Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02332:Slc39a6'

288712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc39a6

Ensembl Gene

ENSMUSG00000024270

Gene Name

solute carrier family 39 (metal ion transporter), member 6

Synonyms

Ermelin

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

24579881-24603817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24589823 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 473 (D473E)

Ref Sequence

ENSEMBL: ENSMUSP00000064667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070726] [ENSMUST00000154205]

Predicted Effect

probably benign
Transcript: ENSMUST00000070726
AA Change: D473E

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: D473E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	94	141	N/A	INTRINSIC
low complexity region	187	198	N/A	INTRINSIC
Pfam:Zip	332	753	3e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154205
AA Change: D189E

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

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: D189E

Domain	Start	End	E-Value	Type
Pfam:Zip	48	433	2e-94	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele do not display any gross skin abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Adam29	T	A	8: 55,871,740	I560F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Ermard	A	C	17: 14,990,545		probably null	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Ndn	T	A	7: 62,348,825	C140S	probably damaging	Het
Nek5	G	T	8: 22,095,261	Q367K	probably benign	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Nup133	A	T	8: 123,907,832	L1007Q	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	probably benign	Het

Other mutations in Slc39a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Slc39a6	APN	18	24589745	critical splice donor site	probably null
IGL01412:Slc39a6	APN	18	24585356	missense	probably damaging	1.00
IGL02182:Slc39a6	APN	18	24601290	missense	probably damaging	0.99
IGL02648:Slc39a6	APN	18	24582367	missense	probably damaging	1.00
R0066:Slc39a6	UTSW	18	24599269	missense	probably damaging	1.00
R0066:Slc39a6	UTSW	18	24599269	missense	probably damaging	1.00
R0729:Slc39a6	UTSW	18	24601470	missense	probably benign	0.00
R1128:Slc39a6	UTSW	18	24585292	missense	probably damaging	1.00
R1621:Slc39a6	UTSW	18	24600889	missense	probably benign	0.08
R1799:Slc39a6	UTSW	18	24585467	missense	probably benign	0.00
R1800:Slc39a6	UTSW	18	24585202	missense	probably damaging	1.00
R1885:Slc39a6	UTSW	18	24601482	unclassified	probably null
R4159:Slc39a6	UTSW	18	24597828	missense	possibly damaging	0.88
R4809:Slc39a6	UTSW	18	24585474	nonsense	probably null
R4903:Slc39a6	UTSW	18	24597868	missense	probably damaging	1.00
R4994:Slc39a6	UTSW	18	24596294	missense	probably damaging	1.00
R5352:Slc39a6	UTSW	18	24601036	missense	probably benign	0.00
R5398:Slc39a6	UTSW	18	24597879	missense	probably damaging	1.00
R5832:Slc39a6	UTSW	18	24601612	missense	possibly damaging	0.81
R6182:Slc39a6	UTSW	18	24600956	missense	probably benign	0.16
R6853:Slc39a6	UTSW	18	24599319	missense	possibly damaging	0.71
R7226:Slc39a6	UTSW	18	24584027	missense	probably damaging	1.00
R7252:Slc39a6	UTSW	18	24601385	missense	possibly damaging	0.64
R7263:Slc39a6	UTSW	18	24601203	missense	probably benign
R7328:Slc39a6	UTSW	18	24600930	missense	probably benign	0.00
R7388:Slc39a6	UTSW	18	24584049	missense	probably damaging	1.00
R7395:Slc39a6	UTSW	18	24585275	missense	probably damaging	1.00
X0065:Slc39a6	UTSW	18	24585375	missense	possibly damaging	0.95
Z1176:Slc39a6	UTSW	18	24585315	missense	probably damaging	1.00

Posted On

2015-04-16