Mutagenetix > Incidental Mutation

Incidental Mutation 'R7094:Slc39a2'

550377

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

045187-MU

Accession Numbers

Essential gene?

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

Stock #

R7094 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52130539-52134202 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to T at 52131146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130565 (fasta)

Gene Model

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

AlphaFold

G3X943

Predicted Effect

probably benign
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

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,248,610 (GRCm39)	I2786F	probably damaging	Het
Actl6a	A	T	3: 32,760,487 (GRCm39)		probably benign	Het
Actn2	A	G	13: 12,324,543 (GRCm39)	V100A	probably damaging	Het
Arfgef3	G	T	10: 18,522,187 (GRCm39)	A613E	probably damaging	Het
Atf6b	G	A	17: 34,872,790 (GRCm39)		probably null	Het
Bub1	T	A	2: 127,663,681 (GRCm39)	E240V	probably null	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccdc141	C	A	2: 76,871,797 (GRCm39)	R829L	possibly damaging	Het
Ccdc85c	GCCGCCGCCGCCAGCGCCCCCCGCCGCCGCCAGCGCC	GCCGCCGCCGCCAGCGCC	12: 108,240,877 (GRCm39)		probably null	Het
Cd209g	T	C	8: 4,186,790 (GRCm39)	F112L	possibly damaging	Het
Cebpe	C	T	14: 54,948,060 (GRCm39)	R261H	probably damaging	Het
Cfap100	T	C	6: 90,390,436 (GRCm39)	E68G		Het
Chd9	A	G	8: 91,716,189 (GRCm39)	N921S	unknown	Het
Chil6	T	C	3: 106,311,486 (GRCm39)	N98S	probably damaging	Het
Clip1	T	C	5: 123,761,333 (GRCm39)	K734E	probably benign	Het
Cracd	C	T	5: 77,006,879 (GRCm39)	P1080L	unknown	Het
Cyp11b2	A	G	15: 74,725,507 (GRCm39)	F204S	possibly damaging	Het
Dnah5	A	G	15: 28,453,482 (GRCm39)	T4418A	probably damaging	Het
Dysf	T	C	6: 84,077,184 (GRCm39)	V649A	probably benign	Het
Ergic3	G	A	2: 155,858,683 (GRCm39)	V270M	possibly damaging	Het
Eva1a	C	T	6: 82,069,024 (GRCm39)	T117I	probably damaging	Het
Fat4	G	A	3: 38,944,023 (GRCm39)	G972D	probably damaging	Het
Gm14412	A	T	2: 177,009,138 (GRCm39)	N39K	probably damaging	Het
Gm5565	T	C	5: 146,095,084 (GRCm39)	T221A	probably benign	Het
Gnptab	T	G	10: 88,215,366 (GRCm39)	V29G	possibly damaging	Het
Grem2	T	C	1: 174,664,555 (GRCm39)	Y98C	probably damaging	Het
Grik2	A	T	10: 49,232,012 (GRCm39)	I506N	possibly damaging	Het
Has2	T	A	15: 56,545,017 (GRCm39)	Y195F	probably damaging	Het
Kics2	A	G	10: 121,576,098 (GRCm39)	Y73C	possibly damaging	Het
Lars2	T	C	9: 123,288,650 (GRCm39)	L832P	probably damaging	Het
Lipo5	T	A	19: 33,446,249 (GRCm39)	E49D	probably damaging	Het
Macc1	T	A	12: 119,414,126 (GRCm39)	Y767*	probably null	Het
Map2	G	T	1: 66,451,886 (GRCm39)	E259*	probably null	Het
Mcm9	T	C	10: 53,496,253 (GRCm39)	D310G	probably damaging	Het
Mink1	C	A	11: 70,500,901 (GRCm39)		probably null	Het
Mtrr	T	C	13: 68,727,803 (GRCm39)	T48A	possibly damaging	Het
Nrsn1	A	T	13: 25,437,724 (GRCm39)	I68N	possibly damaging	Het
Or1ab2	A	T	8: 72,863,347 (GRCm39)		probably benign	Het
Or4a71	A	T	2: 89,357,902 (GRCm39)	I284K	probably damaging	Het
Or51f23b	A	G	7: 102,402,305 (GRCm39)	M277T	probably benign	Het
Or5p60	G	T	7: 107,723,840 (GRCm39)	T210N	probably benign	Het
Or8k36-ps1	T	C	2: 86,437,672 (GRCm39)	N81S	unknown	Het
Pcdh17	A	G	14: 84,684,835 (GRCm39)	D434G	probably damaging	Het
Rnf213	T	A	11: 119,328,430 (GRCm39)		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sez6l2	A	G	7: 126,552,096 (GRCm39)	E121G	probably damaging	Het
Slc35e4	T	C	11: 3,863,118 (GRCm39)	S24G	probably benign	Het
Slitrk5	C	T	14: 111,918,268 (GRCm39)	P631S	probably benign	Het
Taf2	A	G	15: 54,923,482 (GRCm39)	V265A	probably benign	Het
Tas2r106	T	C	6: 131,655,542 (GRCm39)	N103S	probably benign	Het
Tgm1	T	C	14: 55,942,300 (GRCm39)	T684A	possibly damaging	Het
Tgm7	C	T	2: 120,929,489 (GRCm39)	G262S	probably damaging	Het
Tpp2	T	A	1: 44,008,148 (GRCm39)	S451T	probably damaging	Het
Trim15	T	C	17: 37,173,788 (GRCm39)	Y240C	probably benign	Het
Trio	A	T	15: 27,891,534 (GRCm39)	C465S	unknown	Het
Ttc22	G	A	4: 106,493,104 (GRCm39)	W250*	probably null	Het
Upb1	C	A	10: 75,274,042 (GRCm39)	F356L	probably damaging	Het
Vmn2r99	T	A	17: 19,599,573 (GRCm39)	M419K	probably benign	Het
Vstm2a	G	A	11: 16,207,990 (GRCm39)		probably benign	Het
Zfp820	T	C	17: 22,038,246 (GRCm39)	T361A	probably benign	Het

Other mutations in Slc39a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Slc39a2	APN	14	52,132,593 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ACTTCTCTGAGCTGGACCTG -3'
(R):5'- GTACCTGTAGCTGCATCCATC -3'

Sequencing Primer
(F):5'- ACCTGGCAGGGAGTCTG -3'
(R):5'- CTGGAACCATTTCACGTAGATGG -3'

Posted On

2019-05-15