Mutagenetix > Incidental Mutations

Incidental Mutation 'R0111:Slc30a10'

20433

Institutional Source

Beutler Lab

Gene Symbol

Slc30a10

Ensembl Gene

ENSMUSG00000026614

Gene Name

solute carrier family 30, member 10

Synonyms

MMRRC Submission

038397-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0111 (G1)

Quality Score

133

Status

Validated (trace)

Chromosome

Chromosomal Location

185454848-185468762 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 185455547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 162 (R162S)

Ref Sequence

ENSEMBL: ENSMUSP00000053181 (fasta)

Gene Model

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

AlphaFold

Q3UVU3

Predicted Effect

probably benign
Transcript: ENSMUST00000061093
AA Change: R162S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: R162S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180623

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.8%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	A	T	17: 55,817,073	H491L	possibly damaging	Het
Adgrg3	T	C	8: 95,035,110		probably benign	Het
Arhgap5	T	C	12: 52,559,960		probably benign	Het
Asic1	T	C	15: 99,696,983	Y334H	probably damaging	Het
Calcr	T	A	6: 3,717,157	D101V	probably damaging	Het
Cdh2	A	T	18: 16,774,509	N57K	probably benign	Het
Clec4d	C	A	6: 123,268,047	Y95*	probably null	Het
Cracr2a	A	G	6: 127,604,061	T67A	probably benign	Het
Dennd5a	A	T	7: 109,934,754	V53D	probably damaging	Het
Dnah7a	T	C	1: 53,468,684	D3076G	probably benign	Het
Espnl	T	C	1: 91,344,742	M608T	probably benign	Het
Fam149a	C	T	8: 45,341,146		probably benign	Het
Fam35a	T	C	14: 34,267,729	K407E	probably damaging	Het
Fam46c	T	C	3: 100,472,786	D218G	probably damaging	Het
Flnc	T	C	6: 29,454,340	V1884A	probably damaging	Het
Helz2	A	C	2: 181,237,802	S674R	probably benign	Het
Hoxa2	T	G	6: 52,164,487		probably null	Het
Ifi47	T	A	11: 49,096,070	N221K	probably damaging	Het
Ipo9	A	G	1: 135,405,924	V340A	probably damaging	Het
Kalrn	A	T	16: 34,031,590	N373K	probably damaging	Het
Kif26a	T	C	12: 112,163,337		probably benign	Het
Kiss1r	A	G	10: 79,918,689	T6A	possibly damaging	Het
Lama1	A	T	17: 67,737,498	I131F	probably damaging	Het
Nefm	T	C	14: 68,124,542	D91G	probably benign	Het
Nos3	C	T	5: 24,372,704	T572I	probably damaging	Het
Notch2	T	C	3: 98,138,761	F1710L	probably benign	Het
Olfr70	T	C	4: 43,696,648	N175S	probably damaging	Het
Olfr804	T	A	10: 129,705,277	I133N	probably damaging	Het
Ostm1	T	C	10: 42,679,258	L92P	probably damaging	Het
Pcdh15	T	A	10: 74,626,819	Y1445*	probably null	Het
Pde1b	T	C	15: 103,503,513	S14P	probably benign	Het
Pitpna	T	C	11: 75,625,484	V265A	probably benign	Het
Plec	G	T	15: 76,178,646	T2476K	probably damaging	Het
Pold2	A	G	11: 5,876,760	L58P	probably damaging	Het
Ppp3cc	C	T	14: 70,256,359		probably null	Het
Prss36	A	G	7: 127,934,545	L530P	probably damaging	Het
Ptpn13	T	C	5: 103,580,763		probably benign	Het
Ptpn23	T	C	9: 110,385,623	D1570G	probably damaging	Het
Rab42	T	C	4: 132,302,365	D182G	possibly damaging	Het
Rbm27	T	A	18: 42,305,672		probably benign	Het
Rp1	T	C	1: 4,344,760	E2043G	probably damaging	Het
Rufy3	C	T	5: 88,630,584	S341F	probably damaging	Het
Samd9l	C	T	6: 3,374,946	V772I	possibly damaging	Het
Scaper	A	G	9: 55,602,790	M654T	probably benign	Het
Sipa1l3	G	A	7: 29,348,318	P333S	probably damaging	Het
Spryd3	A	T	15: 102,128,537		probably null	Het
Tas2r110	T	C	6: 132,868,203	F66L	probably benign	Het
Thap2	T	C	10: 115,372,627	N196S	probably benign	Het
Themis2	C	A	4: 132,789,925	R88L	probably benign	Het
Trip12	A	T	1: 84,759,133		probably benign	Het
Ube3b	T	A	5: 114,390,376		probably benign	Het
Usp20	T	A	2: 31,002,612	H64Q	probably damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r15	T	C	5: 109,287,156	R561G	possibly damaging	Het
Vsig10l	A	G	7: 43,468,101	D604G	probably damaging	Het
Wdr90	A	G	17: 25,848,444		probably benign	Het
Xirp2	A	T	2: 67,508,378	N321I	probably damaging	Het
Zfp595	A	G	13: 67,320,920	F11S	possibly damaging	Het
Zfp953	T	A	13: 67,343,075	H271L	probably damaging	Het

Other mutations in Slc30a10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01485:Slc30a10	APN	1	185455419	missense	probably damaging	1.00
IGL01779:Slc30a10	APN	1	185464179	missense	possibly damaging	0.94
IGL01906:Slc30a10	APN	1	185456396	nonsense	probably null
IGL02024:Slc30a10	APN	1	185455241	missense	possibly damaging	0.94
R0133:Slc30a10	UTSW	1	185455173	missense	probably damaging	1.00
R1886:Slc30a10	UTSW	1	185462864	missense	probably damaging	1.00
R3915:Slc30a10	UTSW	1	185455136	nonsense	probably null
R5597:Slc30a10	UTSW	1	185462700	missense	probably damaging	1.00
R6175:Slc30a10	UTSW	1	185455311	missense	probably damaging	1.00
R6669:Slc30a10	UTSW	1	185464428	missense	probably benign
R8108:Slc30a10	UTSW	1	185464154	missense	possibly damaging	0.90
R8345:Slc30a10	UTSW	1	185455467	missense	probably benign	0.19
R9193:Slc30a10	UTSW	1	185462837	missense	probably damaging	1.00
R9227:Slc30a10	UTSW	1	185455194	missense	probably damaging	0.99
R9228:Slc30a10	UTSW	1	185455194	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAACATGCTGTCAGACCTGATCTCG -3'
(R):5'- GGAAGAACAAAGTGCTCCCAGTCC -3'

Sequencing Primer
(F):5'- GTCAGACCTGATCTCGCTGTG -3'
(R):5'- CGGAAGGATGCAACCGAAAG -3'

Posted On

2013-04-11