Mutagenetix > Incidental Mutation

Incidental Mutation 'R5964:Snx16'

471928

Institutional Source

Beutler Lab

Gene Symbol

Snx16

Ensembl Gene

ENSMUSG00000027534

Gene Name

sorting nexin 16

Synonyms

4930522N22Rik

MMRRC Submission

044149-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10482877-10505162 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10499541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 163 (R163Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029047] [ENSMUST00000099223] [ENSMUST00000195822]

AlphaFold

Q8C080

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029047
AA Change: R163Q

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029047
Gene: ENSMUSG00000027534
AA Change: R163Q

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
PX	110	214	1.65e-17	SMART
coiled coil region	230	272	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099223
AA Change: R163Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096828
Gene: ENSMUSG00000027534
AA Change: R163Q

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
PX	110	214	1.65e-17	SMART
coiled coil region	230	274	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195822

SMART Domains

Protein: ENSMUSP00000141230
Gene: ENSMUSG00000027534

Domain	Start	End	E-Value	Type
low complexity region	27	40	N/A	INTRINSIC
Blast:PX	105	134	2e-6	BLAST

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

96% (87/91)

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. The protein encoded by this gene associates with late endosome membranes as is involved in tubule formation, cholesterol transport, and transport of tetraspanin CD81. The encoded protein also inhibits cell migration and tumorigenesis. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	G	A	3: 89,250,874 (GRCm39)	Q581*	probably null	Het
Agl	A	G	3: 116,587,423 (GRCm39)	V44A	probably damaging	Het
Alpk3	T	A	7: 80,742,008 (GRCm39)	D608E	possibly damaging	Het
Aspm	C	A	1: 139,382,965 (GRCm39)		probably benign	Het
Bbs2	T	C	8: 94,794,995 (GRCm39)	N692S	probably benign	Het
Bend4	A	G	5: 67,575,161 (GRCm39)	I240T	probably benign	Het
Casp8	G	T	1: 58,872,895 (GRCm39)	R277L	possibly damaging	Het
Ccdc61	A	T	7: 18,634,865 (GRCm39)	I123N	probably damaging	Het
Ccr9	T	G	9: 123,608,499 (GRCm39)	I60M	probably benign	Het
Cd163	T	A	6: 124,303,531 (GRCm39)	W1066R	probably benign	Het
Cd226	A	T	18: 89,225,307 (GRCm39)	H68L	probably benign	Het
Cdkn3	T	A	14: 47,004,674 (GRCm39)	C79S	probably null	Het
Cnnm1	A	T	19: 43,458,162 (GRCm39)	E658V	probably benign	Het
Cog7	T	C	7: 121,555,252 (GRCm39)	R304G	probably damaging	Het
Cpt1a	T	A	19: 3,415,760 (GRCm39)	V286E	possibly damaging	Het
Creg2	C	A	1: 39,664,122 (GRCm39)	R212L	probably benign	Het
Cyp26a1	T	G	19: 37,688,410 (GRCm39)	S311A	probably damaging	Het
Cyp2b10	T	C	7: 25,625,648 (GRCm39)	Y484H	probably benign	Het
Cyp3a44	T	A	5: 145,725,277 (GRCm39)	Y308F	possibly damaging	Het
Dlg5	A	G	14: 24,214,157 (GRCm39)	V744A	probably benign	Het
Dlgap2	T	A	8: 14,777,128 (GRCm39)	Y124*	probably null	Het
Dnah3	T	C	7: 119,522,103 (GRCm39)	D4030G	probably benign	Het
Dnah5	A	G	15: 28,458,730 (GRCm39)	T4456A	possibly damaging	Het
Dtx2	T	A	5: 136,052,553 (GRCm39)	V347D	probably benign	Het
Gigyf2	C	T	1: 87,334,889 (GRCm39)	T294M	probably damaging	Het
Gli3	C	G	13: 15,900,747 (GRCm39)	S1378*	probably null	Het
Gnao1	G	A	8: 94,693,627 (GRCm39)	D337N	probably benign	Het
Gp2	T	A	7: 119,048,352 (GRCm39)	Q422L	probably benign	Het
Ifit1	T	A	19: 34,625,869 (GRCm39)	M335K	possibly damaging	Het
Ism1	T	C	2: 139,520,677 (GRCm39)	S30P	probably benign	Het
Itgax	A	G	7: 127,739,619 (GRCm39)	D677G	probably damaging	Het
Kansl1l	G	A	1: 66,765,081 (GRCm39)	A442V	probably damaging	Het
Kif13a	T	C	13: 46,925,000 (GRCm39)	I311M	probably damaging	Het
Lrrc37	A	G	11: 103,432,946 (GRCm39)	S1232P	possibly damaging	Het
Lsm14b	T	A	2: 179,673,218 (GRCm39)	S84R	probably benign	Het
Lzts3	A	G	2: 130,478,208 (GRCm39)	Y297H	probably damaging	Het
Map4k3	A	G	17: 80,952,191 (GRCm39)	I205T	probably damaging	Het
Matn2	A	T	15: 34,410,311 (GRCm39)	N501I	probably damaging	Het
Mctp2	T	C	7: 71,752,925 (GRCm39)	E776G	probably damaging	Het
Mex3d	A	T	10: 80,218,421 (GRCm39)	N265K	probably damaging	Het
Myo5a	A	G	9: 75,111,115 (GRCm39)	T1534A	probably benign	Het
Ncoa7	T	C	10: 30,580,632 (GRCm39)	M35V	probably damaging	Het
Nek4	G	A	14: 30,679,036 (GRCm39)		probably null	Het
Ngrn	T	C	7: 79,911,681 (GRCm39)		probably null	Het
Nlrp1a	T	A	11: 71,013,846 (GRCm39)	Q468L	probably benign	Het
Or11g27	T	A	14: 50,771,655 (GRCm39)	M262K	probably damaging	Het
Or5b98	A	C	19: 12,931,895 (GRCm39)	Q314P	probably benign	Het
Phtf2	T	C	5: 20,980,932 (GRCm39)	D433G	probably damaging	Het
Prdm13	G	A	4: 21,683,852 (GRCm39)	Q140*	probably null	Het
Prtg	G	A	9: 72,799,536 (GRCm39)	G778E	probably benign	Het
Pum3	T	C	19: 27,397,451 (GRCm39)	E308G	probably damaging	Het
Pwp1	T	G	10: 85,718,750 (GRCm39)	F306V	probably damaging	Het
Rab24	A	T	13: 55,469,389 (GRCm39)	Y27N	probably damaging	Het
Rnf215	T	C	11: 4,085,898 (GRCm39)	F126L	probably benign	Het
Samd13	A	T	3: 146,386,451 (GRCm39)		probably benign	Het
Serac1	T	A	17: 6,115,324 (GRCm39)	H213L	probably benign	Het
Slc45a3	A	G	1: 131,905,811 (GRCm39)	E278G	probably damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slx4	A	T	16: 3,818,815 (GRCm39)		probably null	Het
Smarca4	C	A	9: 21,558,726 (GRCm39)	T631K	probably benign	Het
Stk40	T	C	4: 126,022,688 (GRCm39)	V140A	probably damaging	Het
Tcf12	A	T	9: 71,775,522 (GRCm39)	D409E	probably damaging	Het
Tgfbr2	G	T	9: 115,939,323 (GRCm39)	T168K	possibly damaging	Het
Ticam1	G	T	17: 56,578,703 (GRCm39)	H131N	probably damaging	Het
Ttn	C	A	2: 76,660,232 (GRCm39)	R7458I	possibly damaging	Het
Ttn	C	A	2: 76,543,855 (GRCm39)	E31298*	probably null	Het
Usp7	A	G	16: 8,529,966 (GRCm39)	V133A	possibly damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wdfy4	T	C	14: 32,827,968 (GRCm39)	E1118G	probably damaging	Het
Zfp81	G	C	17: 33,555,819 (GRCm39)	P3A	probably damaging	Het
Znhit6	A	G	3: 145,282,688 (GRCm39)	K21R	possibly damaging	Het

