Mutagenetix > Incidental Mutation

Incidental Mutation 'R4778:Snx1'

368092

Institutional Source

Beutler Lab

Gene Symbol

Snx1

Ensembl Gene

ENSMUSG00000032382

Gene Name

sorting nexin 1

Synonyms

MMRRC Submission

042414-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4778 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65995409-66032168 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 66008698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120746 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034946

SMART Domains

Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382

Domain	Start	End	E-Value	Type
Pfam:Sorting_nexin	10	137	2.6e-29	PFAM
PX	140	267	7.59e-40	SMART
Pfam:Vps5	283	516	3.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137542

SMART Domains

Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382

Domain	Start	End	E-Value	Type
Pfam:Sorting_nexin	3	89	6.9e-25	PFAM
PX	92	192	2.37e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146893

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (54/55)

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 endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,615,342 (GRCm39)	N1349S	probably damaging	Het
Ahnak	T	C	19: 8,989,339 (GRCm39)	V3541A	possibly damaging	Het
Arhgap33	T	A	7: 30,231,518 (GRCm39)	T156S	probably benign	Het
Bltp1	T	A	3: 36,991,214 (GRCm39)	M897K	possibly damaging	Het
Card11	G	T	5: 140,869,537 (GRCm39)		probably null	Het
Cdh3	T	A	8: 107,270,458 (GRCm39)	I445N	probably damaging	Het
Csrp3	T	G	7: 48,482,311 (GRCm39)	K169N	probably damaging	Het
Cyp2c69	T	C	19: 39,866,038 (GRCm39)	N185S	probably benign	Het
Czib	T	C	4: 107,749,195 (GRCm39)	V64A	probably damaging	Het
Dpysl3	C	T	18: 43,487,867 (GRCm39)	V159I	probably benign	Het
Erc1	A	T	6: 119,774,298 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,491,363 (GRCm39)	V3808A	probably benign	Het
Fbxw19	T	C	9: 109,323,714 (GRCm39)	D87G	probably damaging	Het
Gm1123	T	C	9: 98,900,560 (GRCm39)	I99V	probably benign	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hand1	T	C	11: 57,722,449 (GRCm39)	D55G	possibly damaging	Het
Lrguk	T	A	6: 34,033,015 (GRCm39)	I227K	probably damaging	Het
Mdn1	C	T	4: 32,683,583 (GRCm39)	R726*	probably null	Het
Minar1	T	A	9: 89,485,155 (GRCm39)	I81F	probably damaging	Het
Myo16	T	A	8: 10,619,694 (GRCm39)	V1415E	probably damaging	Het
Myof	T	C	19: 37,938,011 (GRCm39)	D901G	probably damaging	Het
Naip1	A	G	13: 100,563,156 (GRCm39)	Y670H	probably damaging	Het
Nmd3	T	A	3: 69,638,924 (GRCm39)	Y171*	probably null	Het
Notch4	C	T	17: 34,801,485 (GRCm39)	A1111V	possibly damaging	Het
Nphp4	T	A	4: 152,640,748 (GRCm39)	D1038E	probably benign	Het
Or2ag1b	A	C	7: 106,288,874 (GRCm39)	S21R	probably damaging	Het
Or5p60	A	T	7: 107,723,687 (GRCm39)	I261N	possibly damaging	Het
Osbpl10	C	T	9: 114,938,598 (GRCm39)	S86L	probably damaging	Het
Pcsk6	G	A	7: 65,608,893 (GRCm39)	G252R	probably damaging	Het
Pole	T	G	5: 110,478,698 (GRCm39)	H15Q	probably benign	Het
Pstpip1	A	G	9: 56,035,904 (GRCm39)	D383G	possibly damaging	Het
Ptprq	T	C	10: 107,426,883 (GRCm39)	T1551A	probably benign	Het
Rasgrf2	A	G	13: 92,131,780 (GRCm39)	F626L	probably damaging	Het
Retreg1	C	A	15: 25,971,871 (GRCm39)	N394K	possibly damaging	Het
Rpl7-ps8	T	A	15: 59,083,252 (GRCm39)		noncoding transcript	Het
Rpp14	T	A	14: 8,090,203 (GRCm38)	D42E	probably benign	Het
Rrp8	T	A	7: 105,386,481 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Stau1	A	T	2: 166,805,442 (GRCm39)	N51K	probably benign	Het
Tdrd5	T	A	1: 156,083,157 (GRCm39)	D960V	probably damaging	Het
Tex10	T	C	4: 48,436,468 (GRCm39)	D750G	probably damaging	Het
Tmem43	T	C	6: 91,459,237 (GRCm39)	V236A	probably damaging	Het
Tmem89	T	C	9: 108,744,443 (GRCm39)	V112A	probably damaging	Het
Traf7	C	G	17: 24,729,412 (GRCm39)		probably benign	Het
Vmn1r41	A	C	6: 89,724,257 (GRCm39)	K266T	probably damaging	Het
Vmn2r65	T	C	7: 84,592,801 (GRCm39)	K469E	possibly damaging	Het
Zfp831	A	G	2: 174,488,600 (GRCm39)	T1092A	possibly damaging	Het
Zfp981	T	A	4: 146,622,112 (GRCm39)	S346T	probably benign	Het

