Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02723:Snx19'

305047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snx19

Ensembl Gene

ENSMUSG00000031993

Gene Name

sorting nexin 19

Synonyms

3526401K03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL02723

Quality Score

Status

Chromosome

Chromosomal Location

30338404-30378029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30343556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 572 (N572S)

Ref Sequence

ENSEMBL: ENSMUSP00000131895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164099] [ENSMUST00000216545]

AlphaFold

Q6P4T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164099
AA Change: N572S

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: N572S

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

probably benign
Transcript: ENSMUST00000216545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216552

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Capn9	A	T	8: 125,335,922 (GRCm39)		probably benign	Het
Cchcr1	A	C	17: 35,841,699 (GRCm39)	K761Q	probably benign	Het
Cfap20dc	T	C	14: 8,516,507 (GRCm38)	N347S	probably benign	Het
Csk	G	T	9: 57,538,672 (GRCm39)		probably benign	Het
Cyp2j7	T	C	4: 96,118,366 (GRCm39)	K76E	probably benign	Het
Dpep1	G	A	8: 123,920,888 (GRCm39)	A23T	possibly damaging	Het
Dpp8	T	A	9: 64,949,549 (GRCm39)	M98K	possibly damaging	Het
Dspp	C	A	5: 104,323,041 (GRCm39)	N61K	probably benign	Het
Eno2	T	C	6: 124,738,626 (GRCm39)	Y364C	probably damaging	Het
Gfra1	A	G	19: 58,441,683 (GRCm39)	S83P	probably benign	Het
Gramd1b	T	C	9: 40,218,127 (GRCm39)	E563G	probably damaging	Het
Kcns2	G	T	15: 34,838,961 (GRCm39)	W108L	probably damaging	Het
Mroh4	T	C	15: 74,480,086 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,015,446 (GRCm39)	S1009T	probably benign	Het
Or2y11	A	G	11: 49,443,506 (GRCm39)	R311G	probably benign	Het
Or5b119	A	G	19: 13,456,699 (GRCm39)	Y288H	probably damaging	Het
Or7g32	T	C	9: 19,388,805 (GRCm39)	H244R	probably damaging	Het
Or8b41	A	G	9: 38,054,707 (GRCm39)	K92R	probably benign	Het
Plcb2	G	A	2: 118,547,500 (GRCm39)		probably benign	Het
Rpl13a-ps1	T	A	19: 50,019,111 (GRCm39)	I22F	possibly damaging	Het
Skil	A	G	3: 31,171,673 (GRCm39)	E599G	probably damaging	Het
Spata31	T	C	13: 65,068,463 (GRCm39)	S204P	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tenm3	A	T	8: 48,729,938 (GRCm39)	V1356E	probably benign	Het
Trpc3	T	A	3: 36,704,377 (GRCm39)	I527F	probably benign	Het
Vmn2r69	A	G	7: 85,059,416 (GRCm39)	W498R	probably damaging	Het
Vwde	T	A	6: 13,205,759 (GRCm39)	I263L	probably damaging	Het
Vwf	G	T	6: 125,619,893 (GRCm39)	V1524L	possibly damaging	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Snx19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Snx19	APN	9	30,340,380 (GRCm39)	missense	possibly damaging	0.92
IGL00498:Snx19	APN	9	30,340,233 (GRCm39)	missense	possibly damaging	0.92
IGL00718:Snx19	APN	9	30,343,622 (GRCm39)	missense	probably damaging	1.00
IGL00902:Snx19	APN	9	30,340,028 (GRCm39)	missense	possibly damaging	0.90
IGL01433:Snx19	APN	9	30,340,067 (GRCm39)	missense	possibly damaging	0.93
IGL01668:Snx19	APN	9	30,339,119 (GRCm39)	missense	probably benign
IGL01732:Snx19	APN	9	30,373,649 (GRCm39)	missense	probably damaging	1.00
IGL01767:Snx19	APN	9	30,374,560 (GRCm39)	missense	possibly damaging	0.95
IGL02638:Snx19	APN	9	30,343,660 (GRCm39)	missense	possibly damaging	0.52
