Mutagenetix > Incidental Mutation

Incidental Mutation 'R6878:Snx6'

536526

Institutional Source

Beutler Lab

Gene Symbol

Snx6

Ensembl Gene

ENSMUSG00000005656

Gene Name

sorting nexin 6

Synonyms

2010006G21Rik, 2610032J07Rik, 2810425K19Rik

MMRRC Submission

044974-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R6878 (G1)

Quality Score

149.008

Status

Validated

Chromosome

Chromosomal Location

54793124-54842464 bp(-) (GRCm39)

Type of Mutation

splice site (19 bp from exon)

DNA Base Change (assembly)

T to C at 54810386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005798] [ENSMUST00000218934] [ENSMUST00000219781]

AlphaFold

Q6P8X1

Predicted Effect

probably null
Transcript: ENSMUST00000005798

SMART Domains

Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656

Domain	Start	End	E-Value	Type
Pfam:PX	29	170	2.8e-21	PFAM
Pfam:Vps5	184	399	2e-16	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218934

Predicted Effect

probably benign
Transcript: ENSMUST00000219781

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

98% (44/45)

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 phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,581,613 (GRCm39)	N4810K	probably benign	Het
Arhgap26	A	T	18: 39,360,465 (GRCm39)	I397F	probably damaging	Het
Arhgap35	A	G	7: 16,299,038 (GRCm39)	V9A	probably benign	Het
Asl	A	G	5: 130,053,133 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,208 (GRCm39)	L672Q	probably damaging	Het
B4galt1	T	C	4: 40,809,694 (GRCm39)	D316G	probably damaging	Het
Bpifb2	A	G	2: 153,717,832 (GRCm39)		probably benign	Het
Ccl1	T	C	11: 82,070,519 (GRCm39)	I18V	probably benign	Het
Cd47	A	G	16: 49,731,232 (GRCm39)	E278G	possibly damaging	Het
Cilp	G	A	9: 65,187,129 (GRCm39)	G1075S	probably damaging	Het
Eml2	T	C	7: 18,934,537 (GRCm39)	V604A	probably benign	Het
Fancm	A	T	12: 65,163,197 (GRCm39)	R1454*	probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm4302	GCA	GCACCA	10: 100,177,377 (GRCm39)		probably benign	Het
Gm4302	CAG	CAGAAG	10: 100,177,369 (GRCm39)		probably benign	Het
Hif1a	T	C	12: 73,975,055 (GRCm39)	M147T	possibly damaging	Het
Hps5	C	G	7: 46,433,058 (GRCm39)	A221P	probably damaging	Het
Lrrc49	A	G	9: 60,587,431 (GRCm39)	S67P	probably damaging	Het
Madd	T	A	2: 91,000,202 (GRCm39)	N568I	probably damaging	Het
Meikin	T	C	11: 54,302,712 (GRCm39)	S375P	possibly damaging	Het
Mfsd6	G	T	1: 52,747,912 (GRCm39)	Q318K	probably damaging	Het
Mis18a	A	T	16: 90,518,644 (GRCm39)	I106N	probably damaging	Het
Myl2	T	C	5: 122,243,140 (GRCm39)	I148T	probably benign	Het
Myrf	T	C	19: 10,193,842 (GRCm39)	Q730R	possibly damaging	Het
Nf1	T	C	11: 79,325,708 (GRCm39)	L560P	probably damaging	Het
Npat	A	G	9: 53,467,899 (GRCm39)	T285A	probably benign	Het
Ntrk3	T	A	7: 77,954,120 (GRCm39)	D547V	probably benign	Het
Obox2	G	T	7: 15,131,245 (GRCm39)	S117I	probably benign	Het
Or8k32	A	G	2: 86,369,109 (GRCm39)	L48P	probably damaging	Het
Parva	T	A	7: 112,175,656 (GRCm39)	N226K	possibly damaging	Het
Pcdha3	T	A	18: 37,080,416 (GRCm39)	L386*	probably null	Het
Ppip5k1	A	G	2: 121,142,417 (GRCm39)	F1323S	probably benign	Het
Prkdc	T	C	16: 15,594,936 (GRCm39)	V2771A	probably benign	Het
Prl7c1	T	C	13: 27,962,827 (GRCm39)	T59A	possibly damaging	Het
Rab15	T	C	12: 76,851,257 (GRCm39)	T20A	probably benign	Het
Rp1l1	A	G	14: 64,269,301 (GRCm39)	E1629G	probably benign	Het
Rpap1	A	T	2: 119,608,657 (GRCm39)	L235Q	probably damaging	Het
Sema3a	A	T	5: 13,505,511 (GRCm39)	I91F	possibly damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Speer4f2	T	G	5: 17,580,765 (GRCm39)	M114R	probably damaging	Het
Syne1	T	C	10: 5,370,388 (GRCm39)	D264G	possibly damaging	Het
Tbl1xr1	T	G	3: 22,257,368 (GRCm39)	N410K	possibly damaging	Het
Tmed7	A	T	18: 46,726,532 (GRCm39)	D74E	probably damaging	Het
Upk3b	T	C	5: 136,068,001 (GRCm39)	V64A	probably benign	Het
Vmn2r29	A	G	7: 7,244,863 (GRCm39)	V337A	probably benign	Het
Yy1	C	G	12: 108,780,682 (GRCm39)	P352A	probably damaging	Het
Zfp1005	C	T	2: 150,108,406 (GRCm39)	L56F	possibly damaging	Het
Zfp873	T	C	10: 81,896,529 (GRCm39)	I457T	probably benign	Het

