Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01668:Snx19'

103371

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: 0.119) question?

Stock #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

30427108-30466733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30427823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 86 (T86A)

Ref Sequence

ENSEMBL: ENSMUSP00000131895 (fasta)

Gene Model

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

AlphaFold

Q6P4T1

Predicted Effect

probably benign
Transcript: ENSMUST00000164099
AA Change: T86A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: T86A

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	A	7: 29,537,430		noncoding transcript	Het
Ap3d1	A	G	10: 80,719,159	V444A	possibly damaging	Het
BC022687	T	C	12: 112,809,644	S86P	probably damaging	Het
Chd9	A	T	8: 91,026,776	H1799L	possibly damaging	Het
Cic	C	T	7: 25,291,204	P1108S	possibly damaging	Het
Cldn16	T	A	16: 26,482,546	Y201*	probably null	Het
Col6a6	C	A	9: 105,709,271	R1850S	probably damaging	Het
Cryge	A	G	1: 65,048,698	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,843,311	V180D	probably damaging	Het
Dmwd	C	T	7: 19,081,155	R577W	probably damaging	Het
Gm5884	A	G	6: 128,645,414		noncoding transcript	Het
Gm5901	C	T	7: 105,377,564	R180C	probably benign	Het
Hook2	A	T	8: 84,993,578	Y131F	possibly damaging	Het
Hsf1	T	C	15: 76,496,962		probably null	Het
Ighv1-62-3	A	G	12: 115,460,993		probably benign	Het
Ikbke	T	G	1: 131,256,938	D666A	probably benign	Het
Il1r1	C	T	1: 40,313,329	T556I	probably benign	Het
Larp4	T	C	15: 99,987,474	S69P	probably damaging	Het
Lrrc27	G	T	7: 139,227,911		probably benign	Het
March2	A	C	17: 33,703,096	W97G	probably damaging	Het
Olfr1066	A	G	2: 86,455,402	Y290H	probably damaging	Het
Olfr1257	C	A	2: 89,881,099	P91Q	probably benign	Het
Olfr1444	A	G	19: 12,861,867	I31V	probably benign	Het
Pah	T	A	10: 87,578,261	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,343,152	E447G	probably benign	Het
Prex2	T	C	1: 11,153,645	V731A	probably benign	Het
Prpsap2	A	G	11: 61,755,451	V44A	probably benign	Het
Rp1	T	C	1: 4,345,718	N1724D	probably damaging	Het
Sap130	A	G	18: 31,680,440	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,430,292	F277C	probably damaging	Het
Tbc1d32	A	T	10: 56,123,577	V833D	probably benign	Het
Washc2	A	G	6: 116,262,338	D1290G	probably 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
IGL00902:Snx19	APN	9	30428732	missense	possibly damaging	0.90
IGL01433:Snx19	APN	9	30428771	missense	possibly damaging	0.93
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
R8087:Snx19	UTSW	9	30464402	missense	probably benign
R8211:Snx19	UTSW	9	30437465	missense	probably benign
R8283:Snx19	UTSW	9	30463226	missense	possibly damaging	0.56
R9000:Snx19	UTSW	9	30464323	missense	unknown
R9383:Snx19	UTSW	9	30435900	missense	probably damaging	1.00
R9436:Snx19	UTSW	9	30463306	missense	possibly damaging	0.55
R9782:Snx19	UTSW	9	30428876	missense	probably benign	0.00
X0019:Snx19	UTSW	9	30437366	missense	probably damaging	1.00
X0024:Snx19	UTSW	9	30427721	missense	probably benign	0.04

Posted On

2014-01-21