IGL02718:Snx19	APN	9	30,343,556 (GRCm39)	missense	possibly damaging	0.72
IGL02719:Snx19	APN	9	30,343,556 (GRCm39)	missense	possibly damaging	0.72
IGL02724:Snx19	APN	9	30,343,556 (GRCm39)	missense	possibly damaging	0.72
IGL02725:Snx19	APN	9	30,343,556 (GRCm39)	missense	possibly damaging	0.72
IGL02892:Snx19	APN	9	30,339,660 (GRCm39)	missense	probably damaging	1.00
IGL03061:Snx19	APN	9	30,344,928 (GRCm39)	missense	probably damaging	0.99
IGL03402:Snx19	APN	9	30,351,430 (GRCm39)	missense	possibly damaging	0.89
R0125:Snx19	UTSW	9	30,351,515 (GRCm39)	missense	probably damaging	1.00
R0133:Snx19	UTSW	9	30,339,912 (GRCm39)	missense	possibly damaging	0.94
R0196:Snx19	UTSW	9	30,344,683 (GRCm39)	missense	probably damaging	1.00
R0423:Snx19	UTSW	9	30,347,133 (GRCm39)	missense	probably damaging	1.00
R0635:Snx19	UTSW	9	30,340,107 (GRCm39)	missense	probably damaging	1.00
R0635:Snx19	UTSW	9	30,340,106 (GRCm39)	missense	probably damaging	1.00
R1068:Snx19	UTSW	9	30,340,314 (GRCm39)	missense	probably damaging	0.99
R1570:Snx19	UTSW	9	30,339,639 (GRCm39)	missense	probably damaging	1.00
R1727:Snx19	UTSW	9	30,344,662 (GRCm39)	missense	probably damaging	1.00
R1895:Snx19	UTSW	9	30,343,620 (GRCm39)	missense	probably damaging	1.00
R1907:Snx19	UTSW	9	30,344,872 (GRCm39)	missense	probably damaging	0.99
R1946:Snx19	UTSW	9	30,343,620 (GRCm39)	missense	probably damaging	1.00
R1989:Snx19	UTSW	9	30,339,404 (GRCm39)	missense	possibly damaging	0.93
R2029:Snx19	UTSW	9	30,340,296 (GRCm39)	missense	probably benign	0.01
R2914:Snx19	UTSW	9	30,344,828 (GRCm39)	unclassified	probably benign
R3880:Snx19	UTSW	9	30,373,688 (GRCm39)	missense	probably damaging	1.00
R4223:Snx19	UTSW	9	30,339,744 (GRCm39)	missense	possibly damaging	0.95
R4415:Snx19	UTSW	9	30,348,779 (GRCm39)	missense	probably damaging	0.99
R4438:Snx19	UTSW	9	30,339,895 (GRCm39)	missense	probably benign	0.01
R4484:Snx19	UTSW	9	30,339,192 (GRCm39)	missense	probably benign	0.01
R4585:Snx19	UTSW	9	30,351,491 (GRCm39)	missense	probably damaging	1.00
R4765:Snx19	UTSW	9	30,351,453 (GRCm39)	missense	probably damaging	1.00
R4771:Snx19	UTSW	9	30,344,934 (GRCm39)	missense	probably damaging	1.00
R4922:Snx19	UTSW	9	30,348,763 (GRCm39)	missense	probably benign	0.25
R5096:Snx19	UTSW	9	30,340,082 (GRCm39)	missense	probably benign	0.40
R5464:Snx19	UTSW	9	30,339,269 (GRCm39)	missense	possibly damaging	0.54
R6469:Snx19	UTSW	9	30,339,039 (GRCm39)	missense	possibly damaging	0.50
R6886:Snx19	UTSW	9	30,340,231 (GRCm39)	missense	probably damaging	1.00
R6988:Snx19	UTSW	9	30,340,231 (GRCm39)	missense	probably damaging	1.00
R7131:Snx19	UTSW	9	30,339,189 (GRCm39)	missense	probably damaging	1.00
R7268:Snx19	UTSW	9	30,351,473 (GRCm39)	missense	probably damaging	1.00
R7772:Snx19	UTSW	9	30,340,221 (GRCm39)	missense	probably damaging	0.99
R8087:Snx19	UTSW	9	30,375,698 (GRCm39)	missense	probably benign
R8211:Snx19	UTSW	9	30,348,761 (GRCm39)	missense	probably benign
R8283:Snx19	UTSW	9	30,374,522 (GRCm39)	missense	possibly damaging	0.56
R9000:Snx19	UTSW	9	30,375,619 (GRCm39)	missense	unknown
R9383:Snx19	UTSW	9	30,347,196 (GRCm39)	missense	probably damaging	1.00
R9436:Snx19	UTSW	9	30,374,602 (GRCm39)	missense	possibly damaging	0.55
R9782:Snx19	UTSW	9	30,340,172 (GRCm39)	missense	probably benign	0.00
X0019:Snx19	UTSW	9	30,348,662 (GRCm39)	missense	probably damaging	1.00
X0024:Snx19	UTSW	9	30,339,017 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16