Mutagenetix > Incidental Mutation

Incidental Mutation 'R1725:Slc30a8'

198102

Institutional Source

Beutler Lab

Gene Symbol

Slc30a8

Ensembl Gene

ENSMUSG00000022315

Gene Name

solute carrier family 30 (zinc transporter), member 8

Synonyms

ZnT-8, C820002P14Rik, ZnT8

MMRRC Submission

039757-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1725 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52158949-52199194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52197000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 304 (I304F)

Ref Sequence

ENSEMBL: ENSMUSP00000035257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037240]

AlphaFold

Q8BGG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037240
AA Change: I304F

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: I304F

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	73	274	6.7e-47	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,163 (GRCm39)	F109L	probably benign	Het
Aacs	T	C	5: 125,559,999 (GRCm39)		probably null	Het
Abcc6	C	A	7: 45,641,781 (GRCm39)	D866Y	possibly damaging	Het
Acox3	T	C	5: 35,749,516 (GRCm39)	Y214H	probably benign	Het
Acss2	A	G	2: 155,398,764 (GRCm39)	T404A	possibly damaging	Het
Adgrb3	T	A	1: 25,865,381 (GRCm39)	E154V	probably damaging	Het
Akap12	G	A	10: 4,303,942 (GRCm39)	V251M	probably damaging	Het
Ambp	A	T	4: 63,062,513 (GRCm39)	M242K	possibly damaging	Het
Angptl7	T	G	4: 148,584,469 (GRCm39)	Y93S	probably damaging	Het
Apof	A	G	10: 128,105,680 (GRCm39)		probably benign	Het
Arv1	T	C	8: 125,455,191 (GRCm39)	F135L	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cacna1s	C	T	1: 136,026,361 (GRCm39)	T1116I	probably damaging	Het
Ccdc91	A	G	6: 147,493,541 (GRCm39)	E311G	unknown	Het
Cenpf	T	C	1: 189,412,676 (GRCm39)	T196A	probably damaging	Het
Chd8	A	T	14: 52,470,030 (GRCm39)	S527T	probably benign	Het
Csmd3	A	C	15: 47,460,203 (GRCm39)	N3529K	probably damaging	Het
Csnk2a1	T	C	2: 152,099,892 (GRCm39)	V116A	probably damaging	Het
Dhx36	T	G	3: 62,414,360 (GRCm39)	M1L	probably benign	Het
Diaph3	A	G	14: 87,203,759 (GRCm39)		probably null	Het
Ephb2	G	A	4: 136,387,089 (GRCm39)	Q714*	probably null	Het
Eprs1	T	A	1: 185,139,189 (GRCm39)	L858Q	probably damaging	Het
Espl1	G	T	15: 102,221,656 (GRCm39)	V982L	probably benign	Het
Eya2	A	G	2: 165,566,605 (GRCm39)	T219A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl18	C	T	5: 142,872,458 (GRCm39)	R259H	probably damaging	Het
Gcc2	G	A	10: 58,139,937 (GRCm39)	R1629H	possibly damaging	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Krt6a	A	T	15: 101,600,992 (GRCm39)	M268K	probably damaging	Het
Loxhd1	T	A	18: 77,380,937 (GRCm39)	S85T	probably benign	Het
Loxl3	G	A	6: 83,012,574 (GRCm39)	V38I	probably benign	Het
Mill2	A	G	7: 18,573,993 (GRCm39)	D26G	probably benign	Het
Muc15	T	C	2: 110,561,591 (GRCm39)	L9S	probably damaging	Het
Nat8f4	G	A	6: 85,878,080 (GRCm39)	R148*	probably null	Het
Nav3	A	T	10: 109,659,451 (GRCm39)	V722E	probably damaging	Het
Nfkb1	C	A	3: 135,373,519 (GRCm39)	G10W	probably damaging	Het
Or10j5	C	T	1: 172,784,908 (GRCm39)	P182L	possibly damaging	Het
Or2ag1	A	T	7: 106,313,265 (GRCm39)	F208I	probably benign	Het
Or2t1	T	G	14: 14,328,977 (GRCm38)	Y289D	probably damaging	Het
Or5b120	T	C	19: 13,479,883 (GRCm39)	Y59H	probably damaging	Het
Pcdhb22	T	A	18: 37,653,241 (GRCm39)	C313S	probably benign	Het
Plin4	A	G	17: 56,413,473 (GRCm39)	L384P	probably damaging	Het
Pm20d1	T	C	1: 131,743,796 (GRCm39)	I487T	probably damaging	Het
Prex1	A	T	2: 166,443,656 (GRCm39)	D334E	probably damaging	Het
Psg28	A	T	7: 18,161,936 (GRCm39)	I189N	possibly damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rae1	A	G	2: 172,848,754 (GRCm39)	I123M	possibly damaging	Het
Sh3glb2	C	A	2: 30,240,679 (GRCm39)	E129*	probably null	Het
Simc1	T	C	13: 54,674,219 (GRCm39)	S856P	probably damaging	Het
Slc19a1	T	A	10: 76,877,672 (GRCm39)	M69K	probably benign	Het
Snx1	A	G	9: 66,005,611 (GRCm39)		probably null	Het
Spmip5	T	G	19: 58,781,194 (GRCm39)	K10T	probably benign	Het
Stx18	G	A	5: 38,292,599 (GRCm39)	V234M	probably damaging	Het
Sulf2	T	C	2: 165,923,281 (GRCm39)	T615A	probably damaging	Het
Sult3a2	T	A	10: 33,655,705 (GRCm39)	K91N	probably benign	Het
Tet1	A	G	10: 62,650,256 (GRCm39)	S22P	probably damaging	Het
Tmc3	T	C	7: 83,253,940 (GRCm39)	V362A	probably damaging	Het
Trim16	A	C	11: 62,711,331 (GRCm39)	M1L	possibly damaging	Het
Trp53bp1	C	T	2: 121,082,481 (GRCm39)	V10I	possibly damaging	Het
Ttc12	T	G	9: 49,369,415 (GRCm39)	D235A	probably benign	Het
Ttn	T	C	2: 76,692,727 (GRCm39)	R452G	possibly damaging	Het
Ugt2b38	A	T	5: 87,559,730 (GRCm39)	H387Q	probably damaging	Het
Usp48	T	A	4: 137,360,733 (GRCm39)	L20*	probably null	Het
Utrn	T	C	10: 12,539,263 (GRCm39)	D1918G	probably damaging	Het
Vmn1r158	A	G	7: 22,490,072 (GRCm39)	S46P	probably benign	Het
Vmn2r97	T	A	17: 19,149,397 (GRCm39)	W262R	probably benign	Het
Vps13d	A	T	4: 144,869,830 (GRCm39)	S1917T	possibly damaging	Het
Vsx1	T	C	2: 150,528,120 (GRCm39)	N158D	probably benign	Het
Vwf	G	A	6: 125,623,245 (GRCm39)	V1781I	probably benign	Het
Wrap73	T	C	4: 154,233,209 (GRCm39)	Y128H	possibly damaging	Het
Zfp472	A	G	17: 33,196,311 (GRCm39)	K129E	possibly damaging	Het
Zscan18	A	T	7: 12,504,784 (GRCm39)	L611Q	probably damaging	Het