Other mutations in Snx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00806:Snx1	APN	9	65,996,867 (GRCm39)	nonsense	probably null
IGL01015:Snx1	APN	9	66,001,713 (GRCm39)	missense	possibly damaging	0.72
IGL02070:Snx1	APN	9	66,005,731 (GRCm39)	missense	probably damaging	0.97
IGL02225:Snx1	APN	9	66,016,903 (GRCm39)	missense	probably benign	0.03
IGL02984:Snx1	APN	9	65,996,390 (GRCm39)	splice site	probably benign
IGL03069:Snx1	APN	9	66,001,906 (GRCm39)	missense	probably benign
IGL03188:Snx1	APN	9	66,001,734 (GRCm39)	missense	probably damaging	1.00
FR4589:Snx1	UTSW	9	66,012,208 (GRCm39)	small insertion	probably benign
FR4976:Snx1	UTSW	9	66,012,212 (GRCm39)	small insertion	probably benign
FR4976:Snx1	UTSW	9	66,012,211 (GRCm39)	small insertion	probably benign
R0116:Snx1	UTSW	9	65,995,821 (GRCm39)	nonsense	probably null
R0243:Snx1	UTSW	9	66,008,608 (GRCm39)	splice site	probably benign
R0755:Snx1	UTSW	9	66,005,738 (GRCm39)	missense	probably damaging	1.00
R0981:Snx1	UTSW	9	66,016,841 (GRCm39)	missense	probably benign
R1495:Snx1	UTSW	9	66,003,879 (GRCm39)	missense	probably benign	0.23
R1528:Snx1	UTSW	9	66,016,825 (GRCm39)	missense	probably damaging	1.00
R1725:Snx1	UTSW	9	66,005,611 (GRCm39)	critical splice donor site	probably null
R3752:Snx1	UTSW	9	66,012,933 (GRCm39)	splice site	probably null
R4487:Snx1	UTSW	9	65,996,877 (GRCm39)	missense	possibly damaging	0.90
R4975:Snx1	UTSW	9	66,012,187 (GRCm39)	nonsense	probably null
R5043:Snx1	UTSW	9	66,004,718 (GRCm39)	missense	probably benign	0.04
R6346:Snx1	UTSW	9	66,001,930 (GRCm39)	missense	possibly damaging	0.62
R8063:Snx1	UTSW	9	66,004,676 (GRCm39)	unclassified	probably benign
R9679:Snx1	UTSW	9	65,998,002 (GRCm39)	missense	probably benign	0.14
RF045:Snx1	UTSW	9	66,012,204 (GRCm39)	small insertion	probably benign
T0722:Snx1	UTSW	9	66,012,209 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAATGTAGACTTGCTATAGCTTG -3'
(R):5'- GTCTAACTCAAACTGGGGCC -3'

Sequencing Primer
(F):5'- CTTGCTATAGCTTGATAAATAGGAGG -3'
(R):5'- CCAGCCAGCATCCGTAG -3'

Posted On

2015-12-29