Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01906:Slc30a10'

179673

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc30a10

Ensembl Gene

ENSMUSG00000026614

Gene Name

solute carrier family 30, member 10

Synonyms

E130106K10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL01906

Quality Score

Status

Chromosome

Chromosomal Location

185187045-185200959 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 185188593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 221 (K221*)

Ref Sequence

ENSEMBL: ENSMUSP00000053181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061093]

AlphaFold

Q3UVU3

Predicted Effect

probably null
Transcript: ENSMUST00000061093
AA Change: K221*

SMART Domains

Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: K221*

Domain	Start	End	E-Value	Type
Pfam:Cation_efflux	11	299	2e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180623

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit post-weaning growth defects, increased manganese levels in the brain, blood, liver and thyroid gland, severe hypothyroidism and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,166,225 (GRCm39)	Q24L	probably damaging	Het
Adam1b	A	T	5: 121,639,538 (GRCm39)	N502K	probably benign	Het
Adam6a	T	A	12: 113,507,951 (GRCm39)	M108K	probably benign	Het
Akr1b10	A	G	6: 34,364,746 (GRCm39)	K69R	probably benign	Het
Ap5b1	T	A	19: 5,621,007 (GRCm39)	L809*	probably null	Het
Asxl3	A	T	18: 22,655,338 (GRCm39)	H1116L	probably benign	Het
Birc6	A	G	17: 74,945,353 (GRCm39)	T2794A	probably damaging	Het
Bst1	T	C	5: 43,994,861 (GRCm39)	F248L	probably damaging	Het
Cep120	A	T	18: 53,847,984 (GRCm39)	V625E	probably benign	Het
Cgnl1	T	C	9: 71,631,849 (GRCm39)	M501V	probably benign	Het
Col19a1	T	A	1: 24,356,510 (GRCm39)	D661V	probably damaging	Het
Copb2	A	T	9: 98,462,383 (GRCm39)	E456V	probably benign	Het
Csk	A	G	9: 57,536,304 (GRCm39)	I201T	probably damaging	Het
Cttnbp2	G	T	6: 18,378,375 (GRCm39)	S977*	probably null	Het
Ddr2	A	G	1: 169,809,668 (GRCm39)	W770R	probably damaging	Het
Dnah7b	T	C	1: 46,214,613 (GRCm39)	I1126T	probably damaging	Het
Ephb4	A	T	5: 137,359,456 (GRCm39)	E342V	probably damaging	Het
Erc2	T	A	14: 27,863,263 (GRCm39)	L496Q	probably damaging	Het
Faim2	G	A	15: 99,412,314 (GRCm39)	T140I	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Haus3	A	C	5: 34,325,667 (GRCm39)		probably benign	Het
Hmcn1	T	C	1: 150,543,638 (GRCm39)	T2846A	probably benign	Het
Mto1	T	C	9: 78,372,213 (GRCm39)	V561A	probably benign	Het
Myb	T	C	10: 21,028,533 (GRCm39)	Y110C	probably damaging	Het
Or4k36	T	C	2: 111,146,246 (GRCm39)	C141R	probably damaging	Het
Plcd3	T	C	11: 102,967,682 (GRCm39)	Y420C	probably damaging	Het
Plk4	G	T	3: 40,764,816 (GRCm39)	M603I	probably null	Het
Scgb1b24	T	C	7: 33,443,538 (GRCm39)	C66R	probably damaging	Het
Sec23a	T	C	12: 59,053,830 (GRCm39)	Y56C	probably damaging	Het
Setd1b	C	A	5: 123,295,730 (GRCm39)	D1099E	unknown	Het
Sh2d7	G	A	9: 54,446,750 (GRCm39)		probably benign	Het
Slc5a1	T	C	5: 33,311,997 (GRCm39)	L463P	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Strc	T	C	2: 121,208,115 (GRCm39)	T419A	probably benign	Het
Styxl2	A	C	1: 165,927,092 (GRCm39)	L840R	probably damaging	Het
Ttc39a	T	C	4: 109,278,591 (GRCm39)	M82T	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vps13b	T	C	15: 35,639,993 (GRCm39)		probably benign	Het

Other mutations in Slc30a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Slc30a10	APN	1	185,187,616 (GRCm39)	missense	probably damaging	1.00
IGL01779:Slc30a10	APN	1	185,196,376 (GRCm39)	missense	possibly damaging	0.94
IGL02024:Slc30a10	APN	1	185,187,438 (GRCm39)	missense	possibly damaging	0.94
R0111:Slc30a10	UTSW	1	185,187,744 (GRCm39)	missense	probably benign
R0133:Slc30a10	UTSW	1	185,187,370 (GRCm39)	missense	probably damaging	1.00
R1886:Slc30a10	UTSW	1	185,195,061 (GRCm39)	missense	probably damaging	1.00
R3915:Slc30a10	UTSW	1	185,187,333 (GRCm39)	nonsense	probably null
R5597:Slc30a10	UTSW	1	185,194,897 (GRCm39)	missense	probably damaging	1.00
R6175:Slc30a10	UTSW	1	185,187,508 (GRCm39)	missense	probably damaging	1.00
R6669:Slc30a10	UTSW	1	185,196,625 (GRCm39)	missense	probably benign
R8108:Slc30a10	UTSW	1	185,196,351 (GRCm39)	missense	possibly damaging	0.90
R8345:Slc30a10	UTSW	1	185,187,664 (GRCm39)	missense	probably benign	0.19
R9193:Slc30a10	UTSW	1	185,195,034 (GRCm39)	missense	probably damaging	1.00
R9227:Slc30a10	UTSW	1	185,187,391 (GRCm39)	missense	probably damaging	0.99
R9228:Slc30a10	UTSW	1	185,187,391 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07