Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01315:Slc39a2'

73819

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc39a2

Ensembl Gene

ENSMUSG00000072572

Gene Name

solute carrier family 39 (zinc transporter), member 2

Synonyms

zip2, F730005G13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

IGL01315

Quality Score

Status

Chromosome

Chromosomal Location

52130539-52134202 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 52132593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 179 (E179*)

Ref Sequence

ENSEMBL: ENSMUSP00000038707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000161888] [ENSMUST00000164252] [ENSMUST00000164902] [ENSMUST00000165568] [ENSMUST00000165100]

AlphaFold

G3X943

Predicted Effect

probably null
Transcript: ENSMUST00000047726
AA Change: E179*

SMART Domains

Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572
AA Change: E179*

Domain	Start	End	E-Value	Type
Pfam:Zip	5	306	1.1e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000047899

SMART Domains

Protein: ENSMUSP00000047720
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	442	8e-65	PFAM
Pfam:Methyltransf_11	191	293	5.9e-7	PFAM
low complexity region	446	460	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160668

Predicted Effect

probably benign
Transcript: ENSMUST00000161888

SMART Domains

Protein: ENSMUSP00000124399
Gene: ENSMUSG00000072572

Domain	Start	End	E-Value	Type
Pfam:Zip	5	163	8.1e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163603

Predicted Effect

probably benign
Transcript: ENSMUST00000164252

SMART Domains

Protein: ENSMUSP00000130038
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164902

SMART Domains

Protein: ENSMUSP00000130200
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	467	1.7e-61	PFAM
Pfam:Methyltransf_11	191	294	3.6e-6	PFAM
low complexity region	471	485	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168413

Predicted Effect

probably benign
Transcript: ENSMUST00000165568

SMART Domains

Protein: ENSMUSP00000129973
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
Pfam:Rsm22	100	269	1.5e-37	PFAM
Pfam:Methyltransf_11	138	240	2.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165100

SMART Domains

Protein: ENSMUSP00000132354
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC
Pfam:Rsm22	153	235	2.1e-19	PFAM

Coding Region Coverage

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 ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a null allele are overtly normal when fed a zinc-replete diet but show increased sensitivity to the effects of maternal dietary zinc deficiency during pregnancy. Resulting embryos are often growth retarded with craniofacial and limb defects, and show altered iron and calcium levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl5	T	C	5: 31,050,578 (GRCm39)	S409P	probably benign	Het
Ankdd1a	T	A	9: 65,415,984 (GRCm39)	H187L	probably damaging	Het
Ap2a1	A	T	7: 44,565,713 (GRCm39)	D51E	possibly damaging	Het
Ccn3	T	C	15: 54,612,656 (GRCm39)	S222P	probably damaging	Het
Cog5	T	A	12: 31,810,985 (GRCm39)		probably benign	Het
Eif3h	T	C	15: 51,705,881 (GRCm39)	D91G	probably damaging	Het
Ell2	A	G	13: 75,910,351 (GRCm39)		probably benign	Het
Epha4	A	G	1: 77,375,194 (GRCm39)	V551A	probably benign	Het
Gpc2	A	G	5: 138,274,301 (GRCm39)	S354P	probably benign	Het
Gramd1a	A	G	7: 30,841,993 (GRCm39)	F140L	probably damaging	Het
Hnmt	A	G	2: 23,909,180 (GRCm39)	Y78H	probably benign	Het
Ighe	T	A	12: 113,234,972 (GRCm39)	H396L	unknown	Het
Krt87	A	G	15: 101,384,848 (GRCm39)		probably benign	Het
Mgat5b	T	C	11: 116,814,215 (GRCm39)	S40P	probably damaging	Het
Mov10	A	G	3: 104,703,261 (GRCm39)	V876A	probably damaging	Het
Nbeal1	T	C	1: 60,320,500 (GRCm39)	V2031A	probably damaging	Het
Ntm	T	A	9: 28,925,480 (GRCm39)	S26C	probably damaging	Het
Pcsk5	G	A	19: 17,429,322 (GRCm39)	T1552I	probably damaging	Het
Pex1	A	T	5: 3,659,975 (GRCm39)	D453V	probably damaging	Het
Pkd2l1	C	T	19: 44,180,635 (GRCm39)	D27N	probably benign	Het
Plppr5	G	T	3: 117,456,175 (GRCm39)	C232F	probably damaging	Het
Slc8a3	A	G	12: 81,361,169 (GRCm39)	V550A	probably damaging	Het
Smc5	T	A	19: 23,208,968 (GRCm39)	T626S	probably benign	Het
Tars1	A	C	15: 11,389,820 (GRCm39)	Y363*	probably null	Het
Unc79	T	C	12: 103,054,780 (GRCm39)	I906T	possibly damaging	Het
Ush2a	C	T	1: 188,365,811 (GRCm39)	P2222S	possibly damaging	Het
Wdr31	A	C	4: 62,374,074 (GRCm39)	V306G	probably damaging	Het
Zdhhc1	C	A	8: 106,199,630 (GRCm39)	R389S	probably benign	Het

Other mutations in Slc39a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02421:Slc39a2	APN	14	52,131,329 (GRCm39)	missense	probably benign	0.00
IGL02546:Slc39a2	APN	14	52,132,620 (GRCm39)	missense	probably benign	0.16
IGL02823:Slc39a2	APN	14	52,132,869 (GRCm39)	missense	probably damaging	1.00
R1126:Slc39a2	UTSW	14	52,131,602 (GRCm39)	missense	probably damaging	1.00
R4923:Slc39a2	UTSW	14	52,132,711 (GRCm39)	missense	probably damaging	1.00
R5106:Slc39a2	UTSW	14	52,132,988 (GRCm39)	makesense	probably null
R6158:Slc39a2	UTSW	14	52,131,681 (GRCm39)	splice site	probably null
R7094:Slc39a2	UTSW	14	52,131,146 (GRCm39)	unclassified	probably benign
R7324:Slc39a2	UTSW	14	52,131,650 (GRCm39)	missense	possibly damaging	0.74
R7340:Slc39a2	UTSW	14	52,131,660 (GRCm39)	missense	possibly damaging	0.87
R7578:Slc39a2	UTSW	14	52,132,873 (GRCm39)	missense	probably damaging	1.00
R7599:Slc39a2	UTSW	14	52,132,488 (GRCm39)	missense	probably benign	0.10
Z1177:Slc39a2	UTSW	14	52,131,352 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07