Incidental Mutation 'IGL02024:Slc6a8'
ID 184110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a8
Ensembl Gene ENSMUSG00000019558
Gene Name solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Synonyms CRT, Creat
Accession Numbers
Essential gene? Not available question?
Stock # IGL02024
Quality Score
Status
Chromosome X
Chromosomal Location 72716756-72726108 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 72722583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033752] [ENSMUST00000114465] [ENSMUST00000114467] [ENSMUST00000164449] [ENSMUST00000171398]
AlphaFold Q8VBW1
Predicted Effect probably benign
Transcript: ENSMUST00000033752
SMART Domains Protein: ENSMUSP00000033752
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 52 588 9.9e-242 PFAM
low complexity region 627 639 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114464
Predicted Effect probably benign
Transcript: ENSMUST00000114465
SMART Domains Protein: ENSMUSP00000110109
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 52 583 1e-244 PFAM
low complexity region 622 634 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114467
SMART Domains Protein: ENSMUSP00000110111
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 52 583 1e-244 PFAM
low complexity region 622 634 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146796
Predicted Effect probably benign
Transcript: ENSMUST00000164449
SMART Domains Protein: ENSMUSP00000126076
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 52 578 1.1e-231 PFAM
low complexity region 617 629 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166200
Predicted Effect probably benign
Transcript: ENSMUST00000168831
SMART Domains Protein: ENSMUSP00000132921
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 1 524 4.4e-237 PFAM
low complexity region 563 575 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167828
Predicted Effect probably benign
Transcript: ENSMUST00000171398
SMART Domains Protein: ENSMUSP00000128079
Gene: ENSMUSG00000019558

DomainStartEndE-ValueType
Pfam:SNF 1 108 6.4e-40 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 plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
PHENOTYPE: Male mice hemizygous for a targeted allele exhibit decreased body weight, decreased creatine concentrations, impaired short term object recognition, impaired contextual conditioning, altered locomotor activity, and increased serotonine levels in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,113,705 (GRCm39) H246Y probably damaging Het
Abat G A 16: 8,429,000 (GRCm39) A322T probably damaging Het
Bcat1 A G 6: 144,978,564 (GRCm39) V152A probably damaging Het
Btaf1 A G 19: 36,969,826 (GRCm39) probably benign Het
Elavl2 T C 4: 91,141,776 (GRCm39) T291A probably benign Het
Ezh1 G T 11: 101,090,166 (GRCm39) H529Q probably damaging Het
Fcgbp G A 7: 27,805,799 (GRCm39) C2026Y probably damaging Het
Fcgrt T A 7: 44,744,682 (GRCm39) H258L probably damaging Het
Galnt6 C T 15: 100,601,374 (GRCm39) D302N probably benign Het
Gldc T A 19: 30,078,227 (GRCm39) R923S probably damaging Het
Hspg2 G T 4: 137,267,384 (GRCm39) A2033S probably damaging Het
Htr2c T A X: 145,858,921 (GRCm39) M77K probably damaging Het
Ifi208 A G 1: 173,510,856 (GRCm39) Y337C probably damaging Het
Ints11 G T 4: 155,972,972 (GRCm39) W554L probably damaging Het
Itgbl1 T A 14: 124,094,904 (GRCm39) C186S probably damaging Het
Lipf A G 19: 33,953,995 (GRCm39) Y362C probably damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Mroh9 T G 1: 162,890,071 (GRCm39) N222T possibly damaging Het
Msl3 C A X: 167,453,247 (GRCm39) R89L probably benign Het
Nrip1 T A 16: 76,088,563 (GRCm39) D998V probably benign Het
Nrk T A X: 137,896,678 (GRCm39) I1265N probably damaging Het
Ntn5 A G 7: 45,340,830 (GRCm39) probably benign Het
Or11g27 A G 14: 50,771,307 (GRCm39) N146S probably benign Het
Or5w20 A T 2: 87,727,243 (GRCm39) R233S possibly damaging Het
Or6s1 T G 14: 51,308,766 (GRCm39) E28A probably benign Het
Plch2 T C 4: 155,127,595 (GRCm39) probably benign Het
Porcn C T X: 8,067,901 (GRCm39) V233I probably benign Het
Ppp2r2a T C 14: 67,276,361 (GRCm39) K48R probably benign Het
Ppp4r3c1 G A X: 88,975,129 (GRCm39) T356I probably benign Het
Rccd1 A T 7: 79,968,755 (GRCm39) D268E probably benign Het
Sacs C A 14: 61,427,127 (GRCm39) S178R probably damaging Het
Samd12 T A 15: 53,521,862 (GRCm39) D116V probably damaging Het
Slc12a8 A G 16: 33,428,568 (GRCm39) E46G probably damaging Het
Slc30a10 A T 1: 185,187,438 (GRCm39) I60F possibly damaging Het
Sos2 A G 12: 69,664,822 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,783,338 (GRCm39) V79A probably benign Het
Tmem184c A T 8: 78,331,443 (GRCm39) V102E probably benign Het
Ttc19 G T 11: 62,203,939 (GRCm39) R300I probably damaging Het
Unc5d T A 8: 29,142,855 (GRCm39) I866F probably benign Het
Vmn1r7 A T 6: 57,001,874 (GRCm39) C129S probably benign Het
Vps41 T A 13: 18,975,827 (GRCm39) probably benign Het
Vwa8 C T 14: 79,331,724 (GRCm39) A1275V possibly damaging Het
Other mutations in Slc6a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2108:Slc6a8 UTSW X 72,720,492 (GRCm39) missense possibly damaging 0.88
Posted On 2014-05-07