Incidental Mutation 'R6669:Slc30a10'
ID 528045
Institutional Source Beutler Lab
Gene Symbol Slc30a10
Ensembl Gene ENSMUSG00000026614
Gene Name solute carrier family 30, member 10
Synonyms E130106K10Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6669 (G1)
Quality Score 207.009
Status Validated
Chromosome 1
Chromosomal Location 185187045-185200959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 185196625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 429 (R429Q)
Ref Sequence ENSEMBL: ENSMUSP00000053181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061093]
AlphaFold Q3UVU3
Predicted Effect probably benign
Transcript: ENSMUST00000061093
AA Change: R429Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: R429Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 11 299 2e-44 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Tox4 T C 14: 52,524,213 (GRCm39) Y116H probably damaging Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Slc30a10
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Predicted Primers PCR Primer
(F):5'- CGAGAGATCTTCCACCATGC -3'
(R):5'- ATAAGCAGAGCTGGTGACACC -3'

Sequencing Primer
(F):5'- TGCTGGAATCCACAACGTG -3'
(R):5'- CACCAAAGTGTCTGTTCAGAC -3'
Posted On 2018-07-24