Mutagenetix > Incidental Mutation

Incidental Mutation 'R4974:Snx9'

382533

Institutional Source

Beutler Lab

Gene Symbol

Snx9

Ensembl Gene

ENSMUSG00000002365

Gene Name

sorting nexin 9

Synonyms

SH3PX1, SDP1

MMRRC Submission

042569-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R4974 (G1)

Quality Score

125

Status

Validated

Chromosome

Chromosomal Location

5841329-5931954 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 5902519 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000002436

SMART Domains

Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (94/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	A	T	19: 45,820,287	F655Y	probably damaging	Het
A730061H03Rik	C	T	14: 55,560,117		probably benign	Het
Acsf2	A	C	11: 94,569,329	M399R	possibly damaging	Het
Adra2c	C	A	5: 35,280,924	R347S	probably benign	Het
Akap9	A	G	5: 3,961,466	K723R	possibly damaging	Het
Anxa9	A	C	3: 95,308,013		probably benign	Het
Aqr	T	C	2: 114,113,351	H1102R	probably damaging	Het
Arrdc2	A	G	8: 70,837,518	V173A	probably benign	Het
Aspm	T	C	1: 139,478,010	V1545A	probably benign	Het
Bbs5	C	T	2: 69,647,234		probably benign	Het
Bnip2	A	G	9: 70,003,434	T255A	possibly damaging	Het
Cacna1b	T	C	2: 24,648,523	T1531A	probably damaging	Het
Cast	T	C	13: 74,807,823	K9R	probably benign	Het
Cfap46	A	T	7: 139,607,188		probably null	Het
Cfap57	G	T	4: 118,593,054	L624M	probably damaging	Het
Cyp2c39	A	T	19: 39,563,879	M339L	probably benign	Het
Dcst1	T	A	3: 89,357,803	T247S	probably benign	Het
Dnajc18	T	A	18: 35,683,319	I189F	possibly damaging	Het
Eef2kmt	T	C	16: 5,249,012	T126A	probably benign	Het
Epha2	A	G	4: 141,321,705	E624G	probably damaging	Het
Erbb3	G	A	10: 128,572,448	H866Y	probably benign	Het
F13a1	C	T	13: 36,916,863		probably null	Het
Fgd3	T	A	13: 49,278,602	N392I	probably damaging	Het
Fgf7	A	T	2: 126,088,240	M98L	probably benign	Het
G2e3	T	A	12: 51,369,139	S553T	probably benign	Het
Glipr1	C	A	10: 111,993,506	E117*	probably null	Het
Gm11060	A	T	2: 105,093,783		probably benign	Het
Gm4787	A	G	12: 81,377,629	I585T	probably damaging	Het
Gm6055	A	T	14: 48,079,458		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,279,545		probably benign	Het
Gpt2	T	A	8: 85,519,439		probably benign	Het
Gtf2ird1	A	T	5: 134,357,831	Y345*	probably null	Het
Hmcn1	T	A	1: 150,819,449	T235S	probably benign	Het
Igkv5-48	A	G	6: 69,726,754	Y56H	possibly damaging	Het
Il17re	C	T	6: 113,469,569	T427I	probably benign	Het
Itpr3	A	T	17: 27,083,608	D80V	probably damaging	Het
Kif21a	G	T	15: 90,949,010	H1317N	probably benign	Het
Kif28	T	C	1: 179,698,644	K144E	probably damaging	Het
Kif4-ps	A	C	12: 101,147,071		noncoding transcript	Het
Klk11	C	T	7: 43,777,736	T148I	probably damaging	Het
Klkb1	T	A	8: 45,286,958	H99L	probably damaging	Het
Kpna6	A	C	4: 129,656,405		probably null	Het
Lama3	G	T	18: 12,552,826	K1132N	probably damaging	Het
Lcp1	T	A	14: 75,208,471	L264*	probably null	Het
Map2	T	C	1: 66,413,505	V360A	probably benign	Het
Med13	A	T	11: 86,298,847	S1079T	probably damaging	Het
