Mutagenetix > Incidental Mutations

Incidental Mutation 'R0542:Snx17'

49977

Institutional Source

Beutler Lab

Gene Symbol

Snx17

Ensembl Gene

ENSMUSG00000029146

Gene Name

sorting nexin 17

Synonyms

D5Ertd260e, b2b1625.1Clo, 5830447M19Rik

MMRRC Submission

038734-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.870) question?

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31193227-31199143 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 31196551 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031029] [ENSMUST00000031562] [ENSMUST00000077693] [ENSMUST00000114590] [ENSMUST00000114603] [ENSMUST00000166769] [ENSMUST00000200730] [ENSMUST00000201154] [ENSMUST00000201231] [ENSMUST00000201535] [ENSMUST00000201535] [ENSMUST00000201679] [ENSMUST00000201968] [ENSMUST00000202124] [ENSMUST00000202758] [ENSMUST00000202929]

Predicted Effect

probably null
Transcript: ENSMUST00000031029

SMART Domains

Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	105	3.42e-24	SMART
B41	113	274	4.05e-2	SMART
low complexity region	324	342	N/A	INTRINSIC
low complexity region	428	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031562

SMART Domains

Protein: ENSMUSP00000031562
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC
low complexity region	100	117	N/A	INTRINSIC
low complexity region	121	144	N/A	INTRINSIC
ZnF_C2H2	148	170	1.33e-1	SMART
ZnF_C2H2	176	198	2.86e-1	SMART
ZnF_C2H2	204	226	1.06e-4	SMART
low complexity region	227	238	N/A	INTRINSIC
low complexity region	340	354	N/A	INTRINSIC
ZnF_C2H2	358	380	1.03e-2	SMART
ZnF_C2H2	386	408	5.42e-2	SMART
ZnF_C2H2	414	436	2.91e-2	SMART
ZnF_C2H2	442	464	1.38e-3	SMART
ZnF_C2H2	470	492	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000077693

SMART Domains

Protein: ENSMUSP00000076875
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
coiled coil region	29	60	N/A	INTRINSIC
coiled coil region	93	122	N/A	INTRINSIC
Pfam:IF-2B	219	510	3.4e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114590

SMART Domains

Protein: ENSMUSP00000110238
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	37	57	N/A	INTRINSIC
low complexity region	102	119	N/A	INTRINSIC
low complexity region	123	146	N/A	INTRINSIC
ZnF_C2H2	150	172	1.33e-1	SMART
ZnF_C2H2	178	200	2.86e-1	SMART
ZnF_C2H2	206	228	1.06e-4	SMART
low complexity region	229	240	N/A	INTRINSIC
low complexity region	342	356	N/A	INTRINSIC
ZnF_C2H2	360	382	1.03e-2	SMART
ZnF_C2H2	388	410	5.42e-2	SMART
ZnF_C2H2	416	438	2.91e-2	SMART
ZnF_C2H2	444	466	1.38e-3	SMART
ZnF_C2H2	472	494	5.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114603

SMART Domains

Protein: ENSMUSP00000110250
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC
coiled coil region	113	142	N/A	INTRINSIC
Pfam:IF-2B	239	530	3.8e-97	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000132471

SMART Domains

Protein: ENSMUSP00000116961
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	23	3e-7	BLAST
PDB:3LUI\|C	1	23	3e-8	PDB
low complexity region	24	35	N/A	INTRINSIC
Blast:B41	36	169	5e-92	BLAST
PDB:4GXB\|A	36	169	4e-90	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000147145

SMART Domains

Protein: ENSMUSP00000135387
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	87	2.3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166769

SMART Domains

Protein: ENSMUSP00000130880
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC
coiled coil region	113	142	N/A	INTRINSIC
Pfam:IF-2B	239	530	3.8e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200724

Predicted Effect

probably benign
Transcript: ENSMUST00000200730

SMART Domains

Protein: ENSMUSP00000144504
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
PX	1	87	2.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201119

