	possibly damaging	Het
Ctla2b	A	C	13: 60,896,060 (GRCm38)	D122E	probably damaging	Het
Cyb5rl	C	A	4: 107,081,028 (GRCm38)	Y12*	probably null	Het
Dennd5a	T	C	7: 109,908,381 (GRCm38)	Y800C	probably damaging	Het
Dmrt3	T	G	19: 25,623,047 (GRCm38)	S419A	probably benign	Het
Elapor1	A	G	3: 108,536,358 (GRCm38)	W31R	probably damaging	Het
Fbxo38	A	G	18: 62,522,472 (GRCm38)	V381A	possibly damaging	Het
Flg2	A	T	3: 93,203,191 (GRCm38)	H842L	unknown	Het
Fn1	A	T	1: 71,614,038 (GRCm38)		probably null	Het
Fos	A	C	12: 85,475,856 (GRCm38)	T181P	possibly damaging	Het
Fzd10	A	G	5: 128,602,605 (GRCm38)	Y463C	possibly damaging	Het
Gprc5b	T	C	7: 118,983,633 (GRCm38)	M338V	probably benign	Het
Gsta4	T	C	9: 78,206,063 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,986,046 (GRCm38)	T34S	probably benign	Het
Haspin	C	T	11: 73,136,625 (GRCm38)	R546Q	probably damaging	Het
Itgad	G	A	7: 128,203,032 (GRCm38)	R958H	probably benign	Het
Kansl1l	A	T	1: 66,735,725 (GRCm38)	H647Q	probably damaging	Het
Kif5c	A	C	2: 49,744,443 (GRCm38)	R762S	probably benign	Het
Klf4	C	A	4: 55,530,758 (GRCm38)	A68S	possibly damaging	Het
Klf4	A	G	4: 55,530,811 (GRCm38)	L50P	probably damaging	Het
Kmt2c	T	C	5: 25,299,804 (GRCm38)	E3502G	probably damaging	Het
Krt8	A	G	15: 102,000,587 (GRCm38)	I202T	possibly damaging	Het
Lmcd1	A	T	6: 112,310,688 (GRCm38)	T112S	probably damaging	Het
Lpxn	T	C	19: 12,833,211 (GRCm38)	C340R	probably damaging	Het
Man2a2	C	T	7: 80,359,334 (GRCm38)	V844M	possibly damaging	Het
Map10	G	A	8: 125,671,070 (GRCm38)	E401K	probably benign	Het
Mark4	A	T	7: 19,451,584 (GRCm38)	L75Q	probably damaging	Het
Mlf2	T	G	6: 124,933,982 (GRCm38)	M81R	probably damaging	Het
Mup3	A	G	4: 62,086,842 (GRCm38)	I67T	probably damaging	Het
Mycbpap	T	C	11: 94,513,943 (GRCm38)		probably null	Het
Myt1l	T	C	12: 29,920,477 (GRCm38)	V1185A	probably benign	Het
Ncoa7	C	T	10: 30,698,125 (GRCm38)		probably null	Het
Nos1	C	A	5: 117,867,258 (GRCm38)	N14K	probably damaging	Het
Nova2	G	T	7: 18,950,569 (GRCm38)	V116F	unknown	Het
Obox3	G	A	7: 15,627,002 (GRCm38)		probably benign	Het
Or10h1	A	T	17: 33,199,560 (GRCm38)	T171S	probably benign	Het
Or2t46	T	A	11: 58,581,827 (GRCm38)		probably benign	Het
Or5v1	A	G	17: 37,498,648 (GRCm38)		probably benign	Het
Or8b50	A	T	9: 38,607,301 (GRCm38)	S279C	probably damaging	Het
P2rx5	T	A	11: 73,165,620 (GRCm38)		probably benign	Het
Parvb	T	A	15: 84,308,843 (GRCm38)		probably benign	Het
Popdc2	A	T	16: 38,373,822 (GRCm38)	T202S	probably damaging	Het
Ppm1j	T	A	3: 104,785,409 (GRCm38)	Y411*	probably null	Het
Rapgefl1	C	A	11: 98,849,232 (GRCm38)	L484M	probably damaging	Het
Septin14	A	G	5: 129,697,733 (GRCm38)		probably benign	Het
Slf1	A	G	13: 77,084,435 (GRCm38)	C517R	probably damaging	Het
Smyd3	A	G	1: 179,094,333 (GRCm38)		probably null	Het
Srgap1	T	C	10: 121,825,693 (GRCm38)	D514G	possibly damaging	Het
Tbc1d14	A	G	5: 36,524,964 (GRCm38)	S311P	probably damaging	Het
Timd6	C	A	11: 46,584,417 (GRCm38)	F146L	probably benign	Het
Tmem150c	T	G	5: 100,086,217 (GRCm38)	K91N	probably damaging	Het
Traf3	T	A	12: 111,261,843 (GRCm38)	M471K	probably damaging	Het
Tubd1	G	T	11: 86,552,999 (GRCm38)	G178C	probably damaging	Het
Vav2	T	C	2: 27,267,250 (GRCm38)	K847E	possibly damaging	Het
Vmn2r100	A	T	17: 19,522,039 (GRCm38)	H225L	probably benign	Het
Wrn	A	T	8: 33,268,823 (GRCm38)		probably benign	Het
Xpo7	T	G	14: 70,681,262 (GRCm38)	S710R	probably benign	Het
Zfp780b	C	T	7: 27,962,992 (GRCm38)	V713I	possibly damaging	Het
Zkscan17	A	T	11: 59,487,766 (GRCm38)	I197N	probably damaging	Het

