Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01406:Snx17'

79797

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx17

Ensembl Gene

ENSMUSG00000029146

Gene Name

sorting nexin 17

Synonyms

D5Ertd260e, 5830447M19Rik, b2b1625.1Clo

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

IGL01406

Quality Score

Status

Chromosome

Chromosomal Location

31350634-31356244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31353338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 77 (Y77C)

Ref Sequence

ENSEMBL: ENSMUSP00000144643 (fasta)

Gene Model

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

AlphaFold

Q8BVL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000031029
AA Change: Y159C

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031029
Gene: ENSMUSG00000029146
AA Change: Y159C

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 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 damaging
Transcript: ENSMUST00000201535
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000144643
Gene: ENSMUSG00000029146
AA Change: Y77C

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

noncoding transcript
Transcript: ENSMUST00000200992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200983

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201119

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

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

probably benign
Transcript: ENSMUST00000200741

Predicted Effect

probably benign
Transcript: ENSMUST00000200929

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: ENSMUST00000201679

SMART Domains

Protein: ENSMUSP00000144688
Gene: ENSMUSG00000029146

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

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

noncoding transcript
Transcript: ENSMUST00000202318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202323

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202468

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

probably benign
Transcript: ENSMUST00000202929

SMART Domains

Protein: ENSMUSP00000143817
Gene: ENSMUSG00000043059

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

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

Coding Region Coverage

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 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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,180,212 (GRCm39)	Q558*	probably null	Het
Adam29	A	T	8: 56,324,874 (GRCm39)	Y527N	probably damaging	Het
Atm	T	C	9: 53,351,046 (GRCm39)	*3067W	probably null	Het
B3galt2	A	T	1: 143,522,844 (GRCm39)	I327L	possibly damaging	Het
Cadm2	C	A	16: 66,612,192 (GRCm39)		probably null	Het
Cd6	G	T	19: 10,768,501 (GRCm39)	A496E	possibly damaging	Het
Cdh16	A	T	8: 105,345,044 (GRCm39)	I415N	possibly damaging	Het
Ces1b	T	C	8: 93,798,622 (GRCm39)	N188S	probably damaging	Het
Col4a1	T	C	8: 11,268,898 (GRCm39)	D980G	probably damaging	Het
Dmgdh	G	A	13: 93,823,539 (GRCm39)		probably benign	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Fbln2	T	C	6: 91,243,374 (GRCm39)	S917P	probably damaging	Het
Fmnl1	T	C	11: 103,085,516 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gm3115	T	A	14: 4,087,137 (GRCm38)		probably benign	Het
Hnf1b	C	T	11: 83,779,950 (GRCm39)	P402S	probably benign	Het
Il7r	T	A	15: 9,508,300 (GRCm39)	R341*	probably null	Het
Krt75	T	C	15: 101,476,460 (GRCm39)	Y435C	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Musk	T	C	4: 58,367,539 (GRCm39)	Y578H	probably damaging	Het
Naa20	A	G	2: 145,757,726 (GRCm39)		probably null	Het
Ncoa7	T	C	10: 30,566,836 (GRCm39)	D565G	probably damaging	Het
Pgap1	C	T	1: 54,572,573 (GRCm39)		probably null	Het
Plekha5	G	A	6: 140,518,676 (GRCm39)	R172H	probably damaging	Het
Spdye4b	C	T	5: 143,188,166 (GRCm39)	P220S	probably benign	Het
Tbx18	T	A	9: 87,595,596 (GRCm39)	D326V	probably damaging	Het
Tlr12	A	T	4: 128,510,132 (GRCm39)	L706*	probably null	Het
Tnfrsf21	T	A	17: 43,348,837 (GRCm39)	C150S	probably damaging	Het
Togaram1	A	G	12: 65,042,352 (GRCm39)	D1187G	possibly damaging	Het
Trav5-1	T	C	14: 52,860,444 (GRCm39)	L83P	probably damaging	Het
Vmn2r75	T	A	7: 85,812,500 (GRCm39)		probably benign	Het

Other mutations in Snx17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Snx17	APN	5	31,354,679 (GRCm39)	missense	probably damaging	0.99
IGL01955:Snx17	APN	5	31,354,426 (GRCm39)	unclassified	probably benign
IGL02724:Snx17	APN	5	31,354,390 (GRCm39)	missense	probably damaging	1.00
IGL03032:Snx17	APN	5	31,353,355 (GRCm39)	missense	probably benign	0.03
IGL03277:Snx17	APN	5	31,353,084 (GRCm39)	unclassified	probably benign
R0542:Snx17	UTSW	5	31,353,895 (GRCm39)	critical splice donor site	probably null
R1188:Snx17	UTSW	5	31,353,166 (GRCm39)	missense	probably benign	0.18
R4597:Snx17	UTSW	5	31,355,857 (GRCm39)	unclassified	probably benign
R4983:Snx17	UTSW	5	31,353,138 (GRCm39)	missense	possibly damaging	0.80
R7156:Snx17	UTSW	5	31,354,692 (GRCm39)	missense	probably damaging	1.00
R7583:Snx17	UTSW	5	31,353,877 (GRCm39)	missense	possibly damaging	0.61
R7711:Snx17	UTSW	5	31,352,804 (GRCm39)	missense	probably damaging	0.97
R7712:Snx17	UTSW	5	31,352,804 (GRCm39)	missense	probably damaging	0.97
R8114:Snx17	UTSW	5	31,355,046 (GRCm39)	missense	probably benign	0.00
R8893:Snx17	UTSW	5	31,353,887 (GRCm39)	missense	probably damaging	1.00
R9120:Snx17	UTSW	5	31,355,026 (GRCm39)	missense	probably damaging	1.00
R9527:Snx17	UTSW	5	31,353,826 (GRCm39)	missense	probably damaging	1.00
R9562:Snx17	UTSW	5	31,355,088 (GRCm39)	missense	probably damaging	1.00
R9565:Snx17	UTSW	5	31,355,088 (GRCm39)	missense	probably damaging	1.00
Z1176:Snx17	UTSW	5	31,354,337 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05