Incidental Mutation 'R3751:Slc6a21'
ID 271210
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 040736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R3751 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44929928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 139 (V139I)
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 probably benign
Transcript: ENSMUST00000176276
AA Change: V139I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: V139I

DomainStartEndE-ValueType
Pfam:SNF 48 631 2e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209886
Predicted Effect probably benign
Transcript: ENSMUST00000210207
Predicted Effect probably benign
Transcript: ENSMUST00000210861
AA Change: V139I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 93% (43/46)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik G T 7: 12,289,973 (GRCm39) R183I probably benign Het
BC016579 A T 16: 45,453,361 (GRCm39) probably null Het
BC051665 A T 13: 60,931,145 (GRCm39) F258I probably damaging Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Ccdc125 A G 13: 100,814,459 (GRCm39) D13G possibly damaging Het
Ceacam18 T A 7: 43,291,372 (GRCm39) H271Q probably damaging Het
Cep104 A G 4: 154,066,213 (GRCm39) Y137C probably damaging Het
Clca3a1 A G 3: 144,724,424 (GRCm39) V212A probably benign Het
Clca3a2 A T 3: 144,777,216 (GRCm39) M885K probably benign Het
Col6a4 G T 9: 105,949,313 (GRCm39) T774N probably damaging Het
D430041D05Rik T C 2: 104,085,403 (GRCm39) T1049A possibly damaging Het
Dlk1 A G 12: 109,426,239 (GRCm39) I276V probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Efcab9 T C 11: 32,477,420 (GRCm39) H34R probably benign Het
Erc1 T A 6: 119,801,921 (GRCm39) H32L probably damaging Het
Ezh2 T C 6: 47,532,998 (GRCm39) I141M possibly damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Itpr1 T A 6: 108,326,641 (GRCm39) I121N probably damaging Het
Krtap17-1 A T 11: 99,884,481 (GRCm39) C95* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Man2c1 A G 9: 57,048,058 (GRCm39) Y748C probably damaging Het
Map4 A G 9: 109,867,742 (GRCm39) probably benign Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Mtmr9 A G 14: 63,780,997 (GRCm39) L31P probably damaging Het
Myo5c A G 9: 75,183,284 (GRCm39) Q886R probably damaging Het
Nhsl3 A G 4: 129,118,115 (GRCm39) probably benign Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or6c38 T A 10: 128,929,175 (GRCm39) I223F probably damaging Het
Or7h8 C T 9: 20,124,556 (GRCm39) L304F probably damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pdgfd A T 9: 6,337,447 (GRCm39) probably benign Het
Ppm1k T G 6: 57,501,845 (GRCm39) E106A probably benign Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Rnf214 A C 9: 45,778,901 (GRCm39) I581S probably damaging Het
Scaf11 A G 15: 96,316,417 (GRCm39) V1049A probably damaging Het
Slc51a A G 16: 32,295,292 (GRCm39) L262P probably benign Het
Slc8a3 G T 12: 81,250,912 (GRCm39) L684M probably damaging Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Tnks1bp1 C T 2: 84,889,066 (GRCm39) probably benign Het
Vmn1r189 T C 13: 22,286,382 (GRCm39) T152A probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp366 A G 13: 99,365,352 (GRCm39) Y171C probably damaging 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
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
R6571:Slc6a21 UTSW 7 44,930,303 (GRCm39) missense probably damaging 0.99
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'- CAGTGGCTACGTATGGACAAC -3'
(R):5'- TCTGACCAAAGGCAGGTATTG -3'

Sequencing Primer
(F):5'- GGGCTACTCCAACATACT -3'
(R):5'- GAGGTCCAGACACTTACAGGC -3'
Posted On 2015-03-18