Other mutations in Snx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Snx9	APN	17	5,899,361 (GRCm38)	missense	probably benign
IGL00417:Snx9	APN	17	5,891,897 (GRCm38)	missense	probably benign	0.03
IGL01827:Snx9	APN	17	5,887,012 (GRCm38)	missense	probably benign	0.04
IGL02531:Snx9	APN	17	5,891,820 (GRCm38)	missense	probably benign
IGL02710:Snx9	APN	17	5,908,598 (GRCm38)	missense	probably damaging	1.00
san_angelo	UTSW	17	5,891,809 (GRCm38)	nonsense	probably null
PIT4495001:Snx9	UTSW	17	5,920,126 (GRCm38)	missense	possibly damaging	0.54
R0555:Snx9	UTSW	17	5,918,413 (GRCm38)	missense	probably damaging	0.97
R1015:Snx9	UTSW	17	5,920,127 (GRCm38)	missense	probably benign	0.12
R1065:Snx9	UTSW	17	5,902,361 (GRCm38)	splice site	probably benign
R1421:Snx9	UTSW	17	5,902,484 (GRCm38)	missense	probably benign	0.45
R1657:Snx9	UTSW	17	5,918,436 (GRCm38)	missense	possibly damaging	0.65
R1823:Snx9	UTSW	17	5,920,671 (GRCm38)	missense	probably damaging	1.00
R1914:Snx9	UTSW	17	5,928,256 (GRCm38)	missense	possibly damaging	0.65
R3703:Snx9	UTSW	17	5,928,200 (GRCm38)	splice site	probably null
R3871:Snx9	UTSW	17	5,891,781 (GRCm38)	missense	probably benign	0.00
R4375:Snx9	UTSW	17	5,908,626 (GRCm38)	nonsense	probably null
R4412:Snx9	UTSW	17	5,908,394 (GRCm38)	missense	probably damaging	0.96
R4669:Snx9	UTSW	17	5,927,224 (GRCm38)	missense	probably damaging	1.00
R4974:Snx9	UTSW	17	5,902,519 (GRCm38)	splice site	probably null
R5038:Snx9	UTSW	17	5,887,073 (GRCm38)	missense	probably benign	0.12
R5137:Snx9	UTSW	17	5,928,253 (GRCm38)	missense	probably damaging	1.00
R5369:Snx9	UTSW	17	5,920,580 (GRCm38)	missense	probably damaging	1.00
R5459:Snx9	UTSW	17	5,920,638 (GRCm38)	missense	probably damaging	0.99
R5624:Snx9	UTSW	17	5,891,809 (GRCm38)	nonsense	probably null
R5847:Snx9	UTSW	17	5,924,621 (GRCm38)	missense	possibly damaging	0.94
R5953:Snx9	UTSW	17	5,908,403 (GRCm38)	missense	probably damaging	1.00
R5953:Snx9	UTSW	17	5,908,402 (GRCm38)	missense	probably damaging	1.00
R6263:Snx9	UTSW	17	5,887,049 (GRCm38)	missense	probably damaging	0.98
R6481:Snx9	UTSW	17	5,922,209 (GRCm38)	critical splice donor site	probably null
R6491:Snx9	UTSW	17	5,920,162 (GRCm38)	missense	probably benign	0.00
R7873:Snx9	UTSW	17	5,918,476 (GRCm38)	missense	possibly damaging	0.81
R8471:Snx9	UTSW	17	5,890,090 (GRCm38)	missense	probably damaging	1.00
R9451:Snx9	UTSW	17	5,899,493 (GRCm38)	missense	probably damaging	0.99
R9748:Snx9	UTSW	17	5,899,395 (GRCm38)	missense	probably benign

Posted On

2016-08-02