Incidental Mutation 'IGL02291:Slc7a9'
ID 290328
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a9
Ensembl Gene ENSMUSG00000030492
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 9
Synonyms b, + amino acid transporter, CSNU3, b, +AT
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02291
Quality Score
Status
Chromosome 7
Chromosomal Location 35448796-35466036 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35457014 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 294 (G294R)
Ref Sequence ENSEMBL: ENSMUSP00000112726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032703] [ENSMUST00000118383] [ENSMUST00000118969] [ENSMUST00000141245]
AlphaFold Q9QXA6
Predicted Effect probably damaging
Transcript: ENSMUST00000032703
AA Change: G294R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: G294R

DomainStartEndE-ValueType
Pfam:AA_permease_2 30 456 9e-67 PFAM
Pfam:AA_permease 35 468 4.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118383
AA Change: G294R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: G294R

DomainStartEndE-ValueType
Pfam:AA_permease_2 30 456 9e-67 PFAM
Pfam:AA_permease 35 468 4.8e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118969
AA Change: G294R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: G294R

DomainStartEndE-ValueType
Pfam:AA_permease_2 30 457 1.8e-65 PFAM
Pfam:AA_permease 35 468 2.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147026
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Inactivation of this locus leads to renal absorption defects and cystine urolithiasis, similar to the symptoms observed in patients with cystinuria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Krt17 A T 11: 100,256,493 V404E probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Mks1 T A 11: 87,859,667 probably benign Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr532 A T 7: 140,419,287 L162Q probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Psmd5 A G 2: 34,857,799 V282A probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Taf7 C T 18: 37,643,362 G51R possibly damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Slc7a9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Slc7a9 APN 7 35460887 missense probably damaging 0.97
IGL01538:Slc7a9 APN 7 35454164 missense probably damaging 0.97
IGL01860:Slc7a9 APN 7 35457060 missense probably damaging 1.00
IGL02436:Slc7a9 APN 7 35457053 missense probably benign 0.23
IGL02525:Slc7a9 APN 7 35453435 missense probably damaging 1.00
IGL03296:Slc7a9 APN 7 35452427 missense probably damaging 1.00
R0006:Slc7a9 UTSW 7 35470100 unclassified probably benign
R1703:Slc7a9 UTSW 7 35454575 missense probably benign
R1886:Slc7a9 UTSW 7 35453402 missense possibly damaging 0.94
R1886:Slc7a9 UTSW 7 35453403 missense probably damaging 0.96
R1907:Slc7a9 UTSW 7 35449854 missense probably benign 0.00
R2027:Slc7a9 UTSW 7 35454137 missense probably damaging 0.97
R2133:Slc7a9 UTSW 7 35453493 missense probably damaging 0.99
R2937:Slc7a9 UTSW 7 35463742 nonsense probably null
R3684:Slc7a9 UTSW 7 35453501 missense probably benign 0.02
R4506:Slc7a9 UTSW 7 35453420 missense probably damaging 1.00
R4731:Slc7a9 UTSW 7 35453563 nonsense probably null
R4732:Slc7a9 UTSW 7 35453563 nonsense probably null
R4733:Slc7a9 UTSW 7 35453563 nonsense probably null
R5007:Slc7a9 UTSW 7 35454129 missense probably benign 0.09
R6175:Slc7a9 UTSW 7 35465852 missense probably damaging 1.00
R6405:Slc7a9 UTSW 7 35454639 missense probably damaging 1.00
R6701:Slc7a9 UTSW 7 35459849 missense probably damaging 1.00
R6932:Slc7a9 UTSW 7 35452511 missense probably benign 0.16
R7760:Slc7a9 UTSW 7 35457075 missense possibly damaging 0.88
R8121:Slc7a9 UTSW 7 35454117 missense probably damaging 1.00
R8177:Slc7a9 UTSW 7 35456133 missense probably benign
R8185:Slc7a9 UTSW 7 35452417 missense probably damaging 1.00
R8416:Slc7a9 UTSW 7 35453433 missense probably benign 0.41
R8732:Slc7a9 UTSW 7 35457018 missense probably benign 0.26
R8803:Slc7a9 UTSW 7 35463718 missense possibly damaging 0.90
R9052:Slc7a9 UTSW 7 35453592 missense probably benign 0.03
X0022:Slc7a9 UTSW 7 35452502 missense possibly damaging 0.91
Z1177:Slc7a9 UTSW 7 35453570 missense possibly damaging 0.76
Posted On 2015-04-16