Incidental Mutation 'P0005:Slc7a6os'
ID 7601
Institutional Source Beutler Lab
Gene Symbol Slc7a6os
Ensembl Gene ENSMUSG00000033106
Gene Name solute carrier family 7, member 6 opposite strand
Synonyms 2010007L18Rik, 2400002F02Rik
MMRRC Submission 038262-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # P0005 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 106927349-106937567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106931154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 161 (I161V)
Ref Sequence ENSEMBL: ENSMUSP00000039029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035925]
AlphaFold Q7TPE5
Predicted Effect probably benign
Transcript: ENSMUST00000035925
AA Change: I161V

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039029
Gene: ENSMUSG00000033106
AA Change: I161V

DomainStartEndE-ValueType
Pfam:DUF1762 190 255 9.4e-13 PFAM
low complexity region 271 282 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212150
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212587
Meta Mutation Damage Score 0.2757 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 80.5%
  • 10x: 66.1%
  • 20x: 49.6%
Validation Efficiency 95% (104/109)
Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a1 T C 8: 70,256,397 (GRCm39) V845A possibly damaging Het
Casp6 T C 3: 129,705,792 (GRCm39) V153A probably benign Het
Col6a1 A G 10: 76,553,163 (GRCm39) probably benign Het
Dars2 A G 1: 160,881,509 (GRCm39) probably null Het
Hmgcll1 T A 9: 75,982,041 (GRCm39) M162K possibly damaging Het
Hydin A T 8: 111,220,921 (GRCm39) probably null Het
Ift74 A G 4: 94,550,813 (GRCm39) probably benign Het
Itpr1 A T 6: 108,358,218 (GRCm39) I595F probably damaging Het
Mgat4f T A 1: 134,315,646 (GRCm39) M15K probably benign Het
Mmp17 T C 5: 129,673,695 (GRCm39) V258A probably benign Het
Nek6 T C 2: 38,459,749 (GRCm39) probably null Het
Nomo1 A T 7: 45,686,981 (GRCm39) probably null Het
Nudt3 A G 17: 27,815,689 (GRCm39) probably benign Het
Pramel32 A G 4: 88,546,187 (GRCm39) L385P probably damaging Het
Prkg2 A C 5: 99,117,806 (GRCm39) F512V probably damaging Het
Ptp4a3 T A 15: 73,627,160 (GRCm39) D72E possibly damaging Het
Rpgrip1l A T 8: 92,025,853 (GRCm39) probably benign Het
Rrp9 G A 9: 106,358,376 (GRCm39) R101H probably benign Het
Tex15 T C 8: 34,060,896 (GRCm39) F109L probably benign Het
Tns2 A G 15: 102,022,491 (GRCm39) Q1188R probably damaging Het
Other mutations in Slc7a6os
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0325:Slc7a6os UTSW 8 106,927,688 (GRCm39) missense probably benign
R0331:Slc7a6os UTSW 8 106,937,199 (GRCm39) missense probably damaging 0.99
R1718:Slc7a6os UTSW 8 106,930,971 (GRCm39) missense probably damaging 1.00
R1919:Slc7a6os UTSW 8 106,937,196 (GRCm39) missense probably damaging 1.00
R2433:Slc7a6os UTSW 8 106,931,003 (GRCm39) missense possibly damaging 0.88
R4880:Slc7a6os UTSW 8 106,937,247 (GRCm39) missense probably benign 0.27
R5940:Slc7a6os UTSW 8 106,937,437 (GRCm39) missense probably damaging 0.99
R5988:Slc7a6os UTSW 8 106,928,965 (GRCm39) missense probably benign
R7296:Slc7a6os UTSW 8 106,937,121 (GRCm39) nonsense probably null
R7873:Slc7a6os UTSW 8 106,937,356 (GRCm39) missense probably damaging 1.00
R8821:Slc7a6os UTSW 8 106,937,189 (GRCm39) missense probably benign 0.01
R8831:Slc7a6os UTSW 8 106,937,189 (GRCm39) missense probably benign 0.01
R9762:Slc7a6os UTSW 8 106,937,523 (GRCm39) missense probably damaging 0.97
Posted On 2012-10-05