Incidental Mutation 'R6571:Slc6a21'
ID 526236
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 044695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6571 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44930303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 234 (K234R)
Ref Sequence ENSEMBL: ENSMUSP00000147890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect probably benign
Transcript: ENSMUST00000085364
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209886
Predicted Effect probably benign
Transcript: ENSMUST00000210207
Predicted Effect probably damaging
Transcript: ENSMUST00000210861
AA Change: K234R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 94% (31/33)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,216,390 (GRCm39) I161V possibly damaging Het
Adamts12 T C 15: 11,065,187 (GRCm39) F24S probably benign Het
Bche G T 3: 73,608,824 (GRCm39) Q201K probably benign Het
Camsap1 A T 2: 25,829,512 (GRCm39) D757E possibly damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Dab2ip T C 2: 35,602,902 (GRCm39) S399P probably damaging Het
Fbxo40 A T 16: 36,789,668 (GRCm39) C481S probably damaging Het
Fn1 T A 1: 71,665,349 (GRCm39) T923S probably damaging Het
Gm11437 T C 11: 84,047,038 (GRCm39) D147G probably benign Het
Gm5592 A G 7: 40,937,999 (GRCm39) E427G probably damaging Het
Gm6401 T A 14: 41,787,452 (GRCm39) I125F probably damaging Het
Hmcn1 A T 1: 150,491,189 (GRCm39) probably null Het
Inpp4a T C 1: 37,426,839 (GRCm39) M600T probably damaging Het
Itgb6 T C 2: 60,458,800 (GRCm39) E374G probably damaging Het
Lrba A C 3: 86,267,367 (GRCm39) S1686R probably damaging Het
Map3k4 T C 17: 12,461,579 (GRCm39) D1200G possibly damaging Het
Mmp25 T C 17: 23,858,870 (GRCm39) H227R probably benign Het
Or6c38 A C 10: 128,928,990 (GRCm39) N284K probably damaging Het
Papss2 G A 19: 32,629,342 (GRCm39) probably null Het
Rasal2 T A 1: 156,988,749 (GRCm39) R718S possibly damaging Het
Relch A G 1: 105,620,707 (GRCm39) D394G probably benign Het
Rngtt T A 4: 33,379,413 (GRCm39) D438E probably damaging Het
S1pr1 A G 3: 115,505,452 (GRCm39) S381P possibly damaging Het
Septin8 A G 11: 53,427,990 (GRCm39) E268G probably damaging Het
Smg1 A G 7: 117,783,737 (GRCm39) probably benign Het
Sntg1 T C 1: 8,433,752 (GRCm39) probably benign Het
Spag5 G T 11: 78,212,095 (GRCm39) R1041I probably damaging Het
Spata31d1b A T 13: 59,865,269 (GRCm39) M806L probably benign Het
Tnfrsf18 T A 4: 156,112,776 (GRCm39) L154* probably null Het
Trib2 T C 12: 15,844,060 (GRCm39) E194G probably damaging Het
Vmn2r33 A G 7: 7,566,668 (GRCm39) V148A probably benign Het
Wiz G A 17: 32,578,298 (GRCm39) R405W probably damaging Het
Zfp747l1 T C 7: 126,984,310 (GRCm39) probably benign Het
Other mutations in Slc6a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Slc6a21 APN 7 44,937,668 (GRCm39) missense probably benign 0.31
IGL01526:Slc6a21 APN 7 44,937,220 (GRCm39) missense probably damaging 1.00
IGL01670:Slc6a21 APN 7 44,937,557 (GRCm39) missense possibly damaging 0.91
IGL01975:Slc6a21 APN 7 44,937,275 (GRCm39) missense probably benign 0.28
