Incidental Mutation 'R8732:Slc7a9'
ID 662805
Institutional Source Beutler Lab
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
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R8732 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 35448796-35466036 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35457018 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 295 (D295G)
Ref Sequence ENSEMBL: ENSMUSP00000032703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032703] [ENSMUST00000118383] [ENSMUST00000118969] [ENSMUST00000141245]
AlphaFold Q9QXA6
Predicted Effect probably benign
Transcript: ENSMUST00000032703
AA Change: D295G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032703
Gene: ENSMUSG00000030492
AA Change: D295G

DomainStartEndE-ValueType
Pfam:AA_permease_2 30 456 9e-67 PFAM
Pfam:AA_permease 35 468 4.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118383
AA Change: D295G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113181
Gene: ENSMUSG00000030492
AA Change: D295G

DomainStartEndE-ValueType
Pfam:AA_permease_2 30 456 9e-67 PFAM
Pfam:AA_permease 35 468 4.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118969
AA Change: D295G

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112726
Gene: ENSMUSG00000030492
AA Change: D295G

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
Meta Mutation Damage Score 0.2333 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.0%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp A T 13: 41,828,146 N82K probably damaging Het
Ankrd36 T A 11: 5,628,906 S57T possibly damaging Het
Aoc3 A G 11: 101,331,817 N293S probably benign Het
Aup1 A T 6: 83,056,621 H302L probably damaging Het
Bptf G A 11: 107,040,380 R277W probably damaging Het
Cald1 A G 6: 34,758,011 I346V unknown Het
Cd44 T C 2: 102,834,300 T519A possibly damaging Het
Cela1 A G 15: 100,682,885 probably null Het
Ces2g T C 8: 104,962,563 V57A possibly damaging Het
Cpt1b G C 15: 89,424,425 T100S probably benign Het
D6Wsu163e A T 6: 126,955,896 I361F possibly damaging Het
Dock5 A T 14: 67,846,000 D153E possibly damaging Het
Dync2h1 G T 9: 7,168,326 R430S probably damaging Het
Eml5 C T 12: 98,815,959 G1405R probably damaging Het
Ergic2 G A 6: 148,201,477 A91V probably damaging Het
Fancl A T 11: 26,469,754 I336L probably benign Het
Fpr3 A G 17: 17,970,961 T165A possibly damaging Het
Gm11639 T A 11: 104,804,274 F1730L probably benign Het
Gon4l A G 3: 88,899,984 I1662V possibly damaging Het
Gpr153 C T 4: 152,279,101 probably benign Het
Hdac4 C A 1: 91,947,517 A911S probably damaging Het
Ighd T C 12: 113,414,563 N139D Het
Klhl22 T A 16: 17,771,826 L117Q probably damaging Het
Kntc1 A G 5: 123,790,117 S1226G probably benign Het
Lama5 A T 2: 180,186,688 C2126S probably damaging Het
Ldlr A G 9: 21,739,689 I468V probably benign Het
Lmtk3 G A 7: 45,798,288 A1253T unknown Het
Lta T A 17: 35,204,069 N93Y probably damaging Het
Macf1 A T 4: 123,509,770 probably null Het
Mink1 A G 11: 70,610,076 probably null Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Ntpcr A G 8: 125,745,335 M132V probably benign Het
Olfr298 A G 7: 86,488,853 S233P probably damaging Het
Olfr664 A G 7: 104,733,908 M152T probably benign Het
Olfr851 T C 9: 19,496,802 I18T probably benign Het
Padi2 A G 4: 140,933,279 I357V probably benign Het
Pax7 G T 4: 139,779,609 H372Q probably benign Het
Paxip1 A G 5: 27,744,543 Y966H probably damaging Het
Pde4b A C 4: 102,555,625 D199A probably null Het
Pkd1l2 T C 8: 117,065,572 N494D probably benign Het
Prdm2 G T 4: 143,136,010 Q237K probably benign Het
Prune2 T C 19: 17,120,405 L1091P probably damaging Het
Rab9 C T X: 166,457,758 D186N probably benign Het
Rassf5 A G 1: 131,178,527 *414Q probably null Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Rrp9 C A 9: 106,483,189 T238K probably benign Het
Slc44a2 A G 9: 21,348,586 D630G probably benign Het
Slco3a1 A T 7: 74,284,306 M706K possibly damaging Het
Spag9 T C 11: 94,071,688 probably null Het
Stam2 A T 2: 52,700,168 Y394N probably damaging Het
Stard9 T C 2: 120,679,961 L341P probably damaging Het
Steap3 A T 1: 120,243,894 H160Q probably damaging Het
Stxbp5l A T 16: 37,241,447 C334S probably benign Het
Tcof1 G C 18: 60,829,051 A702G possibly damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,160,856 probably null Het
Tmem74 A T 15: 43,868,060 probably benign Het
Ttn T C 2: 76,707,136 K34816R possibly damaging Het
Ttn T A 2: 76,797,391 N14736I probably damaging Het
Vmn1r183 A G 7: 24,055,465 Q231R possibly damaging Het
Vmn1r235 A G 17: 21,262,177 T255A probably damaging Het
Wasl A T 6: 24,619,210 I437K unknown Het
Wdr34 T A 2: 30,032,208 T414S possibly damaging Het
Ywhae A G 11: 75,751,943 N43D probably damaging Het
Zfp583 A T 7: 6,317,211 Y267* probably null Het
Zfp608 C T 18: 54,988,000 G172R probably benign 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
IGL02291:Slc7a9 APN 7 35457014 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
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
Predicted Primers PCR Primer
(F):5'- AGGTGACTGATGGAGATGCC -3'
(R):5'- GAGTTTGTACACGTGCACCCAG -3'

Sequencing Primer
(F):5'- AGATGCCAGCGTGGTGG -3'
(R):5'- CCTGATGTGGGATTTAACCTAGCAG -3'
Posted On 2021-03-08