Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Snx27'

50677

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx27

Ensembl Gene

ENSMUSG00000028136

Gene Name

sorting nexin family member 27

Synonyms

ESTM47, 5730552M22Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

94497544-94582716 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 94528980 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029783] [ENSMUST00000107283] [ENSMUST00000198426] [ENSMUST00000199462] [ENSMUST00000200642]

Predicted Effect

probably benign
Transcript: ENSMUST00000029783

SMART Domains

Protein: ENSMUSP00000029783
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDZ	49	134	3.77e-19	SMART
PX	154	263	7.5e-21	SMART
Pfam:RA	271	360	1.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107283

SMART Domains

Protein: ENSMUSP00000102904
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDZ	49	134	3.77e-19	SMART
PX	154	263	7.5e-21	SMART
Pfam:RA	271	360	1.5e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196675

Predicted Effect

probably benign
Transcript: ENSMUST00000198426

SMART Domains

Protein: ENSMUSP00000143525
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
PX	1	93	5.11e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198902

Predicted Effect

probably benign
Transcript: ENSMUST00000199462

SMART Domains

Protein: ENSMUSP00000143378
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
low complexity region	18	38	N/A	INTRINSIC
PDB:3QE1\|A	39	58	9e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000200642

SMART Domains

Protein: ENSMUSP00000143066
Gene: ENSMUSG00000028136

Domain	Start	End	E-Value	Type
PDB:3QGL\|E	12	42	3e-12	PDB
PX	63	172	7.5e-21	SMART
Pfam:RA	180	269	5.3e-14	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, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and postnatal lethality, decreased organ size, slow postnatal weight gain, and decreased endocytosis of Grin2c. [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
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Snx27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00534:Snx27	APN	3	94561972	missense	probably damaging	1.00
IGL01598:Snx27	APN	3	94561843	missense	probably damaging	1.00
IGL02276:Snx27	APN	3	94531379	missense	probably damaging	1.00
IGL02558:Snx27	APN	3	94502881	missense	probably damaging	0.99
IGL02748:Snx27	APN	3	94503565	missense	probably benign	0.04
IGL02817:Snx27	APN	3	94503463	missense	probably damaging	1.00
IGL02965:Snx27	APN	3	94582426	missense	probably damaging	0.99
R0733:Snx27	UTSW	3	94562013	missense	probably benign	0.03
R1241:Snx27	UTSW	3	94520233	missense	probably benign	0.18
R1882:Snx27	UTSW	3	94519109	missense	probably damaging	0.97
R2517:Snx27	UTSW	3	94531234	missense	probably damaging	1.00
R3850:Snx27	UTSW	3	94520235	missense	probably benign	0.00
R3964:Snx27	UTSW	3	94531306	missense	probably damaging	1.00
R4035:Snx27	UTSW	3	94524244	missense	probably damaging	0.99
R4172:Snx27	UTSW	3	94503487	missense	probably benign	0.00
R4424:Snx27	UTSW	3	94562023	missense	probably benign	0.03
R4425:Snx27	UTSW	3	94562023	missense	probably benign	0.03
R4548:Snx27	UTSW	3	94526439	intron	probably benign
R4820:Snx27	UTSW	3	94520211	missense	probably damaging	1.00
R5114:Snx27	UTSW	3	94524244	missense	probably damaging	1.00
R5672:Snx27	UTSW	3	94502850	splice site	probably null
R5877:Snx27	UTSW	3	94502963	missense	probably damaging	1.00
R7138:Snx27	UTSW	3	94528940	missense	probably benign	0.04
R7284:Snx27	UTSW	3	94524191	missense	probably damaging	0.97
R7403:Snx27	UTSW	3	94528926	missense	probably damaging	1.00
R7593:Snx27	UTSW	3	94502965	missense	possibly damaging	0.83
R7827:Snx27	UTSW	3	94519059	missense	probably benign	0.11
X0057:Snx27	UTSW	3	94524274	missense	possibly damaging	0.84

Posted On

2013-06-21