Incidental Mutation 'R2883:Slc31a1'
Institutional Source Beutler Lab
Gene Symbol Slc31a1
Ensembl Gene ENSMUSG00000066150
Gene Namesolute carrier family 31, member 1
Synonyms4930445G01Rik, Ctr1
MMRRC Submission 040471-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2883 (G1)
Quality Score224
Status Not validated
Chromosomal Location62360727-62391769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62388771 bp
Amino Acid Change Valine to Alanine at position 188 (V188A)
Ref Sequence ENSEMBL: ENSMUSP00000081574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084526] [ENSMUST00000122092] [ENSMUST00000134727]
Predicted Effect probably damaging
Transcript: ENSMUST00000084526
AA Change: V188A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081574
Gene: ENSMUSG00000066150
AA Change: V188A

low complexity region 1 19 N/A INTRINSIC
Pfam:Ctr 49 181 2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122092
SMART Domains Protein: ENSMUSP00000112822
Gene: ENSMUSG00000066150

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

Pfam:APC_CDC26 1 66 1.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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
1700001C19Rik C A 17: 47,436,725 V32F probably damaging Het
1700018B08Rik G A 8: 121,539,905 P81S probably damaging Het
Arhgef10l T C 4: 140,516,802 Q790R probably benign Het
Asic2 T A 11: 80,894,013 I367F possibly damaging Het
Asxl2 T C 12: 3,501,830 S1191P probably benign Het
Bod1l A G 5: 41,832,259 S374P probably benign Het
C1qtnf7 T A 5: 43,615,880 F167I probably damaging Het
Col13a1 A G 10: 61,978,356 L94P probably benign Het
Cped1 A T 6: 22,143,979 T575S probably damaging Het
Cpt1b T C 15: 89,417,869 Y702C probably benign Het
D630039A03Rik T A 4: 57,910,560 N84I probably damaging Het
Dse A T 10: 34,152,507 D862E probably benign Het
Etl4 A T 2: 20,806,174 T1023S possibly damaging Het
Fat4 T A 3: 38,980,804 N2868K probably damaging Het
Fgd5 G A 6: 91,987,109 probably null Het
Fsip2 C T 2: 82,991,524 T5867I possibly damaging Het
Fuca2 A G 10: 13,505,951 T203A probably benign Het
Gli2 T C 1: 118,868,144 I131V probably damaging Het
Gtpbp4 A G 13: 8,990,723 V122A possibly damaging Het
Kif1b G A 4: 149,237,648 T938I possibly damaging Het
Klhl29 T C 12: 5,084,036 D767G probably damaging Het
Mageb3 A G 2: 121,954,366 V285A probably benign Het
Myoc A G 1: 162,639,616 E118G possibly damaging Het
Nedd1 A C 10: 92,694,998 F410V probably damaging Het
Nipal1 A T 5: 72,667,730 K255N probably damaging Het
Npr3 T C 15: 11,883,324 K340E possibly damaging Het
Obsl1 C A 1: 75,496,511 G1023C possibly damaging Het
Ogdh T C 11: 6,334,545 L188P probably damaging Het
Olfr110 C T 17: 37,499,380 S243F probably damaging Het
Olfr1500 T A 19: 13,827,875 I174F probably damaging Het
Olfr616 T C 7: 103,565,264 N5S probably benign Het
Otogl G A 10: 107,768,981 T2188M probably damaging Het
Pck1 G A 2: 173,158,575 V600I probably benign Het
Ranbp17 A G 11: 33,504,708 C42R probably damaging Het
Rapgef4 G A 2: 72,031,125 R53H probably benign Het
Rbm12 G A 2: 156,097,075 H426Y probably damaging Het
Retreg2 C T 1: 75,146,712 P428L probably benign Het
Rev3l G T 10: 39,825,156 S1883I probably damaging Het
Rinl CGGG CGGGGG 7: 28,797,658 probably null Het
Rora T C 9: 69,375,435 S356P probably damaging Het
Slc9a3 A G 13: 74,158,760 K335E probably damaging Het
Spata22 C A 11: 73,344,678 H274N possibly damaging Het
Srrm1 T C 4: 135,321,411 probably benign Het
Stab2 A T 10: 86,967,686 I333N possibly damaging Het
Supt5 A G 7: 28,329,320 Y153H possibly damaging Het
Tyk2 T C 9: 21,110,587 T825A probably benign Het
Usp20 G A 2: 31,018,800 V798M probably benign Het
Wdr26 A T 1: 181,211,120 D102E probably damaging Het
Other mutations in Slc31a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Slc31a1 APN 4 62388036 critical splice donor site probably null
IGL02086:Slc31a1 APN 4 62388004 missense possibly damaging 0.89
IGL02752:Slc31a1 APN 4 62385632 intron probably benign
R0454:Slc31a1 UTSW 4 62385629 intron probably benign
R0514:Slc31a1 UTSW 4 62385604 intron probably benign
R1901:Slc31a1 UTSW 4 62385605 intron probably benign
R4687:Slc31a1 UTSW 4 62388702 missense probably damaging 1.00
R5086:Slc31a1 UTSW 4 62387953 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-01-23