Mutagenetix > Incidental Mutation

Incidental Mutation 'R0355:Slc30a6'

29802

Institutional Source

Beutler Lab

Gene Symbol

Slc30a6

Ensembl Gene

ENSMUSG00000024069

Gene Name

solute carrier family 30 (zinc transporter), member 6

Synonyms

ZnT-6, ZnT6

MMRRC Submission

038561-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R0355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74702603-74731216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74730198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 363 (V363I)

Ref Sequence

ENSEMBL: ENSMUSP00000136503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000052124] [ENSMUST00000179074]

AlphaFold

Q8BJM5

Predicted Effect

probably benign
Transcript: ENSMUST00000024870
AA Change: V358I

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

SMART Domains

Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069
AA Change: V358I

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	336	6.9e-45	PFAM
low complexity region	371	392	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052124

SMART Domains

Protein: ENSMUSP00000059637
Gene: ENSMUSG00000039193

Domain	Start	End	E-Value	Type
Pfam:CARD	1	87	1.4e-20	PFAM
Pfam:NACHT	163	314	1.3e-28	PFAM
SCOP:d1yrga_	734	1015	3e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179074
AA Change: V363I

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

SMART Domains

Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069
AA Change: V363I

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	34	260	5.7e-30	PFAM
low complexity region	376	397	N/A	INTRINSIC

