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

Essential gene?

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

Stock #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

30338404-30378029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30339119 bp (GRCm39)

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
Ap3d1	A	G	10: 80,554,993 (GRCm39)	V444A	possibly damaging	Het
Chd9	A	T	8: 91,753,404 (GRCm39)	H1799L	possibly damaging	Het
Cic	C	T	7: 24,990,629 (GRCm39)	P1108S	possibly damaging	Het
Clba1	T	C	12: 112,773,264 (GRCm39)	S86P	probably damaging	Het
Cldn16	T	A	16: 26,301,296 (GRCm39)	Y201*	probably null	Het
Col6a6	C	A	9: 105,586,470 (GRCm39)	R1850S	probably damaging	Het
Cryge	A	G	1: 65,087,857 (GRCm39)	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,397,048 (GRCm39)	V180D	probably damaging	Het
Dmwd	C	T	7: 18,815,080 (GRCm39)	R577W	probably damaging	Het
Gm5884	A	G	6: 128,622,377 (GRCm39)		noncoding transcript	Het
Gm5901	C	T	7: 105,026,771 (GRCm39)	R180C	probably benign	Het
Hook2	A	T	8: 85,720,207 (GRCm39)	Y131F	possibly damaging	Het
Hsf1	T	C	15: 76,381,162 (GRCm39)		probably null	Het
Ighv1-62-3	A	G	12: 115,424,613 (GRCm39)		probably benign	Het
Ikbke	T	G	1: 131,184,675 (GRCm39)	D666A	probably benign	Het
Il1r1	C	T	1: 40,352,489 (GRCm39)	T556I	probably benign	Het
Larp4	T	C	15: 99,885,355 (GRCm39)	S69P	probably damaging	Het
Lrrc27	G	T	7: 138,807,827 (GRCm39)		probably benign	Het
Marchf2	A	C	17: 33,922,070 (GRCm39)	W97G	probably damaging	Het
Or4c10b	C	A	2: 89,711,443 (GRCm39)	P91Q	probably benign	Het
Or5b21	A	G	19: 12,839,231 (GRCm39)	I31V	probably benign	Het
Or8k28	A	G	2: 86,285,746 (GRCm39)	Y290H	probably damaging	Het
Pah	T	A	10: 87,414,123 (GRCm39)	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,476,205 (GRCm39)	E447G	probably benign	Het
Prex2	T	C	1: 11,223,869 (GRCm39)	V731A	probably benign	Het
Prpsap2	A	G	11: 61,646,277 (GRCm39)	V44A	probably benign	Het
Rp1	T	C	1: 4,415,941 (GRCm39)	N1724D	probably damaging	Het
Sap130	A	G	18: 31,813,493 (GRCm39)	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,272,212 (GRCm39)	F277C	probably damaging	Het
Tbc1d32	A	T	10: 55,999,673 (GRCm39)	V833D	probably benign	Het
Washc2	A	G	6: 116,239,299 (GRCm39)	D1290G	probably damaging	Het
Wdr87-ps	G	A	7: 29,236,855 (GRCm39)		noncoding transcript	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
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
IGL02723: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

2014-01-21