Incidental Mutation 'R8821:Slc7a6os'
ID 673049
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 068654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R8821 (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: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (74/74)
Allele List at MGI

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

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik A T 8: 12,329,688 (GRCm39) I48L unknown Het
Abca8a A T 11: 109,949,362 (GRCm39) I927K probably damaging 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
Aldh3a1 A G 11: 61,107,142 (GRCm39) Y282C probably damaging Het
Alyref CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG CCCGCG 11: 120,489,023 (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
Btbd18 A G 2: 84,497,601 (GRCm39) D413G probably damaging 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
Castor2 T A 5: 134,164,092 (GRCm39) V96E possibly damaging Het
Catsperg1 A T 7: 28,904,361 (GRCm39) probably benign Het
Cish T A 9: 107,177,671 (GRCm39) F116I probably damaging Het
Ckmt1 G A 2: 121,191,302 (GRCm39) probably benign Het
Clasrp C T 7: 19,320,362 (GRCm39) R432H unknown Het
Clstn1 G A 4: 149,730,780 (GRCm39) R837Q probably benign Het
Col27a1 A G 4: 63,143,148 (GRCm39) T279A probably benign Het
Cox10 A G 11: 63,855,306 (GRCm39) F325S probably damaging Het
Cpne5 T C 17: 29,430,668 (GRCm39) I81V 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
Dcstamp A G 15: 39,618,185 (GRCm39) H198R probably benign Het
Dhx58 T A 11: 100,594,806 (GRCm39) K30M probably damaging Het
Dnah1 C T 14: 31,018,455 (GRCm39) A1392T probably benign Het
Dnah14 C A 1: 181,619,569 (GRCm39) Y3964* probably null Het
Dnah8 T C 17: 31,013,712 (GRCm39) S3818P probably damaging Het
Dnmt3b T A 2: 153,518,734 (GRCm39) N632K probably benign 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
Dtd1 T C 2: 144,459,261 (GRCm39) L95P probably benign Het
Efhb A T 17: 53,707,772 (GRCm39) probably benign Het
Fam186b T A 15: 99,178,733 (GRCm39) M198L possibly damaging Het
Fam193a A G 5: 34,616,374 (GRCm39) T850A probably benign Het
Fan1 G A 7: 64,004,249 (GRCm39) P739L probably damaging Het
Flii A T 11: 60,616,074 (GRCm39) N28K probably benign Het
Fmo3 T C 1: 162,796,407 (GRCm39) Y55C probably damaging Het
Gfi1 G A 5: 107,868,138 (GRCm39) R377C probably damaging Het
Gm9195 C T 14: 72,717,536 (GRCm39) E266K possibly damaging Het
Hdac1-ps T A 17: 78,799,969 (GRCm39) L320Q probably damaging Het
Helz A T 11: 107,525,919 (GRCm39) M825L 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
Imp4 T C 1: 34,483,445 (GRCm39) M257T probably benign Het
Impdh2 T C 9: 108,441,957 (GRCm39) L377S probably damaging Het
Kcnrg T C 14: 61,844,981 (GRCm39) V7A possibly damaging Het
Kdm1b C A 13: 47,217,617 (GRCm39) L359I possibly damaging Het
Lima1 T A 15: 99,704,306 (GRCm39) T288S probably benign Het
Lrrc37 A T 11: 103,510,470 (GRCm39) D499E unknown Het
Lrrc4c A T 2: 97,460,040 (GRCm39) D222V possibly damaging Het
Mybpc3 T A 2: 90,948,524 (GRCm39) V4E probably null Het
Ncor1 A T 11: 62,260,234 (GRCm39) D505E probably benign Het
Nell1 A G 7: 50,476,097 (GRCm39) S579G probably damaging Het
Npc1 T A 18: 12,333,877 (GRCm39) M735L probably benign Het
Or1j13 G A 2: 36,369,794 (GRCm39) T116I possibly damaging Het
Or2at4 A G 7: 99,384,893 (GRCm39) H181R possibly damaging Het
Or4a73 A G 2: 89,420,880 (GRCm39) I193T probably damaging Het
Pcdhb12 A G 18: 37,570,386 (GRCm39) M511V probably benign Het
Peli2 G A 14: 48,490,130 (GRCm39) E201K possibly damaging Het
Phf3 T A 1: 30,860,347 (GRCm39) K828* probably null Het
Pih1d1 A G 7: 44,806,196 (GRCm39) D44G possibly damaging Het
Prag1 A T 8: 36,613,891 (GRCm39) T1148S probably benign Het
Ptpn18 A T 1: 34,511,271 (GRCm39) R338W probably null Het
Sp7 T A 15: 102,267,227 (GRCm39) H211L possibly damaging Het
Ssh3 A G 19: 4,319,053 (GRCm39) V19A possibly damaging Het
Tcp11l2 A G 10: 84,449,522 (GRCm39) I496V probably damaging Het
Tenm3 C T 8: 48,729,417 (GRCm39) A1530T Het
Tmem232 A G 17: 65,743,367 (GRCm39) L308P probably damaging Het
Tulp4 A G 17: 6,189,409 (GRCm39) N77S probably damaging Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Usp48 A T 4: 137,341,080 (GRCm39) D360V probably damaging 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
Zfp512b T C 2: 181,228,525 (GRCm39) N738S 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
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
Predicted Primers PCR Primer
(F):5'- AGTACTCACTTTGCGGCAGTC -3'
(R):5'- AAATGTCTTCCAGTTGGTTGC -3'

Sequencing Primer
(F):5'- CAGTCGGTGGCAGCAGC -3'
(R):5'- TTGCCACCGTGCGATCC -3'
Posted On 2021-04-30