Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Slc39a6'

16264

Institutional Source

Beutler Lab

Gene Symbol

Slc39a6

Ensembl Gene

ENSMUSG00000024270

Gene Name

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

Synonyms

Ermelin, Zip6

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R0066 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24712938-24736874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24732326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 321 (K321E)

Ref Sequence

ENSEMBL: ENSMUSP00000064667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025120] [ENSMUST00000070726] [ENSMUST00000152504] [ENSMUST00000154205]

AlphaFold

Q8C145

Predicted Effect

probably benign
Transcript: ENSMUST00000025120

SMART Domains

Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271

Domain	Start	End	E-Value	Type
WD40	47	91	1.06e-3	SMART
WD40	94	143	2.24e-2	SMART
WD40	196	237	4.69e-5	SMART
WD40	271	319	2.44e-3	SMART
Blast:WD40	329	368	1e-20	BLAST
WD40	376	415	2.12e-3	SMART
WD40	429	467	1.71e1	SMART
WD40	556	600	7.43e-1	SMART
WD40	603	642	1.93e-6	SMART
WD40	661	697	1.55e-5	SMART
Blast:WD40	709	753	7e-21	BLAST
WD40	766	825	1.92e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000070726
AA Change: K321E

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

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: K321E

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

noncoding transcript
Transcript: ENSMUST00000128106

Predicted Effect

probably benign
Transcript: ENSMUST00000152504

Predicted Effect

probably benign
Transcript: ENSMUST00000154205
AA Change: K37E

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: K37E

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

Meta Mutation Damage Score

0.0616

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bptf	A	G	11: 106,952,962 (GRCm39)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,711,858 (GRCm39)		probably null	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm19618	A	T	6: 87,691,227 (GRCm39)			Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Ighv1-4	A	G	12: 114,450,989 (GRCm39)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het

Other mutations in Slc39a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00943:Slc39a6	APN	18	24,722,802 (GRCm39)	critical splice donor site	probably null
IGL01412:Slc39a6	APN	18	24,718,413 (GRCm39)	missense	probably damaging	1.00
IGL02182:Slc39a6	APN	18	24,734,347 (GRCm39)	missense	probably damaging	0.99
IGL02332:Slc39a6	APN	18	24,722,880 (GRCm39)	missense	probably benign	0.22
IGL02648:Slc39a6	APN	18	24,715,424 (GRCm39)	missense	probably damaging	1.00
Lobar	UTSW	18	24,729,386 (GRCm39)	nonsense	probably null
R0066:Slc39a6	UTSW	18	24,732,326 (GRCm39)	missense	probably damaging	1.00
R0729:Slc39a6	UTSW	18	24,734,527 (GRCm39)	missense	probably benign	0.00
R1128:Slc39a6	UTSW	18	24,718,349 (GRCm39)	missense	probably damaging	1.00
R1621:Slc39a6	UTSW	18	24,733,946 (GRCm39)	missense	probably benign	0.08
R1799:Slc39a6	UTSW	18	24,718,524 (GRCm39)	missense	probably benign	0.00
R1800:Slc39a6	UTSW	18	24,718,259 (GRCm39)	missense	probably damaging	1.00
R1885:Slc39a6	UTSW	18	24,734,539 (GRCm39)	splice site	probably null
R4159:Slc39a6	UTSW	18	24,730,885 (GRCm39)	missense	possibly damaging	0.88
R4809:Slc39a6	UTSW	18	24,718,531 (GRCm39)	nonsense	probably null
R4903:Slc39a6	UTSW	18	24,730,925 (GRCm39)	missense	probably damaging	1.00
R4994:Slc39a6	UTSW	18	24,729,351 (GRCm39)	missense	probably damaging	1.00
R5352:Slc39a6	UTSW	18	24,734,093 (GRCm39)	missense	probably benign	0.00
R5398:Slc39a6	UTSW	18	24,730,936 (GRCm39)	missense	probably damaging	1.00
R5832:Slc39a6	UTSW	18	24,734,669 (GRCm39)	missense	possibly damaging	0.81
R6182:Slc39a6	UTSW	18	24,734,013 (GRCm39)	missense	probably benign	0.16
R6853:Slc39a6	UTSW	18	24,732,376 (GRCm39)	missense	possibly damaging	0.71
R7226:Slc39a6	UTSW	18	24,717,084 (GRCm39)	missense	probably damaging	1.00
R7252:Slc39a6	UTSW	18	24,734,442 (GRCm39)	missense	possibly damaging	0.64
R7263:Slc39a6	UTSW	18	24,734,260 (GRCm39)	missense	probably benign
R7328:Slc39a6	UTSW	18	24,733,987 (GRCm39)	missense	probably benign	0.00
R7388:Slc39a6	UTSW	18	24,717,106 (GRCm39)	missense	probably damaging	1.00
R7395:Slc39a6	UTSW	18	24,718,332 (GRCm39)	missense	probably damaging	1.00
R8393:Slc39a6	UTSW	18	24,732,331 (GRCm39)	missense	possibly damaging	0.89
R8695:Slc39a6	UTSW	18	24,736,811 (GRCm39)	unclassified	probably benign
R8889:Slc39a6	UTSW	18	24,729,386 (GRCm39)	nonsense	probably null
R8892:Slc39a6	UTSW	18	24,729,386 (GRCm39)	nonsense	probably null
R9172:Slc39a6	UTSW	18	24,715,399 (GRCm39)	missense	probably damaging	0.99
R9178:Slc39a6	UTSW	18	24,733,970 (GRCm39)	missense	probably damaging	0.99
R9215:Slc39a6	UTSW	18	24,732,323 (GRCm39)	missense	probably benign	0.04
R9349:Slc39a6	UTSW	18	24,718,493 (GRCm39)	missense	probably benign
X0065:Slc39a6	UTSW	18	24,718,432 (GRCm39)	missense	possibly damaging	0.95
Z1176:Slc39a6	UTSW	18	24,718,372 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-01-20