Mutagenetix > Incidental Mutation

Incidental Mutation 'R5038:Snx9'

393133

Institutional Source

Beutler Lab

Gene Symbol

Snx9

Ensembl Gene

ENSMUSG00000002365

Gene Name

sorting nexin 9

Synonyms

SH3PX1, SDP1

MMRRC Submission

042628-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R5038 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5891604-5982229 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5937348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

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: V30A

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000002436
Gene: ENSMUSG00000002365
AA Change: V30A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

94% (64/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	T	11: 11,539,375 (GRCm39)		probably null	Het
Abtb2	G	T	2: 103,397,408 (GRCm39)	G113C	probably damaging	Het
Acsm5	A	G	7: 119,134,034 (GRCm39)	T272A	probably damaging	Het
Adprs	C	T	4: 126,211,102 (GRCm39)	E272K	possibly damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Atp7b	A	C	8: 22,518,472 (GRCm39)	I122S	possibly damaging	Het
B230219D22Rik	T	C	13: 55,847,288 (GRCm39)	Y134H	probably damaging	Het
Bnc1	A	G	7: 81,618,462 (GRCm39)	S868P	probably damaging	Het
Camta1	T	C	4: 151,229,926 (GRCm39)	E302G	probably damaging	Het
Car1	A	G	3: 14,835,933 (GRCm39)	Y129H	probably damaging	Het
Cdh22	T	C	2: 164,984,197 (GRCm39)	T352A	probably benign	Het
Ckmt2	T	C	13: 92,009,282 (GRCm39)	E215G	probably benign	Het
Cyb5r4	T	G	9: 86,941,130 (GRCm39)		probably null	Het
Dhrs13	A	G	11: 77,923,256 (GRCm39)		probably benign	Het
Dsg1c	G	A	18: 20,397,901 (GRCm39)	A34T	probably benign	Het
Epb41l1	T	C	2: 156,363,330 (GRCm39)	V613A	probably benign	Het
Fam114a1	A	G	5: 65,166,388 (GRCm39)	M240V	probably damaging	Het
Gm15455	T	C	1: 33,877,257 (GRCm39)		noncoding transcript	Het
Herc1	T	G	9: 66,383,742 (GRCm39)		probably benign	Het
Ifna11	T	C	4: 88,738,314 (GRCm39)	V40A	probably benign	Het
Ifna15	T	C	4: 88,476,266 (GRCm39)	N73D	probably benign	Het
Imp4	A	T	1: 34,482,016 (GRCm39)	L45F	probably damaging	Het
Jak3	G	A	8: 72,138,702 (GRCm39)	A967T	probably damaging	Het
Krtap19-2	A	T	16: 88,670,916 (GRCm39)	Y76*	probably null	Het
Map4k5	A	T	12: 69,871,388 (GRCm39)	N492K	probably damaging	Het
Mycbp2	C	T	14: 103,534,375 (GRCm39)	R372H	probably damaging	Het
Nos2	G	A	11: 78,813,140 (GRCm39)	S16N	probably benign	Het
Nr2c2	A	G	6: 92,116,803 (GRCm39)	T2A	probably damaging	Het
Nup188	T	C	2: 30,199,232 (GRCm39)	Y267H	probably damaging	Het
Nxph2	G	A	2: 23,211,556 (GRCm39)		probably null	Het
Or5b107	T	A	19: 13,142,955 (GRCm39)	D192E	probably benign	Het
Or5b96	T	A	19: 12,867,770 (GRCm39)	H57L	probably damaging	Het
Or9i1b	T	A	19: 13,896,822 (GRCm39)	V146E	possibly damaging	Het
Otof	C	T	5: 30,541,783 (GRCm39)	E761K	possibly damaging	Het
Pik3r1	C	T	13: 101,825,952 (GRCm39)	R37Q	probably damaging	Het
Pkn3	T	C	2: 29,975,293 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,770,590 (GRCm39)	V14A	probably damaging	Het
Ptpn14	T	C	1: 189,519,083 (GRCm39)	S38P	probably damaging	Het
Raf1	G	A	6: 115,597,196 (GRCm39)	Q35*	probably null	Het
Rps3a1	C	A	3: 86,045,338 (GRCm39)	E251D	probably benign	Het
Scd1	C	T	19: 44,390,148 (GRCm39)	V207M	probably damaging	Het
Shq1	A	G	6: 100,607,954 (GRCm39)	V319A	probably benign	Het
Slc4a8	T	C	15: 100,693,702 (GRCm39)	Y416H	probably damaging	Het
Slco1a5	T	C	6: 142,208,363 (GRCm39)	T143A	probably benign	Het
Slco1a5	C	T	6: 142,212,090 (GRCm39)	G90D	probably damaging	Het
Spdya	T	C	17: 71,895,561 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,162,368 (GRCm39)	N75I	probably damaging	Het
Sv2b	A	T	7: 74,807,173 (GRCm39)	M159K	probably damaging	Het
Tdh	A	T	14: 63,733,575 (GRCm39)	Y89*	probably null	Het
Tmc7	A	G	7: 118,142,588 (GRCm39)	F600S	probably damaging	Het
Trpa1	T	A	1: 14,981,090 (GRCm39)	H104L	probably damaging	Het
Ttn	G	A	2: 76,678,984 (GRCm39)		probably benign	Het
Vmn1r113	A	G	7: 20,521,419 (GRCm39)	I70M	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,188 (GRCm39)	M138V	probably benign	Het
Zfc3h1	G	A	10: 115,240,116 (GRCm39)	V550I	probably benign	Het
Zfp335	G	T	2: 164,752,564 (GRCm39)	S60*	probably null	Het
Zfp7	T	C	15: 76,776,010 (GRCm39)	M684T	probably benign	Het
Zfp984	T	A	4: 147,839,903 (GRCm39)	H316L	probably damaging	Het
Zmym2	T	A	14: 57,193,637 (GRCm39)	Y1151N	possibly damaging	Het

Other mutations in Snx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Snx9	APN	17	5,949,636 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAGCTAGGTGTCCTGAACTGTC -3'
(R):5'- ATGCAGGGGCTGAACTTCTC -3'

Sequencing Primer
(F):5'- GCACTGTCAGGTTCACACAGTTG -3'
(R):5'- AACTTCTCTAGGTGTGCATGTGACAG -3'

Posted On

2016-06-15