Other mutations in Snx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01340:Snx6	APN	12	54,801,094 (GRCm39)	missense	probably damaging	0.99
IGL02682:Snx6	APN	12	54,801,130 (GRCm39)	missense	probably damaging	1.00
IGL02995:Snx6	APN	12	54,842,295 (GRCm39)	splice site	probably benign
IGL03240:Snx6	APN	12	54,830,228 (GRCm39)	missense	probably damaging	0.98
IGL03353:Snx6	APN	12	54,812,469 (GRCm39)	splice site	probably benign
PIT4362001:Snx6	UTSW	12	54,814,815 (GRCm39)	missense	possibly damaging	0.80
R0458:Snx6	UTSW	12	54,814,921 (GRCm39)	nonsense	probably null
R0610:Snx6	UTSW	12	54,798,574 (GRCm39)	missense	probably damaging	1.00
R0689:Snx6	UTSW	12	54,810,441 (GRCm39)	missense	probably benign	0.00
R1818:Snx6	UTSW	12	54,830,259 (GRCm39)	missense	possibly damaging	0.95
R1819:Snx6	UTSW	12	54,830,259 (GRCm39)	missense	possibly damaging	0.95
R4946:Snx6	UTSW	12	54,817,528 (GRCm39)	missense	probably damaging	1.00
R5275:Snx6	UTSW	12	54,830,807 (GRCm39)	missense	probably damaging	1.00
R5373:Snx6	UTSW	12	54,817,513 (GRCm39)	missense	probably damaging	0.99
R5374:Snx6	UTSW	12	54,817,513 (GRCm39)	missense	probably damaging	0.99
R5497:Snx6	UTSW	12	54,803,846 (GRCm39)	missense	probably damaging	0.98
R5907:Snx6	UTSW	12	54,801,104 (GRCm39)	missense	probably damaging	1.00
R5947:Snx6	UTSW	12	54,817,549 (GRCm39)	nonsense	probably null
R6178:Snx6	UTSW	12	54,807,249 (GRCm39)	missense	probably damaging	0.99
R6287:Snx6	UTSW	12	54,793,813 (GRCm39)	missense	possibly damaging	0.75
R6321:Snx6	UTSW	12	54,798,798 (GRCm39)	missense	probably damaging	1.00
R7055:Snx6	UTSW	12	54,830,864 (GRCm39)	missense	probably damaging	1.00
R8227:Snx6	UTSW	12	54,798,756 (GRCm39)	missense	possibly damaging	0.82
R8899:Snx6	UTSW	12	54,812,423 (GRCm39)	missense	probably benign	0.06
R9606:Snx6	UTSW	12	54,814,811 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTTGGAGGCTAGCGACATGAAG -3'
(R):5'- CGAGCATGTGTAAACAGCC -3'

Sequencing Primer
(F):5'- TCGTATCAGGTGGCTCACAAC -3'
(R):5'- GAGCATGTGTAAACAGCCACTGC -3'

Posted On

2018-10-18