Incidental Mutation 'IGL02086:Slc31a1'
ID 285465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc31a1
Ensembl Gene ENSMUSG00000066150
Gene Name solute carrier family 31, member 1
Synonyms Ctr1, 4930445G01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02086
Quality Score
Status
Chromosome 4
Chromosomal Location 62278964-62310006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62306241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 120 (T120S)
Ref Sequence ENSEMBL: ENSMUSP00000112822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084526] [ENSMUST00000122092] [ENSMUST00000134727]
AlphaFold Q8K211
Predicted Effect possibly damaging
Transcript: ENSMUST00000084526
AA Change: T120S

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081574
Gene: ENSMUSG00000066150
AA Change: T120S

DomainStartEndE-ValueType
low complexity region 1 19 N/A INTRINSIC
Pfam:Ctr 49 181 2e-33 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122092
AA Change: T120S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112822
Gene: ENSMUSG00000066150
AA Change: T120S

DomainStartEndE-ValueType
low complexity region 1 19 N/A INTRINSIC
Pfam:Ctr 49 130 2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134727
SMART Domains Protein: ENSMUSP00000120496
Gene: ENSMUSG00000066149

DomainStartEndE-ValueType
Pfam:APC_CDC26 1 66 1.1e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis associated with abnormal embryogenesis. Mice heterozygous for a null allele exhibit decreased copper levels in the blood and several organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Or56b2 A T 7: 104,337,634 (GRCm39) R137S probably benign Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Slc31a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Slc31a1 APN 4 62,306,273 (GRCm39) critical splice donor site probably null
IGL02752:Slc31a1 APN 4 62,303,869 (GRCm39) intron probably benign
R0454:Slc31a1 UTSW 4 62,303,866 (GRCm39) intron probably benign
R0514:Slc31a1 UTSW 4 62,303,841 (GRCm39) intron probably benign
R1901:Slc31a1 UTSW 4 62,303,842 (GRCm39) intron probably benign
R2883:Slc31a1 UTSW 4 62,307,008 (GRCm39) missense probably damaging 0.97
R4687:Slc31a1 UTSW 4 62,306,939 (GRCm39) missense probably damaging 1.00
R5086:Slc31a1 UTSW 4 62,306,190 (GRCm39) missense probably damaging 1.00
R9378:Slc31a1 UTSW 4 62,306,843 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16