Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00902:Snx19'

28124

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx19

Ensembl Gene

ENSMUSG00000031993

Gene Name

sorting nexin 19

Synonyms

3526401K03Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

IGL00902

Quality Score

Status

Chromosome

Chromosomal Location

30427108-30466733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30428732 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 389 (I389F)

Ref Sequence

ENSEMBL: ENSMUSP00000131895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164099]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164099
AA Change: I389F

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: I389F

Domain	Start	End	E-Value	Type
transmembrane domain	29	46	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
Pfam:PXA	96	269	2.9e-43	PFAM
low complexity region	324	335	N/A	INTRINSIC
low complexity region	371	385	N/A	INTRINSIC
low complexity region	504	528	N/A	INTRINSIC
PX	533	664	1.83e-24	SMART
Pfam:Nexin_C	843	951	1.9e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217174

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 37,041,345	G1001D	probably damaging	Het
Adamts7	T	G	9: 90,188,794		probably null	Het
Akap11	A	G	14: 78,495,838	S1876P	probably benign	Het
Capn10	A	G	1: 92,942,559	I256V	probably benign	Het
Catsperg2	T	A	7: 29,701,143	H262L	possibly damaging	Het
Col22a1	C	A	15: 71,964,659	G509V	probably damaging	Het
Dab2ip	T	C	2: 35,717,112	F523S	probably damaging	Het
Dbnl	G	T	11: 5,798,105	A313S	probably benign	Het
Ddo	T	C	10: 40,647,554	V180A	probably damaging	Het
Enox1	A	G	14: 77,582,404	M200V	possibly damaging	Het
Fabp6	G	A	11: 43,598,716	R33C	probably damaging	Het
Gm9104	T	C	17: 45,466,014		probably benign	Het
Gspt1	C	T	16: 11,232,579	V303I	probably damaging	Het
Igf2r	C	T	17: 12,700,358	C1469Y	probably damaging	Het
Igflr1	T	C	7: 30,567,275	S183P	possibly damaging	Het
Itga6	T	C	2: 71,849,394	V1001A	probably benign	Het
Itih1	G	A	14: 30,932,482		probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lrp5	T	C	19: 3,600,774	N1220S	probably damaging	Het
March6	A	G	15: 31,484,978	Y434H	probably damaging	Het
Mbd1	A	G	18: 74,275,239	Y211C	possibly damaging	Het
Mpeg1	C	A	19: 12,461,769	A197D	probably damaging	Het
Mroh2b	T	A	15: 4,915,222	L435Q	probably damaging	Het
Mss51	A	C	14: 20,486,167	M160R	probably damaging	Het
Ndufs7	T	G	10: 80,256,005	Y190*	probably null	Het
Olfr1015	T	C	2: 85,786,117	M202T	probably benign	Het
Olfr768	T	A	10: 129,093,396	I193L	probably benign	Het
Pcdh17	A	G	14: 84,446,849	E252G	probably damaging	Het
Ric1	T	C	19: 29,567,231	V151A	probably benign	Het
Sgo2a	A	G	1: 58,016,099	T481A	probably benign	Het
Slc5a8	A	G	10: 88,919,461	T477A	probably benign	Het
Smg5	G	A	3: 88,353,085	V661I	probably benign	Het
Spem1	A	T	11: 69,821,817	I64N	probably damaging	Het
Ssfa2	G	A	2: 79,660,478	R980Q	probably damaging	Het
Thada	A	T	17: 84,447,976	M262K	probably damaging	Het
Uox	A	G	3: 146,610,406	D32G	possibly damaging	Het
Usp42	A	T	5: 143,719,874		probably benign	Het
Usp43	G	A	11: 67,891,419	P391L	probably benign	Het
Vmn2r56	T	C	7: 12,715,499	S271G	probably benign	Het
Wdr64	T	A	1: 175,728,825	C213S	probably damaging	Het
Zfp26	A	T	9: 20,439,548	S194T	possibly damaging	Het

