Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Slc39a8'

558966

Institutional Source

Beutler Lab

Gene Symbol

Slc39a8

Ensembl Gene

ENSMUSG00000053897

Gene Name

solute carrier family 39 (metal ion transporter), member 8

Synonyms

ZIP8, BIGM103, 4933419D20Rik

MMRRC Submission

045270-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135531040-135594333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135563299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 203 (F203S)

Ref Sequence

ENSEMBL: ENSMUSP00000029810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029810] [ENSMUST00000081978] [ENSMUST00000167390] [ENSMUST00000180196]

AlphaFold

Q91W10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029810
AA Change: F203S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: F203S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Zip	126	453	6.2e-76	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081978
AA Change: F203S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: F203S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Zip	126	453	4.7e-72	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167390
AA Change: F203S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: F203S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Zip	126	453	4.7e-72	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180196
AA Change: F203S

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: F203S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Zip	126	453	4.7e-72	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	Het

Other mutations in Slc39a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Slc39a8	APN	3	135,563,873 (GRCm39)	missense	probably benign
IGL00793:Slc39a8	APN	3	135,590,494 (GRCm39)	missense	probably benign	0.00
IGL02591:Slc39a8	APN	3	135,590,381 (GRCm39)	missense	probably damaging	1.00
IGL02868:Slc39a8	APN	3	135,561,787 (GRCm39)	missense	probably damaging	1.00
IGL03062:Slc39a8	APN	3	135,592,558 (GRCm39)	splice site	probably benign
IGL03144:Slc39a8	APN	3	135,589,971 (GRCm39)	missense	probably benign	0.01
IGL03329:Slc39a8	APN	3	135,590,474 (GRCm39)	missense	probably damaging	0.98
R1449:Slc39a8	UTSW	3	135,532,446 (GRCm39)	missense	probably benign	0.41
R2869:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2869:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2870:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2870:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2871:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2871:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2872:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2872:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2873:Slc39a8	UTSW	3	135,592,554 (GRCm39)	splice site	probably null
R2937:Slc39a8	UTSW	3	135,592,584 (GRCm39)	missense	probably benign	0.00
R3832:Slc39a8	UTSW	3	135,554,894 (GRCm39)	missense	probably damaging	0.96
R4669:Slc39a8	UTSW	3	135,561,772 (GRCm39)	missense	probably benign	0.35
R5057:Slc39a8	UTSW	3	135,554,790 (GRCm39)	missense	probably benign	0.00
R5098:Slc39a8	UTSW	3	135,563,918 (GRCm39)	missense	probably benign	0.01
R5677:Slc39a8	UTSW	3	135,590,449 (GRCm39)	missense	probably damaging	1.00
R6747:Slc39a8	UTSW	3	135,554,941 (GRCm39)	critical splice donor site	probably null
R7459:Slc39a8	UTSW	3	135,592,672 (GRCm39)	missense	probably damaging	1.00
R7506:Slc39a8	UTSW	3	135,590,067 (GRCm39)	missense	probably benign	0.03
R7589:Slc39a8	UTSW	3	135,590,123 (GRCm39)	missense	probably damaging	0.96
R7860:Slc39a8	UTSW	3	135,590,157 (GRCm39)	missense	probably damaging	1.00
R8059:Slc39a8	UTSW	3	135,532,347 (GRCm39)	missense	probably benign	0.00
R8096:Slc39a8	UTSW	3	135,590,417 (GRCm39)	missense	probably damaging	1.00
R8144:Slc39a8	UTSW	3	135,590,404 (GRCm39)	nonsense	probably null
R8218:Slc39a8	UTSW	3	135,563,325 (GRCm39)	missense	probably benign	0.03
R9431:Slc39a8	UTSW	3	135,563,923 (GRCm39)	missense	probably benign	0.03
R9595:Slc39a8	UTSW	3	135,592,688 (GRCm39)	missense	possibly damaging	0.81
X0023:Slc39a8	UTSW	3	135,532,305 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGTGGACTTATGACTTCAGG -3'
(R):5'- TGTACAAGATTCCATGGTTTCTGC -3'

Sequencing Primer
(F):5'- GTGGACTTATGACTTCAGGAAAATTG -3'
(R):5'- GGGCATACAAATTATCCACATCTATC -3'

Posted On

2019-06-26