IGL02064:Slc6a21 APN 7 44,935,883 (GRCm39) missense possibly damaging 0.71
IGL02441:Slc6a21 APN 7 44,937,505 (GRCm39) missense probably damaging 1.00
IGL02735:Slc6a21 APN 7 44,936,061 (GRCm39) splice site probably benign
IGL03097:Slc6a21 UTSW 7 44,937,592 (GRCm39) nonsense probably null
R0211:Slc6a21 UTSW 7 44,937,667 (GRCm39) missense possibly damaging 0.90
R0211:Slc6a21 UTSW 7 44,937,667 (GRCm39) missense possibly damaging 0.90
R0269:Slc6a21 UTSW 7 44,936,332 (GRCm39) nonsense probably null
R0336:Slc6a21 UTSW 7 44,935,892 (GRCm39) missense probably damaging 1.00
R1077:Slc6a21 UTSW 7 44,937,626 (GRCm39) missense probably benign 0.42
R1476:Slc6a21 UTSW 7 44,922,052 (GRCm39) missense probably benign 0.09
R1763:Slc6a21 UTSW 7 44,937,158 (GRCm39) nonsense probably null
R1792:Slc6a21 UTSW 7 44,930,155 (GRCm39) missense probably benign 0.04
R1796:Slc6a21 UTSW 7 44,930,179 (GRCm39) missense probably damaging 1.00
R1812:Slc6a21 UTSW 7 44,932,371 (GRCm39) missense probably damaging 1.00
R1868:Slc6a21 UTSW 7 44,937,252 (GRCm39) missense probably benign 0.13
R2121:Slc6a21 UTSW 7 44,937,886 (GRCm39) missense probably benign 0.04
R2129:Slc6a21 UTSW 7 44,932,197 (GRCm39) splice site probably null
R2294:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R2295:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R2409:Slc6a21 UTSW 7 44,929,750 (GRCm39) missense probably benign 0.15
R2858:Slc6a21 UTSW 7 44,929,952 (GRCm39) missense possibly damaging 0.83
R3498:Slc6a21 UTSW 7 44,930,266 (GRCm39) missense probably damaging 1.00
R3751:Slc6a21 UTSW 7 44,929,928 (GRCm39) missense probably benign
R4297:Slc6a21 UTSW 7 44,937,186 (GRCm39) missense possibly damaging 0.95
R4510:Slc6a21 UTSW 7 44,936,713 (GRCm39) missense probably damaging 1.00
R4511:Slc6a21 UTSW 7 44,936,713 (GRCm39) missense probably damaging 1.00
R4876:Slc6a21 UTSW 7 44,929,535 (GRCm39) nonsense probably null
R4921:Slc6a21 UTSW 7 44,937,734 (GRCm39) missense possibly damaging 0.53
R5485:Slc6a21 UTSW 7 44,931,966 (GRCm39) critical splice donor site probably null
R5559:Slc6a21 UTSW 7 44,937,853 (GRCm39) missense possibly damaging 0.61
R6305:Slc6a21 UTSW 7 44,930,028 (GRCm39) missense possibly damaging 0.88
R6390:Slc6a21 UTSW 7 44,936,426 (GRCm39) missense probably benign 0.02
R6792:Slc6a21 UTSW 7 44,929,309 (GRCm39) start codon destroyed probably null 0.02
R7235:Slc6a21 UTSW 7 44,930,182 (GRCm39) missense probably damaging 0.99
R7278:Slc6a21 UTSW 7 44,931,904 (GRCm39) missense possibly damaging 0.84
R7808:Slc6a21 UTSW 7 44,932,360 (GRCm39) missense
R9047:Slc6a21 UTSW 7 44,936,398 (GRCm39) missense
R9127:Slc6a21 UTSW 7 44,929,674 (GRCm39) splice site probably benign
R9299:Slc6a21 UTSW 7 44,937,130 (GRCm39) missense
R9524:Slc6a21 UTSW 7 44,937,785 (GRCm39) missense probably benign
R9640:Slc6a21 UTSW 7 44,937,189 (GRCm39) missense
R9748:Slc6a21 UTSW 7 44,929,941 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGTGTCTGGACCTCCCTAC -3'
(R):5'- TGCGCATATTAACGTGCACG -3'

Sequencing Primer
(F):5'- TACCCTCCTCAGCAGGC -3'
(R):5'- TGCACGTGGTAAAGCCTG -3'
Posted On 2018-06-22