Incidental Mutation 'R5597:Slc30a10'
ID 437853
Institutional Source Beutler Lab
Gene Symbol Slc30a10
Ensembl Gene ENSMUSG00000026614
Gene Name solute carrier family 30, member 10
Synonyms E130106K10Rik
MMRRC Submission 043149-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5597 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 185187045-185200959 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 185194897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 236 (H236Q)
Ref Sequence ENSEMBL: ENSMUSP00000053181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061093]
AlphaFold Q3UVU3
Predicted Effect probably damaging
Transcript: ENSMUST00000061093
AA Change: H236Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053181
Gene: ENSMUSG00000026614
AA Change: H236Q

DomainStartEndE-ValueType
Pfam:Cation_efflux 11 299 2e-44 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,927,363 (GRCm39) T1330I probably damaging Het
Aebp1 T C 11: 5,816,487 (GRCm39) V322A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Bsn A T 9: 107,992,131 (GRCm39) M1207K probably benign Het
Btla A G 16: 45,064,599 (GRCm39) T183A probably benign Het
Cdca8 G A 4: 124,812,793 (GRCm39) R286W probably damaging Het
Cnot6l T C 5: 96,278,978 (GRCm39) D80G probably damaging Het
Col16a1 A G 4: 129,952,097 (GRCm39) D93G probably damaging Het
Ctsk T C 3: 95,409,007 (GRCm39) V130A probably damaging Het
Cul9 T C 17: 46,813,591 (GRCm39) E2294G possibly damaging Het
Dcaf5 G T 12: 80,386,817 (GRCm39) S436R probably damaging Het
Dnah7a A T 1: 53,573,611 (GRCm39) L1792H probably benign Het
Dst T C 1: 34,231,794 (GRCm39) V3307A probably benign Het
Frrs1 C T 3: 116,671,887 (GRCm39) probably benign Het
Gimap4 T C 6: 48,667,698 (GRCm39) L151P probably damaging Het
Hook2 A G 8: 85,720,657 (GRCm39) N166S probably benign Het
Hp1bp3 A T 4: 137,948,939 (GRCm39) M1L possibly damaging Het
Igkv4-56 T A 6: 69,564,467 (GRCm39) noncoding transcript Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Lamc1 A G 1: 153,127,716 (GRCm39) C396R probably damaging Het
Lars2 A T 9: 123,284,047 (GRCm39) D745V probably damaging Het
Macf1 A T 4: 123,433,570 (GRCm39) probably benign Het
Mapk4 T A 18: 74,070,341 (GRCm39) Y184F probably benign Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Msh2 T C 17: 88,030,789 (GRCm39) S889P probably benign Het
Nebl A G 2: 17,382,978 (GRCm39) S100P probably benign Het
Nudt7 A T 8: 114,878,506 (GRCm39) H154L probably benign Het
Olig2 A T 16: 91,023,768 (GRCm39) M161L probably benign Het
Or2ah1 T C 2: 85,653,804 (GRCm39) L163P probably damaging Het
Or5h24 A T 16: 58,918,710 (GRCm39) V215D unknown Het
Or6c214 T C 10: 129,590,755 (GRCm39) D188G probably damaging Het
Palmd T A 3: 116,717,225 (GRCm39) D424V probably damaging Het
Pdzk1ip1 A G 4: 114,950,689 (GRCm39) N164D probably damaging Het
Prkag1 A G 15: 98,713,789 (GRCm39) S14P probably damaging Het
Prss12 C T 3: 123,258,389 (GRCm39) P161L probably benign Het
Pwwp2a T C 11: 43,573,422 (GRCm39) V168A probably benign Het
Rassf7 A G 7: 140,797,024 (GRCm39) D79G probably damaging Het
Rgs3 A T 4: 62,542,082 (GRCm39) I19F probably damaging Het
Slco3a1 C A 7: 73,934,210 (GRCm39) R654L probably benign Het
Smad4 A C 18: 73,795,898 (GRCm39) F165L probably benign Het
Swsap1 G T 9: 21,867,242 (GRCm39) R62M probably damaging Het
Tenm4 T A 7: 96,202,724 (GRCm39) M113K probably benign Het
Tmem225 A G 9: 40,060,726 (GRCm39) N95S possibly damaging Het
Tnni3k A T 3: 154,577,765 (GRCm39) L658H probably damaging Het
Trem2 G A 17: 48,658,840 (GRCm39) V202I probably benign Het
Tyw1 C T 5: 130,303,498 (GRCm39) L289F probably benign Het
Vcam1 T A 3: 115,919,651 (GRCm39) D205V probably damaging Het
Vmn2r-ps158 A G 7: 42,674,073 (GRCm39) D377G probably benign Het
Yy1 A G 12: 108,781,436 (GRCm39) D367G probably damaging Het
Zfp11 A T 5: 129,734,166 (GRCm39) C432S probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TCACATTGCTCTGACCTGTG -3'
(R):5'- TTTGATCAGTGGGAAAGCTGAC -3'

Sequencing Primer
(F):5'- AAGATGGTCTCACTATGTAGCTTAGG -3'
(R):5'- CTGACGATAAGATAATGATGACCATG -3'
Posted On 2016-10-26