Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Slc39a6'

699164

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24712938-24736874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24732323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 322 (A322T)

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: A322T

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: A322T

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
AA Change: A38T

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

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: A38T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 107,931,638 (GRCm39)	A354T	probably damaging	Het
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,165,325 (GRCm39)	K857R	probably benign	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Pias2	T	A	18: 77,216,677 (GRCm39)	V296E	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Uggt2	A	G	14: 119,279,006 (GRCm39)	Y834H	probably damaging	Het
Upp2	T	C	2: 58,670,065 (GRCm39)	L257P	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	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
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
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'- ATTTAGAACATTCAGGTCACAGAAC -3'
(R):5'- TAAAGGTGATGAGTCAGACTGC -3'

Sequencing Primer
(F):5'- CAACTAAGACATTGTATCTAGAGCG -3'
(R):5'- CAGACTGCATTTTAGAGTCTTCCAG -3'

Posted On

2022-02-07