Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Snx6'

547874

Institutional Source

Beutler Lab

Gene Symbol

Snx6

Ensembl Gene

ENSMUSG00000005656

Gene Name

sorting nexin 6

Synonyms

2010006G21Rik, 2610032J07Rik, 2810425K19Rik

MMRRC Submission

045152-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54793124-54842464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54830864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 32 (L32Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151460 (fasta)

Gene Model

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

AlphaFold

Q6P8X1

Predicted Effect

probably damaging
Transcript: ENSMUST00000005798
AA Change: L32Q

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

SMART Domains

Protein: ENSMUSP00000005798
Gene: ENSMUSG00000005656
AA Change: L32Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218934

Predicted Effect

probably damaging
Transcript: ENSMUST00000219781
AA Change: L32Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Acmsd	A	T	1: 127,681,570 (GRCm39)	M178L	probably benign	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585 (GRCm39)	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fndc4	T	C	5: 31,451,522 (GRCm39)	E153G	probably benign	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,128,735 (GRCm39)	E644*	probably null	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,550,523 (GRCm39)	V28A	probably benign	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	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
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
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'- ATTTGGCAATGAACTCTGTAAAGAC -3'
(R):5'- TGTTGGTCAAGACTACATAGCTG -3'

Sequencing Primer
(F):5'- ACAGCTACTTGGTCAGACTAGGTTC -3'
(R):5'- CCAGTAATGCAGAGGGTCCTAC -3'

Posted On

2019-05-13