Other mutations in Snx19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Snx19	APN	9	30429084	missense	possibly damaging	0.92
IGL00498:Snx19	APN	9	30428937	missense	possibly damaging	0.92
IGL00718:Snx19	APN	9	30432326	missense	probably damaging	1.00
IGL01433:Snx19	APN	9	30428771	missense	possibly damaging	0.93
IGL01668:Snx19	APN	9	30427823	missense	probably benign
IGL01732:Snx19	APN	9	30462353	missense	probably damaging	1.00
IGL01767:Snx19	APN	9	30463264	missense	possibly damaging	0.95
IGL02638:Snx19	APN	9	30432364	missense	possibly damaging	0.52
IGL02718:Snx19	APN	9	30432260	missense	possibly damaging	0.72
IGL02719:Snx19	APN	9	30432260	missense	possibly damaging	0.72
IGL02723:Snx19	APN	9	30432260	missense	possibly damaging	0.72
IGL02724:Snx19	APN	9	30432260	missense	possibly damaging	0.72
IGL02725:Snx19	APN	9	30432260	missense	possibly damaging	0.72
IGL02892:Snx19	APN	9	30428364	missense	probably damaging	1.00
IGL03061:Snx19	APN	9	30433632	missense	probably damaging	0.99
IGL03402:Snx19	APN	9	30440134	missense	possibly damaging	0.89
R0125:Snx19	UTSW	9	30440219	missense	probably damaging	1.00
R0133:Snx19	UTSW	9	30428616	missense	possibly damaging	0.94
R0196:Snx19	UTSW	9	30433387	missense	probably damaging	1.00
R0423:Snx19	UTSW	9	30435837	missense	probably damaging	1.00
R0635:Snx19	UTSW	9	30428810	missense	probably damaging	1.00
R0635:Snx19	UTSW	9	30428811	missense	probably damaging	1.00
R1068:Snx19	UTSW	9	30429018	missense	probably damaging	0.99
R1570:Snx19	UTSW	9	30428343	missense	probably damaging	1.00
R1727:Snx19	UTSW	9	30433366	missense	probably damaging	1.00
R1895:Snx19	UTSW	9	30432324	missense	probably damaging	1.00
R1907:Snx19	UTSW	9	30433576	missense	probably damaging	0.99
R1946:Snx19	UTSW	9	30432324	missense	probably damaging	1.00
R1989:Snx19	UTSW	9	30428108	missense	possibly damaging	0.93
R2029:Snx19	UTSW	9	30429000	missense	probably benign	0.01
R2914:Snx19	UTSW	9	30433532	unclassified	probably benign
R3880:Snx19	UTSW	9	30462392	missense	probably damaging	1.00
R4223:Snx19	UTSW	9	30428448	missense	possibly damaging	0.95
R4415:Snx19	UTSW	9	30437483	missense	probably damaging	0.99
R4438:Snx19	UTSW	9	30428599	missense	probably benign	0.01
R4484:Snx19	UTSW	9	30427896	missense	probably benign	0.01
R4585:Snx19	UTSW	9	30440195	missense	probably damaging	1.00
R4765:Snx19	UTSW	9	30440157	missense	probably damaging	1.00
R4771:Snx19	UTSW	9	30433638	missense	probably damaging	1.00
R4922:Snx19	UTSW	9	30437467	missense	probably benign	0.25
R5096:Snx19	UTSW	9	30428786	missense	probably benign	0.40
R5464:Snx19	UTSW	9	30427973	missense	possibly damaging	0.54
R6469:Snx19	UTSW	9	30427743	missense	possibly damaging	0.50
R6886:Snx19	UTSW	9	30428935	missense	probably damaging	1.00
R6988:Snx19	UTSW	9	30428935	missense	probably damaging	1.00
R7131:Snx19	UTSW	9	30427893	missense	probably damaging	1.00
R7268:Snx19	UTSW	9	30440177	missense	probably damaging	1.00
R7772:Snx19	UTSW	9	30428925	missense	probably damaging	0.99
X0019:Snx19	UTSW	9	30437366	missense	probably damaging	1.00
X0024:Snx19	UTSW	9	30427721	missense	probably benign	0.04

Posted On

2013-04-17