Incidental Mutation 'R8831:Slc7a6os'
ID 673834
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 068659-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R8831 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106927349-106937567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106937189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 90 (D90E)
Ref Sequence ENSEMBL: ENSMUSP00000039029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035925] [ENSMUST00000071592] [ENSMUST00000109296] [ENSMUST00000109297]
AlphaFold Q7TPE5
Predicted Effect probably benign
Transcript: ENSMUST00000035925
AA Change: D90E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000039029
Gene: ENSMUSG00000033106
AA Change: D90E

DomainStartEndE-ValueType
Pfam:DUF1762 190 255 9.4e-13 PFAM
low complexity region 271 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071592
SMART Domains Protein: ENSMUSP00000071521
Gene: ENSMUSG00000060098

DomainStartEndE-ValueType
Pfam:PrmA 53 148 1.6e-7 PFAM
internal_repeat_1 382 652 1.71e-8 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000109296
SMART Domains Protein: ENSMUSP00000104919
Gene: ENSMUSG00000060098

DomainStartEndE-ValueType
Pfam:PrmA 6 113 5.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109297
SMART Domains Protein: ENSMUSP00000104920
Gene: ENSMUSG00000060098

DomainStartEndE-ValueType
Pfam:PrmA 51 148 1.5e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128201
SMART Domains Protein: ENSMUSP00000119992
Gene: ENSMUSG00000060098

DomainStartEndE-ValueType
Pfam:PrmA 37 132 3.2e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
Allele List at MGI

