Mutagenetix > Incidental Mutation

Incidental Mutation 'R2937:Slc39a8'

255041

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

040514-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2937 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135531040-135594333 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135592584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 420 (M420V)

Ref Sequence

ENSEMBL: ENSMUSP00000136634 (fasta)

Gene Model

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

AlphaFold

Q91W10

Predicted Effect

probably benign
Transcript: ENSMUST00000029810
AA Change: M420V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: M420V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081978
AA Change: M420V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: M420V

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 benign
Transcript: ENSMUST00000167390
AA Change: M420V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: M420V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180196
AA Change: M420V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: M420V

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

0.0711

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,258,350 (GRCm39)	E481G	probably damaging	Het
Anks1b	C	T	10: 89,912,928 (GRCm39)	T351M	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Asph	A	C	4: 9,542,314 (GRCm39)		probably benign	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Cfap91	A	T	16: 38,131,400 (GRCm39)	I471N	possibly damaging	Het
Clca3a2	T	A	3: 144,519,679 (GRCm39)	T232S	probably benign	Het
Col1a2	G	A	6: 4,519,882 (GRCm39)		probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Cpd	T	C	11: 76,702,685 (GRCm39)	N561S	probably damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dnah10	T	C	5: 124,896,476 (GRCm39)		probably null	Het
Dsg2	T	C	18: 20,712,185 (GRCm39)	F107S	probably damaging	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fermt2	A	C	14: 45,741,948 (GRCm39)		probably null	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Grtp1	G	A	8: 13,239,755 (GRCm39)		probably benign	Het
Hecw1	G	T	13: 14,420,421 (GRCm39)	Q1001K	possibly damaging	Het
Hydin	T	C	8: 111,130,927 (GRCm39)	V606A	possibly damaging	Het
Krt33b	T	A	11: 99,914,835 (GRCm39)	N388I	probably benign	Het
Lipf	T	C	19: 33,950,438 (GRCm39)	Y277H	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Med17	T	C	9: 15,187,187 (GRCm39)	K196E	probably damaging	Het
Mmp25	T	A	17: 23,863,765 (GRCm39)	I22F	probably benign	Het
Nrg3	T	A	14: 38,092,965 (GRCm39)	N540I	possibly damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Or52ad1	T	C	7: 102,995,272 (GRCm39)	M288V	probably benign	Het
Or52r1c	T	A	7: 102,735,548 (GRCm39)	H269Q	probably benign	Het
Pcdh1	G	T	18: 38,322,815 (GRCm39)	A1006E	probably benign	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Plaa	G	A	4: 94,457,696 (GRCm39)	A758V	probably damaging	Het
Prl6a1	T	A	13: 27,499,303 (GRCm39)	W24R	probably damaging	Het
Ptk7	T	C	17: 46,883,476 (GRCm39)	H863R	probably damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Rhou	T	C	8: 124,387,880 (GRCm39)	I204T	possibly damaging	Het
Serpind1	G	T	16: 17,154,972 (GRCm39)	M266I	probably benign	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Slc2a2	T	G	3: 28,772,920 (GRCm39)	C238G	probably damaging	Het
Slc7a9	C	A	7: 35,163,167 (GRCm39)	Y457*	probably null	Het
Smpd3	C	T	8: 106,991,452 (GRCm39)	R367H	probably damaging	Het
Sntb2	T	C	8: 107,662,729 (GRCm39)	V99A	probably benign	Het
Specc1l	T	G	10: 75,094,965 (GRCm39)	I796R	probably damaging	Het
Stfa2l1	G	T	16: 35,980,316 (GRCm39)	V29F	probably damaging	Het
Synrg	T	C	11: 83,885,180 (GRCm39)	F455S	probably damaging	Het
Tap2	T	C	17: 34,431,328 (GRCm39)	V422A	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tcp10a	A	G	17: 7,597,173 (GRCm39)	Y110C	probably damaging	Het
Thoc1	T	A	18: 9,959,255 (GRCm39)	S43R	probably damaging	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Trpc3	G	A	3: 36,688,532 (GRCm39)	R836*	probably null	Het
Tsbp1	A	T	17: 34,640,836 (GRCm39)	H57L	possibly damaging	Het
Ube2u	T	C	4: 100,381,495 (GRCm39)	S185P	possibly damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vcp	A	G	4: 42,980,846 (GRCm39)	Y755H	probably damaging	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdfy3	A	T	5: 102,091,988 (GRCm39)	F450L	probably benign	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Xylt1	C	A	7: 117,234,011 (GRCm39)	Q513K	probably benign	Het
Zfp229	T	C	17: 21,964,484 (GRCm39)	F238S	probably damaging	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
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'- ACATTCTATCTGGCTGTGTGAC -3'
(R):5'- TGTTATTAAATGCCTTCCCGCG -3'

Sequencing Primer
(F):5'- GATGCCGCAGAATACTAGGATTCCTC -3'
(R):5'- AAATGCCTTCCCGCGTTGAC -3'

Posted On

2014-12-29