Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01939:Slc39a10'

180809

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: 0.681) question?

Stock #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

46807544-46892852 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46832735 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 348 (H348L)

Ref Sequence

ENSEMBL: ENSMUSP00000027131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027131] [ENSMUST00000185520] [ENSMUST00000186852]

Predicted Effect

probably benign
Transcript: ENSMUST00000027131
AA Change: H348L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000027131
Gene: ENSMUSG00000025986
AA Change: H348L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185520

SMART Domains

Protein: ENSMUSP00000140570
Gene: ENSMUSG00000025986

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186852

SMART Domains

Protein: ENSMUSP00000140176
Gene: ENSMUSG00000025986

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	122	134	N/A	INTRINSIC

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,992,132	D22Y	probably damaging	Het
Ak7	T	C	12: 105,734,924	V242A	probably benign	Het
Cacna1b	T	C	2: 24,661,757	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,971,569	H267L	probably benign	Het
Ces1b	C	T	8: 93,079,431	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,725,004	D355V	probably damaging	Het
Col24a1	T	C	3: 145,315,244	S459P	probably damaging	Het
Crygd	T	C	1: 65,062,026	T137A	probably benign	Het
Dctn4	T	A	18: 60,544,130	M174K	probably benign	Het
Evi5	A	G	5: 107,816,924		probably benign	Het
Fat2	T	G	11: 55,283,980	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,446,299	E317V	probably damaging	Het
Foxf2	G	T	13: 31,626,714	S212I	probably damaging	Het
Gm21759	T	A	5: 8,180,685		probably benign	Het
Gm5414	A	G	15: 101,625,670		probably benign	Het
Gm7275	T	C	16: 48,073,583		noncoding transcript	Het
Hspa9	T	C	18: 34,938,708	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,462,008	I515V	possibly damaging	Het
Ins1	G	T	19: 52,264,735	A38S	probably damaging	Het
Klhl31	A	G	9: 77,655,206	N418D	probably benign	Het
Magi3	T	C	3: 104,054,462	K417E	probably damaging	Het
Msh4	A	G	3: 153,857,589	Y823H	probably damaging	Het
Myo6	T	A	9: 80,260,818	D421E	probably damaging	Het
Myom3	T	C	4: 135,765,589	S150P	possibly damaging	Het
Nectin1	C	T	9: 43,792,574		probably benign	Het
Nkx1-2	A	T	7: 132,599,474	I18N	probably damaging	Het
Olfr1006	T	C	2: 85,674,941	D70G	probably damaging	Het
Olfr1193	A	G	2: 88,678,733	T286A	probably damaging	Het
Olfr1467	A	T	19: 13,365,443	I272F	probably benign	Het
Olfr952	A	C	9: 39,426,338	H244Q	probably damaging	Het
Pde8b	T	C	13: 95,095,724	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,515,139	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,689,161	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,063,163		probably benign	Het
Rabggtb	A	G	3: 153,912,013	V16A	probably damaging	Het
Rangap1	A	T	15: 81,720,663	C82S	probably damaging	Het
Rasal2	T	C	1: 157,175,910	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,974,836	E449V	probably damaging	Het
Rrp12	A	T	19: 41,870,895	H1143Q	probably damaging	Het
Scap	T	C	9: 110,379,481	I530T	probably benign	Het
Sel1l	T	A	12: 91,816,247	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,039,665	M280T	probably damaging	Het
Slc7a2	T	C	8: 40,914,083	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,669,177	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,508,437		probably benign	Het
Tfb2m	A	G	1: 179,537,697		probably null	Het
Tpo	T	C	12: 30,084,647	T771A	possibly damaging	Het
Tpr	G	A	1: 150,413,745	R609H	possibly damaging	Het
Usp34	T	A	11: 23,345,141		probably benign	Het
Vmn1r193	G	T	13: 22,219,723	S33*	probably null	Het
Vmn2r104	A	C	17: 20,029,925	S695A	probably damaging	Het
Vmn2r24	A	G	6: 123,787,445	D427G	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp362	A	G	4: 128,787,053	S160P	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
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
IGL02175: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
R7974:Slc39a10	UTSW	1	46812168	missense	probably damaging	1.00
RF020:Slc39a10	UTSW	1	46810015	missense	probably damaging	0.99

Posted On

2014-05-07