Mutagenetix > Incidental Mutation

Incidental Mutation 'R7263:Slc39a6'

564780

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

045388-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.585) question?

Stock #

R7263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24712938-24736874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24734260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 143 (V143A)

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 benign
Transcript: ENSMUST00000070726
AA Change: V143A

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

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: V143A

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: ENSMUST00000152504

Predicted Effect

probably benign
Transcript: ENSMUST00000154205

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

96% (67/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	C	A	3: 121,847,843 (GRCm39)	H55N	probably damaging	Het
Acan	G	T	7: 78,742,066 (GRCm39)	V488L	probably damaging	Het
Adam12	T	C	7: 133,521,240 (GRCm39)	E638G	possibly damaging	Het
Adamts20	T	A	15: 94,220,772 (GRCm39)	Q1387L	possibly damaging	Het
Adamts3	G	T	5: 89,825,601 (GRCm39)	D1079E	probably benign	Het
Barx1	G	T	13: 48,818,555 (GRCm39)	G93C	probably damaging	Het
Carmil2	C	T	8: 106,419,677 (GRCm39)	R828C	probably damaging	Het
Catsper4	TTCTC	TTC	4: 133,954,423 (GRCm39)		probably null	Het
Ccdc159	T	C	9: 21,843,007 (GRCm39)	M148T	probably benign	Het
Cdk5rap1	T	A	2: 154,202,652 (GRCm39)	N193Y	probably benign	Het
Csnk1g2	G	A	10: 80,470,332 (GRCm39)	G15D	probably damaging	Het
Dach1	T	C	14: 98,406,295 (GRCm39)	S151G	probably benign	Het
Elf5	C	A	2: 103,269,645 (GRCm39)	N75K	probably benign	Het
Elp3	T	C	14: 65,802,782 (GRCm39)	D272G	probably damaging	Het
Epb41l1	T	A	2: 156,337,043 (GRCm39)		probably null	Het
Epha6	A	G	16: 59,596,028 (GRCm39)	Y888H	probably damaging	Het
Fibcd1	T	C	2: 31,707,222 (GRCm39)	Y345C	probably damaging	Het
Gjd3	C	T	11: 102,690,963 (GRCm39)	E347K	possibly damaging	Het
Gse1	A	G	8: 121,300,910 (GRCm39)	D892G	unknown	Het
Gtpbp6	A	T	5: 110,251,915 (GRCm39)	I506N	probably benign	Het
Hivep1	T	A	13: 42,311,668 (GRCm39)	F1303I	possibly damaging	Het
Il21r	A	G	7: 125,232,077 (GRCm39)	T502A	probably benign	Het
Ints1	T	C	5: 139,749,834 (GRCm39)	T997A	possibly damaging	Het
Invs	C	A	4: 48,396,381 (GRCm39)	N351K	probably damaging	Het
Iqcm	A	G	8: 76,489,701 (GRCm39)	T390A	probably benign	Het
Iqcn	A	G	8: 71,163,425 (GRCm39)	N873D	possibly damaging	Het
Kcnh4	C	T	11: 100,632,643 (GRCm39)	G948D	probably benign	Het
Kcnh7	T	A	2: 62,566,314 (GRCm39)		probably null	Het
Lrrc72	A	G	12: 36,258,611 (GRCm39)	V82A	probably damaging	Het
Macf1	A	T	4: 123,271,943 (GRCm39)	L6535Q	probably damaging	Het
Ncor2	G	C	5: 125,109,196 (GRCm39)	L585V		Het
Nipal2	G	C	15: 34,578,904 (GRCm39)	Y298*	probably null	Het
Nipsnap1	C	T	11: 4,832,960 (GRCm39)		probably benign	Het
Or12e1	T	A	2: 87,022,476 (GRCm39)	C148*	probably null	Het
Or4x12-ps1	T	C	2: 89,916,332 (GRCm39)	I158V	not run	Het
Or51g1	A	T	7: 102,633,524 (GRCm39)	Y282*	probably null	Het
Pcdhga4	C	T	18: 37,819,873 (GRCm39)	T474I	probably benign	Het
Pdp1	G	T	4: 11,960,821 (GRCm39)	Q516K	possibly damaging	Het
Pik3c2b	C	T	1: 133,017,940 (GRCm39)	P934L	probably damaging	Het
Pp2d1	A	G	17: 53,822,358 (GRCm39)	I236T	probably benign	Het
Pygm	G	A	19: 6,438,357 (GRCm39)	R278H	probably damaging	Het
Rb1	A	T	14: 73,520,363 (GRCm39)	C215*	probably null	Het
Rgs22	A	G	15: 36,015,789 (GRCm39)	S1156P	possibly damaging	Het
Rgs9bp	T	C	7: 35,284,126 (GRCm39)	T174A	probably damaging	Het
Rnf133	A	T	6: 23,649,667 (GRCm39)	Y130*	probably null	Het
Sctr	G	A	1: 119,949,955 (GRCm39)	R48Q	probably benign	Het
Serpinb6e	A	T	13: 34,022,923 (GRCm39)	F153L	probably benign	Het
Slc22a1	A	T	17: 12,885,587 (GRCm39)	Y200N	probably damaging	Het
Slc22a22	C	A	15: 57,113,107 (GRCm39)	M377I	probably benign	Het
Slc36a4	A	G	9: 15,633,452 (GRCm39)		probably null	Het
Slf2	G	A	19: 44,926,863 (GRCm39)		probably null	Het
Sowaha	T	C	11: 53,370,485 (GRCm39)	K84E	probably benign	Het
Spef2	T	G	15: 9,653,098 (GRCm39)		probably null	Het
Sphkap	A	T	1: 83,254,399 (GRCm39)	F1117I	probably damaging	Het
Tas2r113	T	C	6: 132,870,539 (GRCm39)	I189T	possibly damaging	Het
Tescl	T	C	7: 24,033,247 (GRCm39)	E26G	possibly damaging	Het
Trpm6	A	T	19: 18,854,150 (GRCm39)	I1847F	probably damaging	Het
Uba1y	T	A	Y: 822,200 (GRCm39)	C178S	possibly damaging	Het
Ush2a	T	A	1: 188,175,526 (GRCm39)	V1208D	possibly damaging	Het
Usp13	G	C	3: 32,949,000 (GRCm39)	A446P	probably damaging	Het
Usp7	A	T	16: 8,514,588 (GRCm39)	C722S	possibly damaging	Het
Vmn1r52	A	G	6: 90,156,535 (GRCm39)	S280G	probably benign	Het
Vmn2r84	T	C	10: 130,225,077 (GRCm39)	K478E	probably damaging	Het
Zfp112	C	A	7: 23,824,952 (GRCm39)	L311I	probably benign	Het
Zfp180	G	T	7: 23,805,125 (GRCm39)	E515*	probably null	Het
Zfp518b	A	G	5: 38,829,671 (GRCm39)	I778T	probably damaging	Het
Zfp800	A	T	6: 28,243,662 (GRCm39)	H434Q	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGACAGCGTTGTATACCGC -3'
(R):5'- CCTTGTCTGTTGAAGGCTTCAG -3'

Sequencing Primer
(F):5'- CCGAGGTCACTTCACTAGAGCTTG -3'
(R):5'- GTCTGTTGAAGGCTTCAGAAAATTGC -3'

Posted On

2019-06-26