Mutagenetix > Incidental Mutation

Incidental Mutation 'R6321:Snx6'

510360

Institutional Source

Beutler Lab

Gene Symbol

Snx6

Ensembl Gene

ENSMUSG00000005656

Gene Name

sorting nexin 6

Synonyms

2010006G21Rik, 2610032J07Rik, 2810425K19Rik

MMRRC Submission

044418-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R6321 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54793124-54842464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54798798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 221 (V221F)

Ref Sequence

ENSEMBL: ENSMUSP00000151488 (fasta)

Gene Model

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

AlphaFold

Q6P8X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000005798
AA Change: V337F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: V337F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000218934
AA Change: V221F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219722

Meta Mutation Damage Score

0.2349

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	T	13: 111,391,915 (GRCm39)	M83I	probably damaging	Het
Adgra2	T	A	8: 27,604,190 (GRCm39)	M460K	probably benign	Het
Aldh16a1	G	A	7: 44,799,189 (GRCm39)	A31V	probably damaging	Het
Ank2	T	C	3: 126,740,587 (GRCm39)		probably benign	Het
Arrdc4	C	A	7: 68,398,793 (GRCm39)	D8Y	probably benign	Het
Auts2	A	G	5: 131,494,953 (GRCm39)	Y110H	probably damaging	Het
Blnk	A	T	19: 40,922,903 (GRCm39)	Y405N	probably damaging	Het
Capsl	T	C	15: 9,461,855 (GRCm39)	F84L	probably damaging	Het
Cdcp3	T	C	7: 130,858,735 (GRCm39)		probably null	Het
Cenpl	T	C	1: 160,902,465 (GRCm39)	S46P	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chrnd	C	T	1: 87,119,951 (GRCm39)	R90C	probably damaging	Het
Cyfip2	A	T	11: 46,182,347 (GRCm39)	M37K	probably benign	Het
Dnah11	T	C	12: 118,106,027 (GRCm39)	E625G	possibly damaging	Het
Dnah5	T	G	15: 28,372,557 (GRCm39)	V2936G	probably damaging	Het
Dock9	A	G	14: 121,783,433 (GRCm39)	M2055T	probably damaging	Het
Epb41l2	A	T	10: 25,344,026 (GRCm39)	R274S	probably damaging	Het
Erich3	A	T	3: 154,433,139 (GRCm39)	H371L	probably damaging	Het
Evi5l	C	A	8: 4,253,080 (GRCm39)	P454T	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Golgb1	T	A	16: 36,738,559 (GRCm39)	C2299*	probably null	Het
Heca	G	C	10: 17,790,991 (GRCm39)		probably null	Het
Hecw1	C	T	13: 14,697,414 (GRCm39)	A9T	probably benign	Het
Hs3st6	T	A	17: 24,977,542 (GRCm39)	W341R	probably damaging	Het
Kidins220	C	T	12: 25,107,533 (GRCm39)	S1571L	probably benign	Het
Klk1b9	A	G	7: 43,443,732 (GRCm39)	E82G	probably damaging	Het
Ltbp3	C	A	19: 5,795,685 (GRCm39)	H180Q	probably benign	Het
Mecom	A	G	3: 30,034,741 (GRCm39)	Y502H	probably damaging	Het
Mfsd2a	A	G	4: 122,843,165 (GRCm39)	V372A	probably benign	Het
Mrgprd	A	G	7: 144,875,879 (GRCm39)	D250G	probably benign	Het
Muc2	A	G	7: 141,287,397 (GRCm39)	D191G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	C	A	13: 100,436,909 (GRCm39)	S538I	probably benign	Het
Or4f59	A	G	2: 111,873,113 (GRCm39)	V88A	probably benign	Het
Or52w1	A	G	7: 105,018,109 (GRCm39)	Y192C	probably damaging	Het
Pnpla6	T	C	8: 3,594,015 (GRCm39)	V1342A	probably benign	Het
Ppp1r9a	A	G	6: 5,115,151 (GRCm39)	E789G	probably damaging	Het
Prkdc	A	G	16: 15,532,783 (GRCm39)	T1471A	probably benign	Het
Scarb1	T	A	5: 125,381,395 (GRCm39)	S50C	probably damaging	Het
Slc4a8	C	T	15: 100,687,045 (GRCm39)	T283M	probably damaging	Het
Smc2	C	A	4: 52,462,814 (GRCm39)	D601E	probably benign	Het
Spag17	A	C	3: 99,995,743 (GRCm39)	K1794T	probably benign	Het
Tpo	A	G	12: 30,153,107 (GRCm39)	W416R	probably damaging	Het
Ttc13	C	A	8: 125,409,930 (GRCm39)	K427N	probably damaging	Het
Upf3a	A	T	8: 13,837,466 (GRCm39)	N137I	possibly damaging	Het
Ush2a	C	T	1: 188,581,243 (GRCm39)	Q3708*	probably null	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zfp451	A	G	1: 33,852,816 (GRCm39)	F33L	probably damaging	Het
Zfp454	A	G	11: 50,763,876 (GRCm39)	F408L	probably damaging	Het
Zfp639	T	C	3: 32,571,237 (GRCm39)	Y40H	probably damaging	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
R6878:Snx6	UTSW	12	54,810,386 (GRCm39)	splice site	probably null
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'- AATGCAGCAACTCTTCTTGTC -3'
(R):5'- ACATTTAGGGGCTTGGAGC -3'

Sequencing Primer
(F):5'- GCAGCAACTCTTCTTGTCTTAAAATC -3'
(R):5'- GATGGTCCTGAGTTCAAATCCCAG -3'

Posted On

2018-04-02