Other mutations in Snx16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Snx16	APN	3	10,484,219 (GRCm39)	missense	probably damaging	1.00
IGL02682:Snx16	APN	3	10,503,235 (GRCm39)	missense	probably damaging	1.00
R0539:Snx16	UTSW	3	10,491,278 (GRCm39)	missense	probably damaging	0.98
R1469:Snx16	UTSW	3	10,499,431 (GRCm39)	missense	probably damaging	1.00
R1469:Snx16	UTSW	3	10,499,431 (GRCm39)	missense	probably damaging	1.00
R1771:Snx16	UTSW	3	10,484,221 (GRCm39)	missense	probably damaging	1.00
R5262:Snx16	UTSW	3	10,502,892 (GRCm39)	missense	probably damaging	1.00
R5693:Snx16	UTSW	3	10,485,318 (GRCm39)	missense	probably benign	0.00
R5969:Snx16	UTSW	3	10,503,217 (GRCm39)	missense	possibly damaging	0.93
R6826:Snx16	UTSW	3	10,503,148 (GRCm39)	missense	probably damaging	0.99
R7456:Snx16	UTSW	3	10,500,541 (GRCm39)	nonsense	probably null
R7996:Snx16	UTSW	3	10,500,509 (GRCm39)	missense	probably benign	0.11
R8095:Snx16	UTSW	3	10,503,244 (GRCm39)	start codon destroyed	probably null	1.00
R8822:Snx16	UTSW	3	10,484,125 (GRCm39)	missense	probably benign
R8880:Snx16	UTSW	3	10,484,193 (GRCm39)	missense	probably benign	0.01
R9188:Snx16	UTSW	3	10,485,835 (GRCm39)	missense	possibly damaging	0.88
R9425:Snx16	UTSW	3	10,499,520 (GRCm39)	missense	probably damaging	1.00
Z1177:Snx16	UTSW	3	10,485,918 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAGAGAAGTAATTACATCCCACCC -3'
(R):5'- GGCAACAGAAAATGGCTTACC -3'

Sequencing Primer
(F):5'- CCACCCTCCAATATATGCTGATATG -3'
(R):5'- CTGAGTTAAACGCTGTCTC -3'

Posted On

2017-03-31