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

Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A T 8: 12,329,688 (GRCm39) I48L unknown Het
Abcc3 A C 11: 94,241,787 (GRCm39) C1415G probably damaging Het
Abcf3 C T 16: 20,369,214 (GRCm39) R205C probably damaging Het
Abcg5 G T 17: 84,976,423 (GRCm39) H471Q probably damaging Het
Actl6b G A 5: 137,565,305 (GRCm39) R363Q probably damaging Het
Adcy1 T A 11: 7,111,362 (GRCm39) D884E probably benign Het
Aldh3a1 A G 11: 61,107,142 (GRCm39) Y282C probably damaging Het
Amdhd2 A G 17: 24,376,712 (GRCm39) probably null Het
Arfgef3 A G 10: 18,528,491 (GRCm39) S299P possibly damaging Het
Asic2 A T 11: 81,858,726 (GRCm39) N95K probably damaging Het
Atp2c2 A G 8: 120,476,033 (GRCm39) probably null Het
Atrn T C 2: 130,748,521 (GRCm39) L14P probably benign Het
C8b A G 4: 104,647,874 (GRCm39) Y355C probably damaging Het
Carm1 A G 9: 21,491,663 (GRCm39) E244G probably damaging Het
Cd300c2 A T 11: 114,891,844 (GRCm39) C39* probably null Het
Cish T A 9: 107,177,671 (GRCm39) F116I probably damaging Het
Clstn1 G A 4: 149,730,780 (GRCm39) R837Q probably benign Het
Cox10 A G 11: 63,855,306 (GRCm39) F325S probably damaging Het
Cplane1 T C 15: 8,211,620 (GRCm39) I320T probably benign Het
Ctps1 A T 4: 120,424,507 (GRCm39) S36T possibly damaging Het
Dchs2 T C 3: 83,192,670 (GRCm39) L1705P probably benign Het
Defb25 C A 2: 152,464,899 (GRCm39) V17L probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dhx30 A G 9: 109,917,319 (GRCm39) S399P probably benign Het
Dhx58 T A 11: 100,594,806 (GRCm39) K30M probably damaging Het
Drc7 G A 8: 95,788,845 (GRCm39) R301Q probably damaging Het
Dsg1a T C 18: 20,453,365 (GRCm39) V21A probably damaging Het
Ercc6 T A 14: 32,282,784 (GRCm39) probably null Het
Fam193a A G 5: 34,616,374 (GRCm39) T850A probably benign Het
Fgf10 A G 13: 118,925,671 (GRCm39) D150G probably damaging Het
Flii A T 11: 60,616,074 (GRCm39) N28K probably benign Het
Gfi1 G A 5: 107,868,138 (GRCm39) R377C probably damaging Het
Gfra2 A T 14: 71,204,503 (GRCm39) N324I probably benign Het
Gm10308 A G 17: 91,396,431 (GRCm39) R118G unknown Het
Gm10801 T A 2: 98,494,334 (GRCm39) V137E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Hsd3b9 A T 3: 98,354,047 (GRCm39) W151R probably benign Het
Ift80 G A 3: 68,869,583 (GRCm39) A236V probably damaging Het
Il1rn A T 2: 24,239,505 (GRCm39) T134S possibly damaging Het
Il6st G T 13: 112,640,914 (GRCm39) D897Y probably damaging Het
Imp4 T C 1: 34,483,445 (GRCm39) M257T probably benign Het
Impdh2 T C 9: 108,441,957 (GRCm39) L377S probably damaging Het
Kdm1b C A 13: 47,217,617 (GRCm39) L359I possibly damaging Het
Kidins220 A T 12: 25,086,454 (GRCm39) I963L possibly damaging Het
Mdm4 T C 1: 132,931,601 (GRCm39) R148G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Ncor1 A T 11: 62,260,234 (GRCm39) D505E probably benign Het
Necab3 A T 2: 154,396,607 (GRCm39) L107Q probably damaging Het
Nkx2-4 G A 2: 146,927,114 (GRCm39) P51L probably benign Het
Nol11 T C 11: 107,067,662 (GRCm39) T388A probably benign Het
Npc1 T A 18: 12,333,877 (GRCm39) M735L probably benign Het
Nr1h3 C A 2: 91,021,091 (GRCm39) R232L probably benign Het
Nrcam T A 12: 44,591,680 (GRCm39) probably null Het
Or1j13 G A 2: 36,369,794 (GRCm39) T116I possibly damaging Het
Or52s1b T A 7: 102,822,203 (GRCm39) I214L probably benign Het
Pabpn1 T C 14: 55,131,914 (GRCm39) V101A probably damaging Het
Pcare A T 17: 72,059,305 (GRCm39) V124E probably benign Het
Pcbp2 A G 15: 102,394,453 (GRCm39) D217G probably benign Het
Pcdhb12 A G 18: 37,570,386 (GRCm39) M511V probably benign Het
Phf3 T A 1: 30,860,347 (GRCm39) K828* probably null Het
Plcg1 G C 2: 160,589,732 (GRCm39) K85N probably benign Het
Prag1 A T 8: 36,613,891 (GRCm39) T1148S probably benign Het
Prmt3 A G 7: 49,478,729 (GRCm39) E430G probably null Het
Prx G T 7: 27,217,538 (GRCm39) V819F probably damaging Het
Ptpn18 A T 1: 34,511,271 (GRCm39) R338W probably null Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rgs2 T C 1: 143,877,497 (GRCm39) Y186C probably damaging Het
Rhbdl1 C T 17: 26,053,857 (GRCm39) V342M probably damaging Het
Rpn1 A G 6: 88,061,775 (GRCm39) Q88R probably benign Het
Slc19a2 C T 1: 164,084,443 (GRCm39) T111M probably damaging Het
Slc35e4 G A 11: 3,863,087 (GRCm39) P34L possibly damaging Het
Ssh3 A G 19: 4,319,053 (GRCm39) V19A possibly damaging Het
Susd1 C T 4: 59,379,594 (GRCm39) probably benign Het
Tcf19 A T 17: 35,825,794 (GRCm39) M121K possibly damaging Het
Tcp11 G A 17: 28,299,193 (GRCm39) R21C probably damaging Het
Tcp11l2 A G 10: 84,449,522 (GRCm39) I496V probably damaging Het
Tenm3 C T 8: 48,729,417 (GRCm39) A1530T Het
Tmem127 T A 2: 127,098,979 (GRCm39) V171D probably damaging Het
Tyrp1 G A 4: 80,753,399 (GRCm39) C30Y probably damaging Het
Usp48 A T 4: 137,341,080 (GRCm39) D360V probably damaging Het
Vamp4 T A 1: 162,401,952 (GRCm39) D11E possibly damaging Het
Vmn1r14 T C 6: 57,210,505 (GRCm39) F28L probably benign Het
Vmn2r69 G T 7: 85,059,018 (GRCm39) C514* probably null Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Zfp1007 A T 5: 109,824,174 (GRCm39) S425R probably benign Het
Zhx3 T A 2: 160,622,691 (GRCm39) Y492F probably benign Het
Other mutations in Slc7a6os
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0005:Slc7a6os UTSW 8 106,931,154 (GRCm39) missense probably benign 0.26
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
R9762:Slc7a6os UTSW 8 106,937,523 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATACAGTACTCACTTTGCGGCAG -3'
(R):5'- GTCTTCCAGTTGGTTGCCAC -3'

Sequencing Primer
(F):5'- CACTTTGCGGCAGTCGGTG -3'
(R):5'- ACCGTGCGATCCCAGGTATG -3'
Posted On 2021-07-15