Predicted Effect

probably benign
Transcript: ENSMUST00000201154

SMART Domains

Protein: ENSMUSP00000143802
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
low complexity region	11	26	N/A	INTRINSIC
coiled coil region	49	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201231

SMART Domains

Protein: ENSMUSP00000144172
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	35	55	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201343

Predicted Effect

probably null
Transcript: ENSMUST00000201535

SMART Domains

Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	23	3e-7	BLAST
PDB:3LUI\|C	1	23	3e-8	PDB
low complexity region	24	35	N/A	INTRINSIC
Blast:B41	36	169	5e-92	BLAST
PDB:4GXB\|A	36	169	4e-90	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000201535

SMART Domains

Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	23	3e-7	BLAST
PDB:3LUI\|C	1	23	3e-8	PDB
low complexity region	24	35	N/A	INTRINSIC
Blast:B41	36	169	5e-92	BLAST
PDB:4GXB\|A	36	169	4e-90	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000201679

SMART Domains

Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Pfam:PX	6	67	2.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201835

Predicted Effect

probably benign
Transcript: ENSMUST00000201968

SMART Domains

Protein: ENSMUSP00000144517
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	80	92	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202032

Predicted Effect

probably benign
Transcript: ENSMUST00000202124

SMART Domains

Protein: ENSMUSP00000144168
Gene: ENSMUSG00000029146

Domain	Start	End	E-Value	Type
Blast:PX	1	31	6e-8	BLAST
PDB:3LUI\|C	1	31	4e-9	PDB
low complexity region	41	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202743

Predicted Effect

probably benign
Transcript: ENSMUST00000202758

SMART Domains

Protein: ENSMUSP00000144361
Gene: ENSMUSG00000029145

Domain	Start	End	E-Value	Type
coiled coil region	71	102	N/A	INTRINSIC
coiled coil region	135	164	N/A	INTRINSIC
Pfam:IF-2B	261	552	2.3e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202929