Mettl13	A	G	1: 162,537,220	M162T	probably damaging	Het
Mppe1	T	G	18: 67,228,062	E208A	probably benign	Het
Msantd2	A	C	9: 37,489,379	K19T	possibly damaging	Het
Mylk3	A	G	8: 85,364,783	V131A	probably damaging	Het
Myocd	A	T	11: 65,183,473	S609T	possibly damaging	Het
Ncbp3	G	A	11: 73,053,529		probably null	Het
Neb	T	A	2: 52,246,859	L3203F	probably damaging	Het
Notch2	C	A	3: 98,139,633	T1756K	probably benign	Het
Nphp4	A	T	4: 152,537,793	R544W	probably damaging	Het
Olfr1179	T	G	2: 88,402,412	H174P	probably damaging	Het
Olfr368	A	T	2: 37,332,566	D273V	probably damaging	Het
Olfr402	A	T	11: 74,155,919	Y255F	probably benign	Het
Parp4	T	A	14: 56,589,898	V163E	possibly damaging	Het
Pcdhgb1	C	A	18: 37,682,372	Q639K	probably benign	Het
Pcnx2	A	G	8: 125,851,130	V936A	probably benign	Het
Pcsk7	T	A	9: 45,918,862	M418K	probably damaging	Het
Pglyrp4	T	C	3: 90,733,007	I188T	probably benign	Het
Pgs1	A	G	11: 118,005,519	R339G	probably benign	Het
Pik3r3	A	G	4: 116,286,191	I294V	probably benign	Het
Pik3r6	A	G	11: 68,539,945	D520G	probably damaging	Het
Pkdrej	A	G	15: 85,820,409	V442A	probably benign	Het
Ppfibp1	T	A	6: 147,030,419		probably benign	Het
Ppp3ca	C	A	3: 136,935,049	Q454K	possibly damaging	Het
Ppp5c	A	T	7: 17,009,936	M191K	probably damaging	Het
Prl4a1	A	T	13: 28,023,325	Y194F	possibly damaging	Het
Ptpn21	G	T	12: 98,680,103	T1032K	probably damaging	Het
Ptprh	A	T	7: 4,551,007		probably null	Het
Ptprm	T	A	17: 66,678,067	R1447S	probably benign	Het
Pxk	T	A	14: 8,140,734	D236E	probably damaging	Het
Qars	T	C	9: 108,508,931	F107S	probably damaging	Het
Rbbp6	A	G	7: 122,999,808		probably benign	Het
Rptor	A	T	11: 119,821,640		probably benign	Het
Rtn4	T	A	11: 29,740,994	M1095K	probably damaging	Het
Serpinb3b	T	A	1: 107,154,715	H273L	probably benign	Het
Sgce	G	A	6: 4,689,630	T401M	probably benign	Het
Slc12a6	C	T	2: 112,358,525	R1083W	probably damaging	Het
Slc45a4	A	T	15: 73,584,450	M635K	probably damaging	Het
Slc6a1	T	A	6: 114,307,701	V240D	probably damaging	Het
Spred3	A	G	7: 29,167,824	V49A	probably damaging	Het
Tars	A	G	15: 11,390,391	F334S	probably damaging	Het
Tdpoz1	A	G	3: 93,671,147	V110A	probably benign	Het
Tfrc	T	G	16: 32,618,279	V252G	probably damaging	Het
Tm6sf2	T	C	8: 70,075,478		probably benign	Het
Txlnb	T	C	10: 17,838,969	V383A	probably damaging	Het
Utp20	C	A	10: 88,816,949	V368L	probably benign	Het
Vmn2r12	A	T	5: 109,091,506	V397E	probably damaging	Het
Zdhhc12	G	A	2: 30,091,526	R175W	probably damaging	Het
Zfyve9	A	G	4: 108,680,900		probably null	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
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
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
R9451:Snx9	UTSW	17	5899493	missense	probably damaging	0.99
R9748:Snx9	UTSW	17	5899395	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCACATGCGTGGTTGTTC -3'
(R):5'- CTAAGATTGAAGGCCACACAGG -3'

Sequencing Primer
(F):5'- CACATGCGTGGTTGTTCTCGTTC -3'
(R):5'- AGGACTCCAAACTCAGTAGATTAC -3'

Posted On

2016-04-27