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 90.2%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,023,021 (GRCm39)	I52M	possibly damaging	Het
Agbl5	G	T	5: 31,049,335 (GRCm39)		probably null	Het
Akt2	T	C	7: 27,336,334 (GRCm39)		probably benign	Het
Arl6ip5	T	A	6: 97,209,378 (GRCm39)	S138T	probably damaging	Het
Atp9b	A	G	18: 80,952,800 (GRCm39)		probably benign	Het
Ccdc171	A	T	4: 83,553,919 (GRCm39)	N422Y	probably damaging	Het
Ccr5	C	T	9: 123,924,951 (GRCm39)	P185S	possibly damaging	Het
Cep63	G	T	9: 102,500,759 (GRCm39)	Q38K	probably benign	Het
Cgn	T	C	3: 94,682,242 (GRCm39)	S446G	probably benign	Het
Col16a1	T	A	4: 129,952,206 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 15,968,330 (GRCm39)	Q3099L	probably damaging	Het
Dcc	G	A	18: 71,708,279 (GRCm39)	T479I	possibly damaging	Het
Dclre1a	A	G	19: 56,535,067 (GRCm39)		probably null	Het
Dlg1	T	A	16: 31,502,992 (GRCm39)	C66*	probably null	Het
Dnah12	T	A	14: 26,427,272 (GRCm39)		probably null	Het
Dnajb9	T	A	12: 44,253,987 (GRCm39)	H140L	probably damaging	Het
Dnase1	G	A	16: 3,857,413 (GRCm39)	V237M	probably damaging	Het
Dscam	C	A	16: 96,456,105 (GRCm39)	E1274D	probably benign	Het
Epb41	T	C	4: 131,727,572 (GRCm39)	H243R	probably damaging	Het
Evc	T	A	5: 37,473,656 (GRCm39)		probably benign	Het
Fcgrt	T	A	7: 44,752,493 (GRCm39)	M1L	unknown	Het
Flii	T	C	11: 60,610,506 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,298,355 (GRCm39)		probably benign	Het
Gm10447	T	C	11: 53,347,257 (GRCm39)		probably benign	Het
Gm57858	A	G	3: 36,101,054 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,055,975 (GRCm39)		noncoding transcript	Het
Gpr137	G	C	19: 6,916,491 (GRCm39)	D253E	probably damaging	Het
Grid2ip	A	T	5: 143,343,652 (GRCm39)	D116V	probably benign	Het
Grin2c	A	G	11: 115,151,554 (GRCm39)		probably benign	Het
Havcr1	A	G	11: 46,647,051 (GRCm39)	T162A	possibly damaging	Het
Hspa1l	A	T	17: 35,196,386 (GRCm39)	T142S	probably benign	Het
Ift140	T	A	17: 25,267,409 (GRCm39)	Y602*	probably null	Het
Il18	T	A	9: 50,490,575 (GRCm39)		probably benign	Het
Ilf3	T	C	9: 21,309,266 (GRCm39)	V474A	probably damaging	Het
Inppl1	T	C	7: 101,476,664 (GRCm39)	Y771C	probably damaging	Het
Ints2	T	C	11: 86,125,575 (GRCm39)	T542A	probably benign	Het
Ipo7	T	C	7: 109,648,868 (GRCm39)	Y714H	probably benign	Het
Itgbl1	T	A	14: 124,077,997 (GRCm39)	C162*	probably null	Het
Kcp	T	C	6: 29,496,926 (GRCm39)	H561R	possibly damaging	Het
Krt23	G	T	11: 99,376,613 (GRCm39)	T181N	probably benign	Het
Lrrc40	A	T	3: 157,746,108 (GRCm39)	D61V	probably damaging	Het
Lypd4	T	A	7: 24,564,691 (GRCm39)	H149L	probably benign	Het
Map3k4	A	G	17: 12,473,058 (GRCm39)	F953L	probably damaging	Het
Mctp1	C	T	13: 76,972,982 (GRCm39)	P405S	probably damaging	Het
Mfsd2a	G	A	4: 122,845,632 (GRCm39)	T173I	possibly damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Nell2	A	G	15: 95,330,782 (GRCm39)	V213A	probably benign	Het
Nipsnap1	G	A	11: 4,839,957 (GRCm39)	G226E	probably damaging	Het
Nudt15	T	C	14: 73,760,824 (GRCm39)	Y89C	probably damaging	Het
Or10g7	T	A	9: 39,905,459 (GRCm39)	S118T	possibly damaging	Het
Or10h28	T	A	17: 33,488,109 (GRCm39)	M137K	probably damaging	Het
Or13p3	T	A	4: 118,566,808 (GRCm39)	M68K	probably benign	Het
Or7a37	T	G	10: 78,806,267 (GRCm39)	S261R	probably damaging	Het
Phf24	A	C	4: 42,933,891 (GRCm39)	E91A	probably damaging	Het
Plbd1	T	A	6: 136,618,165 (GRCm39)	N17I	possibly damaging	Het
Por	C	T	5: 135,761,438 (GRCm39)	S308L	probably benign	Het
Prmt8	T	A	6: 127,688,837 (GRCm39)	K178*	probably null	Het
Rev3l	A	G	10: 39,693,282 (GRCm39)	N454S	probably damaging	Het
Rps6ka2	T	C	17: 7,539,009 (GRCm39)	V309A	probably benign	Het
Slc15a5	A	G	6: 137,995,112 (GRCm39)		probably benign	Het
Snf8	G	A	11: 95,930,125 (GRCm39)	M42I	probably benign	Het
Stom	T	C	2: 35,215,371 (GRCm39)	I65V	probably benign	Het
Tacr3	C	T	3: 134,637,989 (GRCm39)	T382I	probably benign	Het
Tenm3	A	G	8: 48,682,010 (GRCm39)	V2540A	probably damaging	Het
Trabd	A	G	15: 88,969,816 (GRCm39)	T314A	possibly damaging	Het
Tyk2	T	C	9: 21,025,486 (GRCm39)		probably null	Het
Ube4a	T	C	9: 44,856,099 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,589,015 (GRCm39)	H1060R	possibly damaging	Het
Virma	A	T	4: 11,528,626 (GRCm39)	K1288*	probably null	Het
Vmn2r100	A	C	17: 19,751,582 (GRCm39)	I542L	probably benign	Het
Vwde	T	C	6: 13,187,806 (GRCm39)		probably benign	Het
Zfc3h1	T	C	10: 115,245,018 (GRCm39)	I797T	possibly damaging	Het
Zfp74	C	T	7: 29,653,466 (GRCm39)		probably benign	Het
Zkscan7	T	A	9: 122,717,872 (GRCm39)	L89Q	probably damaging	Het