SMART Domains

Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059

Domain	Start	End	E-Value	Type
low complexity region	50	67	N/A	INTRINSIC

Meta Mutation Damage Score

0.9594

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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 does not contain a coiled coil region, like some family members, but contains a B41 domain. This protein interacts with the cytoplasmic domain of P-selectin, and may function in the intracellular trafficking of P-selectin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for an ENU_induced mutation exhibit double outlet right ventricle (DORV)/overriding aorta (Ao) and atrioventricular septal defect (AVSD). Noncardiac phenotypes include anopthalmia and duplex kidneys. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	A	G	2: 148,782,172	N22S	probably benign	Het
Abhd12b	C	A	12: 70,163,495	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,859,218	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,573,318	S714P	probably damaging	Het
Agap3	G	A	5: 24,500,186	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 122,895,770	R448G	probably damaging	Het
Anks1b	T	C	10: 90,073,967		probably benign	Het
Caml	A	T	13: 55,623,161	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,243,683	T124I	probably benign	Het
Clca2	A	G	3: 145,075,810		probably benign	Het
Col12a1	A	G	9: 79,605,328		probably null	Het
Crispld1	T	C	1: 17,746,768	V183A	possibly damaging	Het
Dhx40	C	T	11: 86,804,256		probably null	Het
Dmxl1	T	A	18: 49,893,694	D1956E	probably benign	Het
Dsc2	A	G	18: 20,051,226	V35A	probably damaging	Het
Dusp27	A	T	1: 166,101,284	M253K	possibly damaging	Het
Elovl2	A	G	13: 41,191,976		probably benign	Het
Gapvd1	T	C	2: 34,725,036		probably benign	Het
Gnaq	T	A	19: 16,219,618	I56N	probably damaging	Het
Gpr139	T	C	7: 119,145,083	D93G	probably benign	Het
Hars	C	T	18: 36,771,181	R215H	probably benign	Het
Helz2	C	A	2: 181,232,089	W2204L	probably damaging	Het
Itgb6	A	T	2: 60,605,136	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,187,572	T5I	probably benign	Het
Krt82	T	C	15: 101,545,600		probably benign	Het
Lgals9	T	A	11: 78,969,720	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,428,654	I4564T	probably benign	Het
Mblac1	A	G	5: 138,194,536	T47A	possibly damaging	Het
Med12l	G	A	3: 59,042,401	D182N	probably damaging	Het
Megf9	A	G	4: 70,435,348	I407T	probably benign	Het
Mtmr6	A	T	14: 60,292,129		probably null	Het
Mtor	A	G	4: 148,540,450	T2173A	probably benign	Het
Mzt1	A	T	14: 99,040,502		probably benign	Het
Narf	T	C	11: 121,252,864	L444P	probably damaging	Het
Nsd1	A	T	13: 55,260,458	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,542,581	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,214,628	D159G	possibly damaging	Het
Olfr168	A	T	16: 19,529,982	*313R	probably null	Het
Pcdh1	C	T	18: 38,189,922	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,423,834	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769	N280S	probably damaging	Het
Per2	A	T	1: 91,438,332		probably null	Het
Pfkp	G	T	13: 6,621,992	C122*	probably null	Het
Plxna4	G	A	6: 32,192,297	R1322W	probably damaging	Het
Ppox	A	G	1: 171,279,244	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 54,877,131	P58L	probably benign	Het
Prr23a2	A	C	9: 98,857,033	N148T	probably benign	Het
Psd	T	C	19: 46,314,210	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,478,414	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103	V144M	probably damaging	Het
Sema6a	T	G	18: 47,248,576	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,809,285		probably null	Het
Syt14	G	T	1: 192,930,803	T563K	probably damaging	Het
Tada3	T	C	6: 113,375,214	K85E	probably damaging	Het
Tspear	T	C	10: 77,881,087	V532A	probably benign	Het
Ttc30b	A	G	2: 75,936,711	V566A	probably damaging	Het
Ttn	A	T	2: 76,893,109	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,094,178		probably benign	Het
Usp19	A	G	9: 108,494,385		probably null	Het
Vav3	G	A	3: 109,527,430	D426N	probably damaging	Het
Vezt	T	C	10: 94,007,096		probably null	Het
Vldlr	G	T	19: 27,236,255	R114L	probably benign	Het
Wdr34	A	G	2: 30,031,825	V508A	probably damaging	Het
Wwc2	C	T	8: 47,868,379	V567I	unknown	Het
Zfp423	T	C	8: 87,780,609	T911A	probably damaging	Het
Zfp719	A	G	7: 43,589,253		probably null	Het
Zkscan16	A	T	4: 58,956,597	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,828,699	N515T	possibly damaging	Het
Znfx1	A	G	2: 167,055,655	S450P	probably damaging	Het

Other mutations in Snx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Snx17	APN	5	31197335	missense	probably damaging	0.99
IGL01406:Snx17	APN	5	31195994	missense	probably damaging	1.00
IGL01955:Snx17	APN	5	31197082	unclassified	probably benign
IGL02724:Snx17	APN	5	31197046	missense	probably damaging	1.00
IGL03032:Snx17	APN	5	31196011	missense	probably benign	0.03
IGL03277:Snx17	APN	5	31195740	unclassified	probably benign
R1188:Snx17	UTSW	5	31195822	missense	probably benign	0.18
R4597:Snx17	UTSW	5	31198513	unclassified	probably benign
R4983:Snx17	UTSW	5	31195794	missense	possibly damaging	0.80
R7156:Snx17	UTSW	5	31197348	missense	probably damaging	1.00
R7583:Snx17	UTSW	5	31196533	missense	possibly damaging	0.61
R7711:Snx17	UTSW	5	31195460	missense	probably damaging	0.97
R7712:Snx17	UTSW	5	31195460	missense	probably damaging	0.97
Z1176:Snx17	UTSW	5	31196993	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACCATTGATTACCCCAGAGTTGC -3'
(R):5'- AGCCATGCTCAATGTCTGACACC -3'

Sequencing Primer
(F):5'- CAATTGTTCGCTTGCCCATTTTC -3'
(R):5'- caggaggcaaaggcagg -3'

Posted On

2013-06-12