Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Slc30a8'

487365

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

044272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6125 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

52158949-52199194 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52198530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 325 (D325G)

Ref Sequence

ENSEMBL: ENSMUSP00000035257 (fasta)

Gene Model

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

AlphaFold

Q8BGG0

Predicted Effect

probably benign
Transcript: ENSMUST00000037240
AA Change: D325G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: D325G

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

Meta Mutation Damage Score

0.1539

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mdm4	G	A	1: 132,922,248 (GRCm39)	T298I	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	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
R1725:Slc30a8	UTSW	15	52,197,000 (GRCm39)	missense	possibly damaging	0.93
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
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'- TAAAATCGGCTCCTGCTTCAG -3'
(R):5'- TGCTGCATCTTATCATGGCCTAG -3'

Sequencing Primer
(F):5'- TGCTCACATGCATGCGTG -3'
(R):5'- CTGCATCTTATCATGGCCTAGGAAAC -3'

Posted On

2017-10-10