Mutagenetix > Incidental Mutations

Incidental Mutation 'R6158:Slc39a2'

501886

Institutional Source

Beutler Lab

Gene Symbol

Slc39a2

Ensembl Gene

ENSMUSG00000072572

Gene Name

solute carrier family 39 (zinc transporter), member 2

Synonyms

zip2, F730005G13Rik

MMRRC Submission

044305-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51892889-51896745 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 51894224 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047726] [ENSMUST00000047899] [ENSMUST00000161888] [ENSMUST00000164252] [ENSMUST00000164902] [ENSMUST00000165100] [ENSMUST00000165568] [ENSMUST00000168217]

Predicted Effect

probably null
Transcript: ENSMUST00000047726

SMART Domains

Protein: ENSMUSP00000038707
Gene: ENSMUSG00000072572

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 null
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

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

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

noncoding transcript
Transcript: ENSMUST00000166408

Predicted Effect

probably benign
Transcript: ENSMUST00000168217

SMART Domains

Protein: ENSMUSP00000130565
Gene: ENSMUSG00000004561

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
low complexity region	63	76	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169019

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Slc39a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Slc39a2	APN	14	51895136	nonsense	probably null
IGL02421:Slc39a2	APN	14	51893872	missense	probably benign	0.00
IGL02546:Slc39a2	APN	14	51895163	missense	probably benign	0.16
IGL02823:Slc39a2	APN	14	51895412	missense	probably damaging	1.00
R1126:Slc39a2	UTSW	14	51894145	missense	probably damaging	1.00
R4923:Slc39a2	UTSW	14	51895254	missense	probably damaging	1.00
R5106:Slc39a2	UTSW	14	51895531	makesense	probably null
R7094:Slc39a2	UTSW	14	51893689	unclassified	probably benign
R7324:Slc39a2	UTSW	14	51894193	missense	possibly damaging	0.74
R7340:Slc39a2	UTSW	14	51894203	missense	possibly damaging	0.87
R7578:Slc39a2	UTSW	14	51895416	missense	probably damaging	1.00
R7599:Slc39a2	UTSW	14	51895031	missense	probably benign	0.10
Z1177:Slc39a2	UTSW	14	51893895	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCACAGATGTTGAGTGCCATC -3'
(R):5'- TGCCCTTTCAGCCAACAAGC -3'

Sequencing Primer
(F):5'- CATTTACCTCACTGCTAACTGGAGAG -3'
(R):5'- GCCAACAAGCTTTCCTCAGATG -3'

Posted On

2017-12-04