Incidental Mutation 'IGL01768:Slc31a1'
ID154021
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc31a1
Ensembl Gene ENSMUSG00000066150
Gene Namesolute carrier family 31, member 1
Synonyms4930445G01Rik, Ctr1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01768
Quality Score
Status
Chromosome4
Chromosomal Location62360727-62391769 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 62388036 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084526] [ENSMUST00000122092] [ENSMUST00000134727]
Predicted Effect probably null
Transcript: ENSMUST00000084526
SMART Domains Protein: ENSMUSP00000081574
Gene: ENSMUSG00000066150

DomainStartEndE-ValueType
low complexity region 1 19 N/A INTRINSIC
Pfam:Ctr 49 181 2e-33 PFAM
Predicted Effect silent
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931417E11Rik A T 6: 73,468,916 L217M possibly damaging Het
Aifm3 T C 16: 17,506,277 V567A possibly damaging Het
Arnt T C 3: 95,491,016 probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Capn5 C T 7: 98,125,273 R570H probably damaging Het
Ccdc173 A T 2: 69,782,127 probably benign Het
Cdh9 A T 15: 16,778,225 D42V possibly damaging Het
Cdk17 T C 10: 93,208,261 S21P probably damaging Het
Cdkl3 T A 11: 52,025,917 F291I probably damaging Het
Clmn T C 12: 104,781,719 E523G probably damaging Het
Cyp4f14 A T 17: 32,908,002 I318N probably damaging Het
Daam1 T A 12: 71,989,885 F1068L probably benign Het
Ext2 A G 2: 93,791,110 probably benign Het
F5 T A 1: 164,176,345 F236L probably benign Het
Fat2 A G 11: 55,262,568 V3606A probably damaging Het
Gpam G A 19: 55,087,520 T220M probably benign Het
Hyal1 C A 9: 107,579,139 L342I probably damaging Het
Ilvbl C A 10: 78,583,293 P459T possibly damaging Het
Itga5 A G 15: 103,351,570 Y632H probably benign Het
Krt73 T C 15: 101,798,856 D299G probably benign Het
Lcp1 T C 14: 75,224,133 V522A probably benign Het
Lmo3 A G 6: 138,416,497 C53R probably damaging Het
Nsun7 T C 5: 66,278,700 V305A probably benign Het
Olfr1391 G A 11: 49,328,131 C240Y probably damaging Het
Olfr1427 A T 19: 12,099,039 I200N probably damaging Het
Olfr859 G A 9: 19,809,160 V281M possibly damaging Het
Oprm1 T C 10: 6,829,186 S196P probably damaging Het
Ovgp1 T C 3: 105,981,351 probably null Het
Pcdhb20 T C 18: 37,506,715 F765L possibly damaging Het
Ppp4r4 T C 12: 103,581,405 V3A probably benign Het
Ruvbl1 A G 6: 88,497,271 I419V probably benign Het
Scara5 T A 14: 65,689,775 C40* probably null Het
Siglec1 T C 2: 131,074,394 Q1212R probably benign Het
Sparc G T 11: 55,405,243 N87K probably damaging Het
Tcf12 T C 9: 71,868,996 probably null Het
Timm44 A T 8: 4,266,860 F258I probably benign Het
Tm2d2 G T 8: 25,018,079 V80L possibly damaging Het
Tpr A G 1: 150,444,448 D2249G possibly damaging Het
Trim50 G T 5: 135,363,882 G217V possibly damaging Het
Ugcg T C 4: 59,217,216 probably null Het
Vmn2r107 A T 17: 20,345,606 H61L probably benign Het
Zfp84 A G 7: 29,776,666 H261R probably benign Het
Zswim2 A T 2: 83,917,957 M293K probably benign Het
Other mutations in Slc31a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2883:Slc31a1 UTSW 4 62388771 missense probably damaging 0.97
R4687:Slc31a1 UTSW 4 62388702 missense probably damaging 1.00
R5086:Slc31a1 UTSW 4 62387953 missense probably damaging 1.00
Posted On2014-02-04