Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Snx6'

460730

Institutional Source

Beutler Lab

Gene Symbol

Snx6

Ensembl Gene

ENSMUSG00000005656

Gene Name

sorting nexin 6

Synonyms

2010006G21Rik, 2610032J07Rik, 2810425K19Rik

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R5907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54793124-54842464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54801104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 298 (Y298H)

Ref Sequence

ENSEMBL: ENSMUSP00000005798 (fasta)

Gene Model

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

AlphaFold

Q6P8X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000005798
AA Change: Y298H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: Y298H

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: Y182H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219722

Meta Mutation Damage Score

0.5633

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
Adcy7	A	G	8: 89,038,856 (GRCm39)	T291A	possibly damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	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
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
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'- CTTGCTCCAGGAAAGTTACTTTC -3'
(R):5'- GCCATTGCAGTAGATTCTATAATGG -3'

Sequencing Primer
(F):5'- GCCAAGATAGCCTCACATTCATTTC -3'
(R):5'- GCAGTAGATTCTATAATGGTGAAGC -3'

Posted On

2017-02-28