Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Slc30a6'

168033

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

039555-MU

Accession Numbers

Essential gene?

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

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74702603-74731216 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74715857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 106 (V106F)

Ref Sequence

ENSEMBL: ENSMUSP00000136503 (fasta)

Gene Model

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

AlphaFold

Q8BJM5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024870
AA Change: V101F

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

SMART Domains

Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069
AA Change: V101F

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 damaging
Transcript: ENSMUST00000179074
AA Change: V106F

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

SMART Domains

Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069
AA Change: V106F

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

0.7664

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cdc14a	G	A	3: 116,087,646 (GRCm39)	T455I	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	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
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'- GTGAGGAACAGTTAAAACAGGGTCACT -3'
(R):5'- TGAGCCTCTTCCATTCAGATTCACCTA -3'

Sequencing Primer
(F):5'- agccttcccccagcctc -3'
(R):5'- TAGCAGAGCTTGAACACTGTC -3'

Posted On

2014-04-13