Incidental Mutation 'R6792:Slc6a21'
ID 532646
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 044905-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6792 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 44929309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
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: ENSMUST00000210207
Predicted Effect probably null
Transcript: ENSMUST00000210861
AA Change: M1K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,523,292 (GRCm39) Q1215* probably null Het
Aldh2 C T 5: 121,718,712 (GRCm39) G64R probably damaging Het
Atp11a G A 8: 12,911,939 (GRCm39) probably benign Het
Bcl11b T C 12: 107,955,993 (GRCm39) D52G probably damaging Het
Bltp1 A G 3: 37,065,715 (GRCm39) probably null Het
Capg T A 6: 72,532,537 (GRCm39) I34K possibly damaging Het
Card11 T A 5: 140,899,064 (GRCm39) I37F probably damaging Het
Col27a1 G T 4: 63,235,740 (GRCm39) R724L unknown Het
Cryl1 T C 14: 57,620,224 (GRCm39) E47G probably damaging Het
Dgkb A T 12: 38,150,424 (GRCm39) D70V possibly damaging Het
Dscam T C 16: 96,394,455 (GRCm39) E1949G probably damaging Het
Dscam A G 16: 96,449,437 (GRCm39) V1387A probably damaging Het
Exph5 G A 9: 53,286,617 (GRCm39) V1233M possibly damaging Het
Fat3 A T 9: 16,286,940 (GRCm39) V861E probably damaging Het
Fgfr4 T G 13: 55,304,711 (GRCm39) D184E possibly damaging Het
Fkbp14 G T 6: 54,562,837 (GRCm39) S49* probably null Het
Ginm1 T C 10: 7,649,747 (GRCm39) D182G probably damaging Het
Gk2 T C 5: 97,603,588 (GRCm39) I417V probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Malrd1 C T 2: 16,155,567 (GRCm39) P1992L unknown Het
Mapk6 A T 9: 75,302,830 (GRCm39) I221N probably damaging Het
Mup9 A G 4: 60,377,354 (GRCm39) V65A possibly damaging Het
Myo15b A G 11: 115,775,923 (GRCm39) D805G probably damaging Het
Nup50l T C 6: 96,142,096 (GRCm39) E316G possibly damaging Het
Or52a5b A G 7: 103,417,346 (GRCm39) I86T possibly damaging Het
Or8k35 A T 2: 86,424,283 (GRCm39) D296E probably benign Het
Otof T A 5: 30,532,978 (GRCm39) H1588L probably damaging Het
Pakap A G 4: 57,855,880 (GRCm39) D403G possibly damaging Het
Pde4a A G 9: 21,103,886 (GRCm39) K145R probably benign Het
Pik3ap1 A T 19: 41,310,065 (GRCm39) D418E probably benign Het
Pilrb2 C A 5: 137,866,852 (GRCm39) R217M possibly damaging Het
Plcb2 T C 2: 118,549,922 (GRCm39) N232S probably damaging Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Ppp2r5d A G 17: 47,015,782 (GRCm39) S2P probably benign Het
Prr5l T G 2: 101,547,769 (GRCm39) N252T probably benign Het
Rbmyf5 A G Y: 3,298,867 (GRCm39) Y206H possibly damaging Homo
Rilp A T 11: 75,403,601 (GRCm39) K348* probably null Het
Slc17a7 A G 7: 44,824,299 (GRCm39) E505G possibly damaging Het
Sorcs1 T C 19: 50,666,606 (GRCm39) T101A probably benign Het
Sorl1 A T 9: 42,010,559 (GRCm39) V137E probably damaging Het
Stam2 T C 2: 52,597,993 (GRCm39) I270V probably benign Het
Synj2 G A 17: 6,040,565 (GRCm39) A214T probably benign Het
Tars3 G T 7: 65,312,051 (GRCm39) C321F probably damaging Het
Tcea1 T A 1: 4,962,268 (GRCm39) D229E probably benign Het
Tdrd9 C T 12: 111,993,547 (GRCm39) R692W probably benign Het
Tkfc T C 19: 10,571,888 (GRCm39) T383A probably benign Het
Traf1 T C 2: 34,846,287 (GRCm39) D43G probably benign Het
Tubgcp6 C T 15: 89,007,080 (GRCm39) probably benign Het
Vit A T 17: 78,886,828 (GRCm39) Y152F probably damaging Het
Vmn1r66 A T 7: 10,008,412 (GRCm39) M207K possibly 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
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
R6571:Slc6a21 UTSW 7 44,930,303 (GRCm39) missense probably damaging 0.99
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'- ATGGCCTTTTCCTGAGCATC -3'
(R):5'- GCCACCAGGATTAGGATATTCTCC -3'

Sequencing Primer
(F):5'- AGGACAACTTTCAGGATTCGGTC -3'
(R):5'- CCGTCTTCTTAGCCTGGAAGTG -3'
Posted On 2018-08-29