Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Slc39a8'

253529

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

040458-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2870 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135531040-135594333 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 135592554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136634 (fasta)

Gene Model

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

AlphaFold

Q91W10

Predicted Effect

probably null
Transcript: ENSMUST00000029810

SMART Domains

Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897

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

Predicted Effect

probably null
Transcript: ENSMUST00000081978

SMART Domains

Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133810

Predicted Effect

probably null
Transcript: ENSMUST00000167390

SMART Domains

Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897

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

Predicted Effect

probably null
Transcript: ENSMUST00000180196

SMART Domains

Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mdm1	A	G	10: 117,986,847 (GRCm39)	T267A	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875 (GRCm39)		silent	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	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
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
R7181:Slc39a8	UTSW	3	135,563,299 (GRCm39)	missense	possibly damaging	0.93
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'- AGGTACATTCTATCTGGCTGTG -3'
(R):5'- TTAAATGCCTTCCCGCGTTG -3'

Sequencing Primer
(F):5'- GTACATTCTATCTGGCTGTGTGACC -3'
(R):5'- CGCGTTGACGTTATACTCCAC -3'

Posted On

2014-12-04