Mutagenetix > Incidental Mutation

Incidental Mutation 'R8889:Slc39a6'

677597

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

068693-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.641) question?

Stock #

R8889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24712938-24736874 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 24729386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 442 (Y442*)

Ref Sequence

ENSEMBL: ENSMUSP00000064667 (fasta)

Gene Model

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

AlphaFold

Q8C145

Predicted Effect

probably null
Transcript: ENSMUST00000070726
AA Change: Y442*

SMART Domains

Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: Y442*

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 null
Transcript: ENSMUST00000154205
AA Change: Y158*

SMART Domains

Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: Y158*

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	A	7: 119,815,606 (GRCm39)	L285I	probably damaging	Het
Abcc2	T	G	19: 43,795,571 (GRCm39)	S442R	possibly damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Ank1	T	C	8: 23,606,990 (GRCm39)	L1297P	probably damaging	Het
Ap3b1	G	A	13: 94,679,348 (GRCm39)	V997M	unknown	Het
Ash2l	T	C	8: 26,313,247 (GRCm39)	K413R	probably benign	Het
Cacnb1	A	T	11: 97,901,192 (GRCm39)	V220E	probably damaging	Het
Cacul1	A	T	19: 60,568,960 (GRCm39)	L66Q	probably damaging	Het
Camkv	C	T	9: 107,823,333 (GRCm39)	R120*	probably null	Het
Ccny	T	G	18: 9,345,235 (GRCm39)	S180R	probably damaging	Het
Cdh23	G	T	10: 60,143,284 (GRCm39)	H3012Q	probably damaging	Het
Clasp2	T	A	9: 113,709,251 (GRCm39)	L680Q	probably damaging	Het
Clip1	A	T	5: 123,717,565 (GRCm39)	S1241R	probably benign	Het
Cthrc1	T	A	15: 38,940,445 (GRCm39)	L16H	probably damaging	Het
Ctnna1	G	A	18: 35,372,586 (GRCm39)	V514I	possibly damaging	Het
Ddr1	A	C	17: 35,993,556 (GRCm39)	I852S	probably benign	Het
Echs1	A	C	7: 139,688,031 (GRCm39)	L258R	probably damaging	Het
Epha8	G	T	4: 136,661,850 (GRCm39)	H582N	probably benign	Het
Exph5	G	T	9: 53,287,955 (GRCm39)	G1679W	probably damaging	Het
Fhod3	G	A	18: 25,189,452 (GRCm39)		probably null	Het
Gm10803	G	A	2: 93,394,281 (GRCm39)	D18N	unknown	Het
Gpr152	T	A	19: 4,192,723 (GRCm39)	I88N	probably damaging	Het
Gpr179	T	C	11: 97,226,590 (GRCm39)	D1855G	possibly damaging	Het
H2al2a	T	A	2: 18,001,599 (GRCm39)	D29V	probably damaging	Het
Hnrnpf	T	G	6: 117,901,753 (GRCm39)	S346A	probably benign	Het
Hsd11b2	C	T	8: 106,249,263 (GRCm39)	R213C	probably damaging	Het
Il17rd	A	G	14: 26,821,930 (GRCm39)	D552G	possibly damaging	Het
Ipo9	T	C	1: 135,314,544 (GRCm39)	N904S	possibly damaging	Het
Klhl14	T	G	18: 21,691,220 (GRCm39)	T437P	possibly damaging	Het
Krt5	T	C	15: 101,619,185 (GRCm39)	M268V	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Ltn1	A	T	16: 87,229,230 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,249,036 (GRCm39)	L7165P	probably damaging	Het
Micall2	T	A	5: 139,703,254 (GRCm39)	H194L	probably damaging	Het
