Mutagenetix > Incidental Mutation

Incidental Mutation 'R7772:Snx19'

598647

Institutional Source

Beutler Lab

Gene Symbol

Snx19

Ensembl Gene

ENSMUSG00000031993

Gene Name

sorting nexin 19

Synonyms

3526401K03Rik

MMRRC Submission

045828-MU

Accession Numbers

Essential gene?

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

Stock #

R7772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30338404-30378029 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30340221 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 453 (I453T)

Ref Sequence

ENSEMBL: ENSMUSP00000131895 (fasta)

Gene Model

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

AlphaFold

Q6P4T1

Predicted Effect

probably damaging
Transcript: ENSMUST00000164099
AA Change: I453T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131895
Gene: ENSMUSG00000031993
AA Change: I453T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (68/69)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,839,784 (GRCm39)		probably null	Het
Adora3	T	C	3: 105,815,039 (GRCm39)	V263A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arfgef1	A	G	1: 10,227,235 (GRCm39)	V1368A	possibly damaging	Het
Arid4a	A	T	12: 71,108,363 (GRCm39)	N56I	possibly damaging	Het
Art3	A	T	5: 92,551,472 (GRCm39)	Y277F	probably damaging	Het
Atp2a1	A	T	7: 126,047,707 (GRCm39)		probably null	Het
Banf1	T	C	19: 5,415,150 (GRCm39)	K54E	possibly damaging	Het
Bckdk	A	G	7: 127,505,073 (GRCm39)	Y151C	probably damaging	Het
C1qtnf3	C	A	15: 10,958,130 (GRCm39)	P58T	possibly damaging	Het
Cadps2	T	C	6: 23,390,445 (GRCm39)	R744G	probably benign	Het
Cdc25b	A	G	2: 131,031,029 (GRCm39)	D118G	probably damaging	Het
Cnot9	G	A	1: 74,566,151 (GRCm39)	V181I	probably damaging	Het
Cobl	C	T	11: 12,204,488 (GRCm39)	G738D	probably benign	Het
Col18a1	T	A	10: 76,904,220 (GRCm39)		probably null	Het
Crnkl1	A	G	2: 145,772,564 (GRCm39)	V171A	probably benign	Het
Dhx57	C	T	17: 80,580,507 (GRCm39)	D482N	possibly damaging	Het
Dpysl2	A	T	14: 67,066,425 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,582,758 (GRCm39)	A52S	probably benign	Het
Dst	T	C	1: 34,220,469 (GRCm39)	V2091A	possibly damaging	Het
Evpl	T	C	11: 116,112,261 (GRCm39)	T1810A	probably benign	Het
Fbxo2	T	A	4: 148,248,783 (GRCm39)	W92R	probably damaging	Het
Gas2l2	T	A	11: 83,320,103 (GRCm39)	D51V	possibly damaging	Het
Gm11232	A	T	4: 71,674,818 (GRCm39)	V228E	possibly damaging	Het
Gm14305	C	T	2: 176,412,764 (GRCm39)	Q219*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gpr39	G	T	1: 125,605,334 (GRCm39)	M87I	possibly damaging	Het
Heatr1	T	C	13: 12,432,522 (GRCm39)	M1089T	probably benign	Het
Ifi206	A	T	1: 173,308,640 (GRCm39)	M452K		Het
Ints8	A	T	4: 11,227,190 (GRCm39)	I561N	probably damaging	Het
Itgb2	A	T	10: 77,396,946 (GRCm39)	K660N	probably benign	Het
Jun	A	C	4: 94,939,081 (GRCm39)	V143G	probably benign	Het
Kalrn	A	G	16: 33,851,952 (GRCm39)	M2076T	probably benign	Het
Krt10	G	T	11: 99,279,913 (GRCm39)	S82R	unknown	Het
Lipm	T	A	19: 34,095,291 (GRCm39)	H295Q	probably damaging	Het
Mybpc2	A	C	7: 44,165,348 (GRCm39)		probably null	Het
Nedd4	T	C	9: 72,584,608 (GRCm39)	V103A	possibly damaging	Het
Nol10	T	C	12: 17,398,586 (GRCm39)	I11T	probably damaging	Het
Nup210l	A	G	3: 90,067,233 (GRCm39)	S758G	probably damaging	Het
Or13d1	T	A	4: 52,970,713 (GRCm39)	C31S	probably damaging	Het
Or52r1c	T	G	7: 102,735,388 (GRCm39)	I216S	probably benign	Het
Or8d4	T	C	9: 40,038,661 (GRCm39)	I199V	probably benign	Het
Osbpl9	T	C	4: 108,923,384 (GRCm39)	H425R	probably damaging	Het
Parp1	G	T	1: 180,416,963 (GRCm39)	R582S	possibly damaging	Het
Piwil1	A	T	5: 128,816,527 (GRCm39)	R36S	probably benign	Het
Pjvk	T	C	2: 76,487,877 (GRCm39)		probably null	Het
Plekha6	G	T	1: 133,097,760 (GRCm39)	E31D	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Psmc6	T	A	14: 45,581,107 (GRCm39)	I301N	probably damaging	Het
Rfpl4	C	A	7: 5,118,543 (GRCm39)	S9I	probably benign	Het
Rnf14	G	T	18: 38,442,629 (GRCm39)	C310F	probably damaging	Het
Rnf17	T	A	14: 56,715,144 (GRCm39)	F845L	probably benign	Het
Robo2	T	C	16: 73,758,777 (GRCm39)	I665V	probably benign	Het
Rtl1	T	A	12: 109,559,619 (GRCm39)	H740L	probably damaging	Het
Ryr2	A	G	13: 11,765,897 (GRCm39)	S1280P	probably benign	Het
Slc12a8	G	A	16: 33,371,335 (GRCm39)	R126H	probably damaging	Het
Slc9a1	T	C	4: 133,139,276 (GRCm39)	F165L	probably damaging	Het
Spag17	T	C	3: 99,987,434 (GRCm39)	Y1575H	probably damaging	Het
Spef2	T	C	15: 9,704,567 (GRCm39)	I415M	probably damaging	Het
Ssx2ip	T	G	3: 146,138,885 (GRCm39)	I459S	probably damaging	Het
Stfa1	A	G	16: 36,097,363 (GRCm39)		probably null	Het
Tmem156	A	T	5: 65,237,517 (GRCm39)	S48T	probably damaging	Het
Tmx3	T	A	18: 90,545,918 (GRCm39)		probably null	Het
Unc93a	A	T	17: 13,328,639 (GRCm39)	F405I	possibly damaging	Het
Vmn1r209	T	A	13: 22,990,664 (GRCm39)	I9F	possibly damaging	Het
Vmn2r93	A	G	17: 18,533,482 (GRCm39)	D462G	probably damaging	Het
Wdr90	T	A	17: 26,080,465 (GRCm39)		probably benign	Het
Zfp551	T	C	7: 12,152,535 (GRCm39)	D66G	probably damaging	Het
Znrf4	A	C	17: 56,819,247 (GRCm39)	V20G	possibly damaging	Het
Zscan4d	T	C	7: 10,896,770 (GRCm39)	E200G	probably benign	Het
Zup1	A	T	10: 33,797,698 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCAACTTCCTTTCTGACAGG -3'
(R):5'- AGGTTCTGGATGACAACCG -3'

Sequencing Primer
(F):5'- CTGACAGGATTCAAGATGCTCTG -3'
(R):5'- ACTGCTCAGGGACTCGAAG -3'

Posted On

2019-11-26