Incidental Mutation 'R2883:Slc31a1'
ID 260906
Institutional Source Beutler Lab
Gene Symbol Slc31a1
Ensembl Gene ENSMUSG00000066150
Gene Name solute carrier family 31, member 1
Synonyms Ctr1, 4930445G01Rik
MMRRC Submission 040471-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2883 (G1)
Quality Score 224
Status Not validated
Chromosome 4
Chromosomal Location 62278964-62310006 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62307008 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K211
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

DomainStartEndE-ValueType
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

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
  • 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
1700018B08Rik G A 8: 122,266,644 (GRCm39) P81S probably damaging Het
Arhgef10l T C 4: 140,244,113 (GRCm39) Q790R probably benign Het
Asic2 T A 11: 80,784,839 (GRCm39) I367F possibly damaging Het
Asxl2 T C 12: 3,551,830 (GRCm39) S1191P probably benign Het
Bod1l A G 5: 41,989,602 (GRCm39) S374P probably benign Het
C1qtnf7 T A 5: 43,773,222 (GRCm39) F167I probably damaging Het
Cimip3 C A 17: 47,747,650 (GRCm39) V32F probably damaging Het
Col13a1 A G 10: 61,814,135 (GRCm39) L94P probably benign Het
Cped1 A T 6: 22,143,978 (GRCm39) T575S probably damaging Het
Cpt1b T C 15: 89,302,072 (GRCm39) Y702C probably benign Het
D630039A03Rik T A 4: 57,910,560 (GRCm39) N84I probably damaging Het
Dse A T 10: 34,028,503 (GRCm39) D862E probably benign Het
Etl4 A T 2: 20,810,985 (GRCm39) T1023S possibly damaging Het
Fat4 T A 3: 39,034,953 (GRCm39) N2868K probably damaging Het
Fgd5 G A 6: 91,964,090 (GRCm39) probably null Het
Fsip2 C T 2: 82,821,868 (GRCm39) T5867I possibly damaging Het
Fuca2 A G 10: 13,381,695 (GRCm39) T203A probably benign Het
Gli2 T C 1: 118,795,874 (GRCm39) I131V probably damaging Het
Gtpbp4 A G 13: 9,040,759 (GRCm39) V122A possibly damaging Het
Kif1b G A 4: 149,322,105 (GRCm39) T938I possibly damaging Het
Klhl29 T C 12: 5,134,036 (GRCm39) D767G probably damaging Het
Mageb3 A G 2: 121,784,847 (GRCm39) V285A probably benign Het
Myoc A G 1: 162,467,185 (GRCm39) E118G possibly damaging Het
Nedd1 A C 10: 92,530,860 (GRCm39) F410V probably damaging Het
Nipal1 A T 5: 72,825,073 (GRCm39) K255N probably damaging Het
Npr3 T C 15: 11,883,410 (GRCm39) K340E possibly damaging Het
Obsl1 C A 1: 75,473,155 (GRCm39) G1023C possibly damaging Het
Ogdh T C 11: 6,284,545 (GRCm39) L188P probably damaging Het
Or51ac3 T C 7: 103,214,471 (GRCm39) N5S probably benign Het
Or5v1 C T 17: 37,810,271 (GRCm39) S243F probably damaging Het
Or9q1 T A 19: 13,805,239 (GRCm39) I174F probably damaging Het
Otogl G A 10: 107,604,842 (GRCm39) T2188M probably damaging Het
Pck1 G A 2: 173,000,368 (GRCm39) V600I probably benign Het
Ranbp17 A G 11: 33,454,708 (GRCm39) C42R probably damaging Het
Rapgef4 G A 2: 71,861,469 (GRCm39) R53H probably benign Het
Rbm12 G A 2: 155,938,995 (GRCm39) H426Y probably damaging Het
Retreg2 C T 1: 75,123,356 (GRCm39) P428L probably benign Het
Rev3l G T 10: 39,701,152 (GRCm39) S1883I probably damaging Het
Rinl CGGG CGGGGG 7: 28,497,083 (GRCm39) probably null Het
Rora T C 9: 69,282,717 (GRCm39) S356P probably damaging Het
Slc9a3 A G 13: 74,306,879 (GRCm39) K335E probably damaging Het
Spata22 C A 11: 73,235,504 (GRCm39) H274N possibly damaging Het
Srrm1 T C 4: 135,048,722 (GRCm39) probably benign Het
Stab2 A T 10: 86,803,550 (GRCm39) I333N possibly damaging Het
Supt5 A G 7: 28,028,745 (GRCm39) Y153H possibly damaging Het
Tyk2 T C 9: 21,021,883 (GRCm39) T825A probably benign Het
Usp20 G A 2: 30,908,812 (GRCm39) V798M probably benign Het
Wdr26 A T 1: 181,038,685 (GRCm39) D102E probably damaging Het
Other mutations in Slc31a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01768:Slc31a1 APN 4 62,306,273 (GRCm39) critical splice donor site probably null
IGL02086:Slc31a1 APN 4 62,306,241 (GRCm39) missense possibly damaging 0.89
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
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
Predicted Primers PCR Primer
(F):5'- GTTAGGCTGTTCTCCTGAGC -3'
(R):5'- TCAGAGACTGTCAGCTAGGC -3'

Sequencing Primer
(F):5'- TTATCCCCAGGCAGCAGATG -3'
(R):5'- AGAGACTGTCAGCTAGGCTTCTATTC -3'
Posted On 2015-01-23