Mmp16	T	A	4: 18,051,820 (GRCm39)	Y270N	probably damaging	Het
Nme6	T	G	9: 109,668,706 (GRCm39)	F41V	probably damaging	Het
Npffr1	A	G	10: 61,449,939 (GRCm39)	N71S	possibly damaging	Het
Or1p4-ps1	T	C	11: 74,207,949 (GRCm39)	W33R	probably damaging	Het
Or4k41	A	G	2: 111,279,967 (GRCm39)	I161V	probably benign	Het
Pard3b	T	A	1: 62,677,026 (GRCm39)	Y1186N	probably damaging	Het
Pate5	T	A	9: 35,750,682 (GRCm39)	T47S	probably damaging	Het
Pcca	A	G	14: 122,795,123 (GRCm39)		probably benign	Het
Plekha8	A	G	6: 54,592,540 (GRCm39)		probably benign	Het
Ptpn14	T	A	1: 189,554,872 (GRCm39)	L144*	probably null	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdx	C	T	9: 51,997,753 (GRCm39)	R576C	probably damaging	Het
Rnf135	C	T	11: 80,074,957 (GRCm39)	T72I	probably benign	Het
Robo4	G	T	9: 37,314,601 (GRCm39)	R196L	probably benign	Het
Rsf1	G	GACGTCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rsf1	A	T	7: 97,328,171 (GRCm39)	I1058F		Het
Ryr2	A	T	13: 11,799,990 (GRCm39)	V919E	probably damaging	Het
Slc4a11	T	G	2: 130,529,140 (GRCm39)	S437R	probably damaging	Het
Slc7a6	T	A	8: 106,922,534 (GRCm39)	V440E	probably damaging	Het
Sox2	A	T	3: 34,705,129 (GRCm39)	N189Y	possibly damaging	Het
Spata13	A	T	14: 60,994,030 (GRCm39)	M1161L	probably benign	Het
Spock3	T	A	8: 63,404,986 (GRCm39)	Y51*	probably null	Het
Sptbn1	A	G	11: 30,067,800 (GRCm39)	Y1805H	probably benign	Het
Tcerg1l	C	T	7: 137,999,260 (GRCm39)	W41*	probably null	Het
Tdrd9	A	G	12: 111,979,718 (GRCm39)	Y401C	probably benign	Het
Tex47	A	T	5: 7,355,115 (GRCm39)	I99F	probably damaging	Het
Tlr9	G	A	9: 106,099,834 (GRCm39)		probably benign	Het
Tmem209	T	A	6: 30,497,942 (GRCm39)	S276C	possibly damaging	Het
Tmprss11f	A	C	5: 86,687,618 (GRCm39)	S97A	possibly damaging	Het
Tnfaip8	ACACACTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Ttc7	T	A	17: 87,637,520 (GRCm39)	M425K	probably damaging	Het
Ttn	C	T	2: 76,739,466 (GRCm39)	G3737D	unknown	Het
Unc13b	A	T	4: 43,176,484 (GRCm39)	R2437S	unknown	Het
Uqcrc1	C	T	9: 108,766,186 (GRCm39)	R58C	probably damaging	Het
Vmn1r128	A	G	7: 21,083,740 (GRCm39)	Y148C	possibly damaging	Het
Vmn1r193	T	C	13: 22,403,839 (GRCm39)	Y51C	probably benign	Het
Vmn2r112	A	G	17: 22,837,612 (GRCm39)	Y691C	probably damaging	Het
Vmn2r25	T	A	6: 123,800,569 (GRCm39)	D591V	probably damaging	Het
Vmn2r94	A	G	17: 18,464,335 (GRCm39)	S652P	possibly damaging	Het
Vps50	T	A	6: 3,536,967 (GRCm39)	C313S	probably damaging	Het
Vwa5b1	A	G	4: 138,338,041 (GRCm39)	V93A	probably benign	Het
Xrcc5	T	G	1: 72,382,190 (GRCm39)	D455E	possibly damaging	Het
Zdhhc6	T	A	19: 55,290,987 (GRCm39)		probably benign	Het
Zfp964	G	A	8: 70,116,405 (GRCm39)	G335D	probably damaging	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
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'- GCTCTACATGAATACCTCTGGGG -3'
(R):5'- CCAGCGAATTAAAAGTGCGTATC -3'

Sequencing Primer
(F):5'- CTGGGGTCCAAAGCACCTTAAAAG -3'
(R):5'- AAAGTGCGTATCATTTCCCTTTCAG -3'

Posted On

2021-08-02