Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Slc30a6'

517458

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

044593-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.431) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74702603-74731216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74730108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 333 (T333A)

Ref Sequence

ENSEMBL: ENSMUSP00000136503 (fasta)

Gene Model

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

AlphaFold

Q8BJM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024870
AA Change: T328A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069
AA Change: T328A

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 damaging
Transcript: ENSMUST00000179074
AA Change: T333A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069
AA Change: T333A

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

0.7626

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,350,089 (GRCm39)	I374N	probably damaging	Het
Gadl1	T	A	9: 115,870,070 (GRCm39)	*479K	probably null	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Srek1	A	T	13: 103,880,076 (GRCm39)	V494E	probably benign	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	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
R0355:Slc30a6	UTSW	17	74,730,198 (GRCm39)	missense	probably benign
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
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'- AGTCCATCTTTTCAAGGGTCAC -3'
(R):5'- TCAGAAGAATAACCGGGCTC -3'

Sequencing Primer
(F):5'- GGGCTACACAGAGAAACTCTTTGTC -3'
(R):5'- AGAATAACCGGGCTCACGTTTTTC -3'

Posted On

2018-05-21