Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01485:Slc30a10'

88730

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: 0.085) question?

Stock #

IGL01485

Quality Score

Status

Chromosome

Chromosomal Location

185187045-185200959 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 185187616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 119 (V119E)

Ref Sequence

ENSEMBL: ENSMUSP00000053181 (fasta)

Gene Model

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

AlphaFold

Q3UVU3

Predicted Effect

probably damaging
Transcript: ENSMUST00000061093
AA Change: V119E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: V119E

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,927,003 (GRCm39)	L888F	probably damaging	Het
Aftph	G	T	11: 20,642,507 (GRCm39)	A842E	probably damaging	Het
Ankrd13d	A	T	19: 4,323,592 (GRCm39)	M257K	probably benign	Het
Anks1	T	C	17: 28,270,558 (GRCm39)	F786L	probably damaging	Het
Cd2ap	A	T	17: 43,163,365 (GRCm39)	I20N	probably damaging	Het
Cdh20	C	T	1: 104,861,832 (GRCm39)	T4M	probably benign	Het
Dnah5	C	T	15: 28,331,872 (GRCm39)	R2153C	probably damaging	Het
Fap	G	A	2: 62,374,655 (GRCm39)	P248L	possibly damaging	Het
Hps4	T	A	5: 112,512,377 (GRCm39)		probably benign	Het
Igdcc4	C	A	9: 65,029,889 (GRCm39)	T313K	probably benign	Het
Klhl30	G	A	1: 91,281,761 (GRCm39)	V121I	probably damaging	Het
Ldb3	C	A	14: 34,264,519 (GRCm39)	E526D	probably damaging	Het
Ldc1	T	A	4: 130,109,218 (GRCm39)	Y274F	probably benign	Het
Lhfpl4	T	A	6: 113,171,082 (GRCm39)	I35F	probably benign	Het
Lpin1	A	G	12: 16,612,358 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,502,860 (GRCm39)	C436S	probably benign	Het
Nek5	C	A	8: 22,573,385 (GRCm39)	A524S	probably benign	Het
Nkx2-3	C	T	19: 43,601,094 (GRCm39)	T52M	possibly damaging	Het
Or1e33	A	G	11: 73,738,036 (GRCm39)	I305T	probably benign	Het
Or2w2	A	T	13: 21,758,627 (GRCm39)		probably null	Het
Or8b56	G	A	9: 38,739,895 (GRCm39)	V303I	possibly damaging	Het
Pappa	T	C	4: 65,107,536 (GRCm39)	V649A	probably damaging	Het
Parp4	T	A	14: 56,859,661 (GRCm39)	Y920N	possibly damaging	Het
Pdgfra	G	A	5: 75,324,313 (GRCm39)	S56N	probably benign	Het
Pigg	T	C	5: 108,484,067 (GRCm39)	V438A	possibly damaging	Het
Ptn	A	T	6: 36,720,298 (GRCm39)	C85S	probably damaging	Het
Sh3rf1	A	C	8: 61,782,365 (GRCm39)	E169A	possibly damaging	Het
Speg	A	G	1: 75,364,471 (GRCm39)	E178G	probably damaging	Het
Sspo	A	G	6: 48,455,665 (GRCm39)	Y3105C	probably damaging	Het
Supt3	A	G	17: 45,430,045 (GRCm39)	E366G	possibly damaging	Het
Top2a	A	T	11: 98,901,856 (GRCm39)	L458Q	probably damaging	Het
Ttc21b	G	A	2: 66,082,234 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,219,429 (GRCm39)	F542L	probably benign	Het
Vmn1r234	T	A	17: 21,449,171 (GRCm39)	D28E	possibly damaging	Het

Other mutations in Slc30a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01779:Slc30a10	APN	1	185,196,376 (GRCm39)	missense	possibly damaging	0.94
IGL01906:Slc30a10	APN	1	185,188,593 (GRCm39)	nonsense	probably null
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

2013-11-18