Other mutations in Slc30a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Slc30a6	APN	17	74,715,834 (GRCm39)	splice site	probably benign
IGL01592:Slc30a6	APN	17	74,726,523 (GRCm39)	splice site	probably benign
IGL02556:Slc30a6	APN	17	74,711,054 (GRCm39)	missense	probably damaging	1.00
IGL03033:Slc30a6	APN	17	74,716,373 (GRCm39)	nonsense	probably null
IGL03149:Slc30a6	APN	17	74,730,018 (GRCm39)	missense	probably damaging	1.00
R0791:Slc30a6	UTSW	17	74,722,640 (GRCm39)	missense	possibly damaging	0.89
R0792:Slc30a6	UTSW	17	74,722,640 (GRCm39)	missense	possibly damaging	0.89
R1507:Slc30a6	UTSW	17	74,715,857 (GRCm39)	missense	probably damaging	1.00
R1517:Slc30a6	UTSW	17	74,715,842 (GRCm39)	missense	probably benign	0.25
R1585:Slc30a6	UTSW	17	74,725,610 (GRCm39)	splice site	probably benign
R1944:Slc30a6	UTSW	17	74,715,858 (GRCm39)	missense	probably damaging	0.99
R2925:Slc30a6	UTSW	17	74,708,999 (GRCm39)	splice site	probably benign
R3891:Slc30a6	UTSW	17	74,726,541 (GRCm39)	missense	probably benign	0.19
R4840:Slc30a6	UTSW	17	74,712,716 (GRCm39)	missense	probably damaging	1.00
R4863:Slc30a6	UTSW	17	74,719,649 (GRCm39)	missense	possibly damaging	0.84
R5330:Slc30a6	UTSW	17	74,730,190 (GRCm39)	missense	probably benign	0.24
R5331:Slc30a6	UTSW	17	74,730,190 (GRCm39)	missense	probably benign	0.24
R5562:Slc30a6	UTSW	17	74,719,700 (GRCm39)	missense	possibly damaging	0.91
R6458:Slc30a6	UTSW	17	74,730,108 (GRCm39)	missense	probably damaging	1.00
R6681:Slc30a6	UTSW	17	74,711,027 (GRCm39)	missense	possibly damaging	0.53
R7419:Slc30a6	UTSW	17	74,730,424 (GRCm39)	missense	probably benign
R7457:Slc30a6	UTSW	17	74,714,233 (GRCm39)	missense	probably benign	0.05
R7596:Slc30a6	UTSW	17	74,722,664 (GRCm39)	missense	probably benign	0.00
R7844:Slc30a6	UTSW	17	74,711,088 (GRCm39)	splice site	probably null
R8043:Slc30a6	UTSW	17	74,730,018 (GRCm39)	missense	probably damaging	0.99
R8097:Slc30a6	UTSW	17	74,719,693 (GRCm39)	missense	possibly damaging	0.92
R8465:Slc30a6	UTSW	17	74,722,661 (GRCm39)	missense	probably benign	0.04
R8557:Slc30a6	UTSW	17	74,712,685 (GRCm39)	missense	possibly damaging	0.82
R8878:Slc30a6	UTSW	17	74,730,112 (GRCm39)	missense	probably damaging	0.99
R9035:Slc30a6	UTSW	17	74,726,586 (GRCm39)	missense	probably benign	0.23
R9432:Slc30a6	UTSW	17	74,719,699 (GRCm39)	missense	possibly damaging	0.66
R9632:Slc30a6	UTSW	17	74,730,059 (GRCm39)	missense	probably benign	0.01
T0722:Slc30a6	UTSW	17	74,719,319 (GRCm39)	critical splice donor site	probably null
X0003:Slc30a6	UTSW	17	74,719,319 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCGACGAGATGCGAACGAAC -3'
(R):5'- GCAAGAAGTCGCTATTCCCCATCAC -3'

Sequencing Primer
(F):5'- CGAACAAATGGTCCTTGCTC -3'
(R):5'- ACTCCTGGAAATGCGAGTC -3'

Posted On

2013-04-24