Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00536:Slc39a12'

14094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc39a12

Ensembl Gene

ENSMUSG00000036949

Gene Name

solute carrier family 39 (zinc transporter), member 12

Synonyms

LOC277468

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL00536

Quality Score

Status

Chromosome

Chromosomal Location

14393127-14499788 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 14400879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]

AlphaFold

Q5FWH7

Predicted Effect

probably benign
Transcript: ENSMUST00000082290

SMART Domains

Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Zip	364	681	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114731

SMART Domains

Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
Pfam:Zip	382	511	2.5e-17	PFAM
Pfam:Zip	492	661	1.5e-41	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	C	T	5: 99,370,242 (GRCm39)	C506Y	probably damaging	Het
Bahcc1	A	G	11: 120,175,871 (GRCm39)	E1899G	probably damaging	Het
Celsr3	C	T	9: 108,706,391 (GRCm39)	T958I	probably benign	Het
Dock11	T	C	X: 35,258,087 (GRCm39)	V644A	probably benign	Het
Dyrk2	C	A	10: 118,696,097 (GRCm39)	R387L	probably damaging	Het
Fam234b	A	G	6: 135,202,202 (GRCm39)	Y308C	probably damaging	Het
Ik	A	T	18: 36,889,921 (GRCm39)	R517*	probably null	Het
Lipo4	T	A	19: 33,493,086 (GRCm39)	Y49F	probably damaging	Het
Pura	G	A	18: 36,420,943 (GRCm39)	M243I	probably benign	Het
Rsph4a	T	C	10: 33,787,652 (GRCm39)		probably benign	Het
Scaf4	G	T	16: 90,054,250 (GRCm39)	P213Q	unknown	Het
Tex11	C	T	X: 100,076,165 (GRCm39)	C156Y	probably null	Het
Vdac2	G	A	14: 21,888,511 (GRCm39)	G138S	probably benign	Het
Zan	C	T	5: 137,444,944 (GRCm39)	V1772I	unknown	Het
Zscan2	C	T	7: 80,525,164 (GRCm39)	T295M	probably damaging	Het

Other mutations in Slc39a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01597:Slc39a12	APN	2	14,439,120 (GRCm39)	missense	possibly damaging	0.95
IGL02516:Slc39a12	APN	2	14,405,146 (GRCm39)	missense	probably damaging	1.00
greenshoot	UTSW	2	14,425,029 (GRCm39)	missense	probably damaging	1.00
sapling	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
Seedling	UTSW	2	14,439,174 (GRCm39)	splice site	probably benign
stripling	UTSW	2	14,405,142 (GRCm39)	missense	probably benign	0.00
R0068:Slc39a12	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
R0068:Slc39a12	UTSW	2	14,440,489 (GRCm39)	missense	probably benign
R0453:Slc39a12	UTSW	2	14,440,492 (GRCm39)	missense	probably benign	0.04
R0533:Slc39a12	UTSW	2	14,405,142 (GRCm39)	missense	probably benign	0.00
R0718:Slc39a12	UTSW	2	14,412,237 (GRCm39)	splice site	probably benign
R1647:Slc39a12	UTSW	2	14,456,803 (GRCm39)	missense	probably benign	0.24
R1648:Slc39a12	UTSW	2	14,456,803 (GRCm39)	missense	probably benign	0.24
R1879:Slc39a12	UTSW	2	14,448,868 (GRCm39)	missense	probably benign
R1993:Slc39a12	UTSW	2	14,439,030 (GRCm39)	missense	probably damaging	0.98
R2429:Slc39a12	UTSW	2	14,409,897 (GRCm39)	missense	probably benign	0.06
R3746:Slc39a12	UTSW	2	14,400,878 (GRCm39)	splice site	probably benign
R3934:Slc39a12	UTSW	2	14,439,174 (GRCm39)	splice site	probably benign
R3941:Slc39a12	UTSW	2	14,400,992 (GRCm39)	missense	possibly damaging	0.95
R4008:Slc39a12	UTSW	2	14,456,928 (GRCm39)	missense	probably damaging	1.00
R4478:Slc39a12	UTSW	2	14,424,990 (GRCm39)	nonsense	probably null
R4622:Slc39a12	UTSW	2	14,405,136 (GRCm39)	missense	probably benign	0.11
R4760:Slc39a12	UTSW	2	14,405,134 (GRCm39)	missense	probably benign	0.14
R5477:Slc39a12	UTSW	2	14,394,193 (GRCm39)	missense	possibly damaging	0.46
R5566:Slc39a12	UTSW	2	14,412,414 (GRCm39)	missense	possibly damaging	0.80
R5725:Slc39a12	UTSW	2	14,394,075 (GRCm39)	start gained	probably benign
R5798:Slc39a12	UTSW	2	14,454,637 (GRCm39)	missense	probably damaging	1.00
R6074:Slc39a12	UTSW	2	14,412,290 (GRCm39)	nonsense	probably null
R6169:Slc39a12	UTSW	2	14,405,044 (GRCm39)	missense	possibly damaging	0.64
R6180:Slc39a12	UTSW	2	14,400,938 (GRCm39)	missense	probably benign	0.38
R6802:Slc39a12	UTSW	2	14,424,896 (GRCm39)	missense	probably benign	0.28
R6847:Slc39a12	UTSW	2	14,454,728 (GRCm39)	missense	probably damaging	1.00
R6899:Slc39a12	UTSW	2	14,394,352 (GRCm39)	missense	probably damaging	1.00
R6931:Slc39a12	UTSW	2	14,394,186 (GRCm39)	missense	probably benign	0.04
R7131:Slc39a12	UTSW	2	14,454,614 (GRCm39)	missense	probably damaging	1.00
R7343:Slc39a12	UTSW	2	14,456,811 (GRCm39)	missense	probably damaging	1.00
R7525:Slc39a12	UTSW	2	14,499,272 (GRCm39)	missense	probably benign	0.01
R7568:Slc39a12	UTSW	2	14,404,939 (GRCm39)	splice site	probably null
R7684:Slc39a12	UTSW	2	14,454,670 (GRCm39)	missense	probably damaging	0.99
R7761:Slc39a12	UTSW	2	14,439,141 (GRCm39)	missense	probably benign	0.01
R7785:Slc39a12	UTSW	2	14,425,029 (GRCm39)	missense	probably damaging	1.00
R8725:Slc39a12	UTSW	2	14,454,670 (GRCm39)	missense	probably damaging	0.99
R9199:Slc39a12	UTSW	2	14,394,321 (GRCm39)	missense	possibly damaging	0.69
R9280:Slc39a12	UTSW	2	14,401,003 (GRCm39)	missense	probably benign	0.04
R9571:Slc39a12	UTSW	2	14,412,380 (GRCm39)	missense	probably benign

Posted On

2012-12-06