Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02175:Slc39a10'

283075

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc39a10

Ensembl Gene

ENSMUSG00000025986

Gene Name

solute carrier family 39 (zinc transporter), member 10

Synonyms

2900042E17Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

IGL02175

Quality Score

Status

Chromosome

Chromosomal Location

46807544-46892852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46818128 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 696 (A696V)

Ref Sequence

ENSEMBL: ENSMUSP00000027131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027131]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027131
AA Change: A696V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: A696V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	122	134	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
low complexity region	224	244	N/A	INTRINSIC
Pfam:Zip	406	607	9.9e-44	PFAM
Pfam:Zip	588	821	2.5e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141226

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. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice with conditional loss of function display defects in cellular proliferation and differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 86,535,013		probably null	Het
Adgrf5	A	G	17: 43,451,010	I1199V	probably damaging	Het
Atm	T	A	9: 53,480,665	H1808L	probably damaging	Het
Cadps	C	T	14: 12,467,092	V942M	probably damaging	Het
Capns1	T	C	7: 30,190,532	D116G	probably benign	Het
Ccdc110	T	G	8: 45,940,623	M124R	probably benign	Het
Cdh23	T	C	10: 60,331,308	N1855S	possibly damaging	Het
Dstyk	T	A	1: 132,449,391	L245*	probably null	Het
Dync2h1	A	G	9: 7,111,548	Y289H	possibly damaging	Het
Efcab6	G	A	15: 83,896,100	A1044V	probably damaging	Het
Egr1	T	C	18: 34,863,055	S297P	probably benign	Het
Ercc6l2	T	C	13: 63,869,190		probably benign	Het
Frem2	C	T	3: 53,655,599	A496T	possibly damaging	Het
Hook2	T	A	8: 84,991,402	W53R	probably damaging	Het
Med19	T	A	2: 84,678,663		probably null	Het
Mgrn1	A	G	16: 4,920,368	N262S	probably benign	Het
Nbas	T	G	12: 13,566,259		probably null	Het
Ndc80	A	C	17: 71,511,419	M314R	probably benign	Het
Nelfcd	A	T	2: 174,420,382	T89S	probably benign	Het
Nlrp4a	A	T	7: 26,475,097	E969D	probably damaging	Het
Ntrk3	A	G	7: 78,247,228	V687A	probably damaging	Het
Oc90	A	C	15: 65,883,825	S224R	possibly damaging	Het
Olfr1241	T	C	2: 89,482,282	I284M	possibly damaging	Het
Plxnb1	C	T	9: 109,100,846	H257Y	possibly damaging	Het
Prpf3	A	G	3: 95,834,107	V579A	probably damaging	Het
Rarres1	T	C	3: 67,495,756	N104S	probably benign	Het
Serpina1d	T	C	12: 103,765,696		probably null	Het
Sik2	G	A	9: 50,895,609	Q834*	probably null	Het
Snx13	T	A	12: 35,132,062	N703K	possibly damaging	Het
Spaca9	T	C	2: 28,695,924	I43V	probably benign	Het
Tor1aip2	T	C	1: 156,065,006	S353P	probably damaging	Het
Trmt1l	T	C	1: 151,448,484	S361P	probably benign	Het
Trpm2	T	C	10: 77,937,907	H558R	probably benign	Het
Vmn1r75	T	C	7: 11,880,847	C127R	probably damaging	Het
Zfp879	A	T	11: 50,837,916	Y84N	probably benign	Het

Other mutations in Slc39a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00543:Slc39a10	APN	1	46819057	splice site	probably benign
IGL01628:Slc39a10	APN	1	46835523	missense	probably benign	0.23
IGL01939:Slc39a10	APN	1	46832735	missense	probably benign	0.07
IGL02068:Slc39a10	APN	1	46819439	splice site	probably benign
IGL02093:Slc39a10	APN	1	46835209	missense	probably damaging	1.00
IGL02101:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02122:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02125:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02171:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02186:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02699:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
IGL02700:Slc39a10	APN	1	46818128	missense	probably damaging	1.00
R0217:Slc39a10	UTSW	1	46835540	missense	probably benign
R0704:Slc39a10	UTSW	1	46835861	missense	possibly damaging	0.76
R0782:Slc39a10	UTSW	1	46835996	missense	probably damaging	0.97
R1527:Slc39a10	UTSW	1	46819262	missense	probably benign
R1566:Slc39a10	UTSW	1	46836085	missense	possibly damaging	0.90
R1568:Slc39a10	UTSW	1	46826215	missense	probably benign	0.00
R1664:Slc39a10	UTSW	1	46826109	missense	probably damaging	1.00
R1830:Slc39a10	UTSW	1	46836070	missense	probably damaging	1.00
R1954:Slc39a10	UTSW	1	46835174	missense	possibly damaging	0.50
R2327:Slc39a10	UTSW	1	46835996	missense	probably damaging	0.97
R3434:Slc39a10	UTSW	1	46835717	missense	probably benign
R3761:Slc39a10	UTSW	1	46812125	missense	possibly damaging	0.88
R4035:Slc39a10	UTSW	1	46812074	missense	probably damaging	1.00
R4419:Slc39a10	UTSW	1	46810066	missense	probably benign	0.42
R4675:Slc39a10	UTSW	1	46817984	intron	probably benign
R4689:Slc39a10	UTSW	1	46836013	missense	probably benign	0.00
R5310:Slc39a10	UTSW	1	46836125	missense	probably damaging	1.00
R6073:Slc39a10	UTSW	1	46832612	missense	possibly damaging	0.68
R6161:Slc39a10	UTSW	1	46827407	missense	probably damaging	1.00
R6199:Slc39a10	UTSW	1	46835833	missense	probably damaging	1.00
R6562:Slc39a10	UTSW	1	46835564	missense	probably benign	0.02
R7087:Slc39a10	UTSW	1	46835720	missense	probably damaging	1.00
R7222:Slc39a10	UTSW	1	46819292	missense	possibly damaging	0.82
R7286:Slc39a10	UTSW	1	46810070	missense	probably damaging	0.97
R7568:Slc39a10	UTSW	1	46835130	missense	probably benign	0.14
R7891:Slc39a10	UTSW	1	46812168	missense	probably damaging	1.00
R7918:Slc39a10	UTSW	1	46835752	missense	possibly damaging	0.88
RF020:Slc39a10	UTSW	1	46810015	missense	probably damaging	0.99

Posted On

2015-04-16