Other mutations in Slc30a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01295:Slc30a8	APN	15	52,169,955 (GRCm39)	missense	possibly damaging	0.47
IGL01823:Slc30a8	APN	15	52,159,358 (GRCm39)	splice site	probably benign
IGL01988:Slc30a8	APN	15	52,198,601 (GRCm39)	missense	probably benign	0.00
IGL02517:Slc30a8	APN	15	52,198,530 (GRCm39)	missense	probably benign	0.34
IGL03376:Slc30a8	APN	15	52,169,853 (GRCm39)	nonsense	probably null
R0480:Slc30a8	UTSW	15	52,188,966 (GRCm39)	missense	probably benign
R1014:Slc30a8	UTSW	15	52,194,993 (GRCm39)	missense	probably damaging	1.00
R1827:Slc30a8	UTSW	15	52,194,953 (GRCm39)	splice site	probably null
R2126:Slc30a8	UTSW	15	52,159,330 (GRCm39)	missense	probably benign	0.00
R2232:Slc30a8	UTSW	15	52,169,960 (GRCm39)	missense	probably benign	0.00
R3911:Slc30a8	UTSW	15	52,185,097 (GRCm39)	missense	probably benign	0.22
R4613:Slc30a8	UTSW	15	52,196,971 (GRCm39)	missense	probably benign	0.02
R4820:Slc30a8	UTSW	15	52,169,880 (GRCm39)	missense	probably benign	0.00
R5790:Slc30a8	UTSW	15	52,197,043 (GRCm39)	missense	possibly damaging	0.46
R6020:Slc30a8	UTSW	15	52,189,054 (GRCm39)	missense	probably damaging	1.00
R6125:Slc30a8	UTSW	15	52,198,530 (GRCm39)	missense	probably benign	0.15
R6250:Slc30a8	UTSW	15	52,198,545 (GRCm39)	missense	probably benign	0.22
R6701:Slc30a8	UTSW	15	52,194,970 (GRCm39)	missense	possibly damaging	0.84
R7227:Slc30a8	UTSW	15	52,195,032 (GRCm39)	missense	probably benign	0.00
R7313:Slc30a8	UTSW	15	52,180,707 (GRCm39)	missense	probably damaging	1.00
R7997:Slc30a8	UTSW	15	52,189,081 (GRCm39)	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ATCAGTCTCAAAGCCTTCGGCAG -3'
(R):5'- TGTGCAATCAGCTCAGAGGATGC -3'

Sequencing Primer
(F):5'- TCGGCAGAGGCAGATTTTTAAAC -3'
(R):5'- TCAGCTCAGAGGATGCAATTGG -3'

Posted On

2014-05-23