Incidental Mutation 'R1812:Slc6a21'
ID 202469
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 039840-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1812 (G1)
Quality Score 148
Status Not validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 44932371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 350 (S350R)
Ref Sequence ENSEMBL: ENSMUSP00000147890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect probably damaging
Transcript: ENSMUST00000085364
AA Change: S25R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: S25R

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000176276
AA Change: S350R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: S350R

DomainStartEndE-ValueType
Pfam:SNF 48 631 2e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209886
Predicted Effect unknown
Transcript: ENSMUST00000210207
AA Change: S57R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210733
Predicted Effect probably damaging
Transcript: ENSMUST00000210861
AA Change: S350R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.3%
  • 10x: 93.2%
  • 20x: 85.7%
Validation Efficiency 100% (1/1)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,164,740 (GRCm39) Q545* probably null Het
Aadacl2 T C 3: 59,932,498 (GRCm39) C338R probably damaging Het
Abcb4 G A 5: 8,978,578 (GRCm39) probably null Het
Adam17 T C 12: 21,411,768 (GRCm39) D41G probably damaging Het
Angptl7 T A 4: 148,582,540 (GRCm39) I119F probably damaging Het
Arid1b T A 17: 5,387,304 (GRCm39) S1586T probably benign Het
Arid4b C T 13: 14,370,014 (GRCm39) A1170V probably damaging Het
Atad5 A G 11: 80,023,873 (GRCm39) T1659A probably damaging Het
Bub1b T G 2: 118,462,902 (GRCm39) D754E probably benign Het
Cdkn1a T C 17: 29,317,539 (GRCm39) V53A probably benign Het
Chsy1 T G 7: 65,821,565 (GRCm39) V600G probably benign Het
Cntrl G A 2: 35,039,481 (GRCm39) V561M probably damaging Het
Col6a5 A G 9: 105,805,253 (GRCm39) C1218R unknown Het
Crhr1 T C 11: 104,059,973 (GRCm39) L140P probably damaging Het
Cyb5b CAGAG CAG 8: 107,897,020 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,039,621 (GRCm39) Q298L probably damaging Het
Dctn1 A G 6: 83,169,500 (GRCm39) E638G possibly damaging Het
Ddx41 A G 13: 55,683,767 (GRCm39) I88T probably benign Het
Dennd11 A G 6: 40,386,365 (GRCm39) I288T probably benign Het
Diaph1 G T 18: 38,024,071 (GRCm39) P589Q unknown Het
Dip2b C A 15: 100,096,819 (GRCm39) probably null Het
Dscaml1 G A 9: 45,662,584 (GRCm39) probably null Het
Dync1h1 C T 12: 110,629,334 (GRCm39) A4246V possibly damaging Het
Epb41l1 T C 2: 156,338,431 (GRCm39) I158T probably damaging Het
Fat1 A G 8: 45,489,840 (GRCm39) Y3584C probably damaging Het
Fxyd5 T A 7: 30,737,355 (GRCm39) probably null Het
Gapvd1 T A 2: 34,615,076 (GRCm39) K336* probably null Het
Gm9637 G A 14: 19,402,395 (GRCm38) noncoding transcript Het
Gpr65 C T 12: 98,242,001 (GRCm39) T218M probably damaging Het
Gsdma3 T C 11: 98,523,219 (GRCm39) V203A probably damaging Het
Helb T A 10: 119,925,471 (GRCm39) K969* probably null Het
Hipk2 G A 6: 38,675,098 (GRCm39) A1188V probably benign Het
Itpk1 T A 12: 102,540,317 (GRCm39) E255D probably benign Het
Kif21a T C 15: 90,855,969 (GRCm39) D596G possibly damaging Het
Kif5a A T 10: 127,077,879 (GRCm39) I405N probably benign Het
Klk1b11 T A 7: 43,427,179 (GRCm39) probably null Het
Luzp1 T A 4: 136,269,642 (GRCm39) L622M probably benign Het
Macf1 T A 4: 123,325,817 (GRCm39) I5227F probably damaging Het
Mapk10 A C 5: 103,061,128 (GRCm39) S470A probably damaging Het
Morc2a C T 11: 3,635,831 (GRCm39) T897I probably damaging Het
Nmbr A G 10: 14,636,283 (GRCm39) probably null Het
Nosip T A 7: 44,725,998 (GRCm39) M214K probably damaging Het
Or13c7d G T 4: 43,770,230 (GRCm39) Y260* probably null Het
Or52m2 A T 7: 102,263,577 (GRCm39) N206K possibly damaging Het
Or52r1 T C 7: 102,537,285 (GRCm39) Y25C probably benign Het
Or5w13 A G 2: 87,523,447 (GRCm39) F260L probably benign Het
Pik3c2a A T 7: 116,016,899 (GRCm39) V286E probably damaging Het
Ppfia4 T A 1: 134,252,311 (GRCm39) I388F probably benign Het
Ppm1f A G 16: 16,735,651 (GRCm39) H289R probably damaging Het
Ptprz1 T A 6: 22,959,711 (GRCm39) D69E probably benign Het
Rad54b A T 4: 11,612,770 (GRCm39) T801S probably damaging Het
Ramp1 A T 1: 91,124,579 (GRCm39) N47Y probably damaging Het
Rnf32 T A 5: 29,411,258 (GRCm39) H181Q possibly damaging Het
Rpa2 T C 4: 132,495,996 (GRCm39) F6L probably benign Het
Ryr2 C A 13: 11,575,472 (GRCm39) R4842L probably damaging Het
Scn11a G T 9: 119,609,931 (GRCm39) C972* probably null Het
Setd2 C T 9: 110,379,170 (GRCm39) T995I probably damaging Het
Slc39a7 A G 17: 34,247,789 (GRCm39) L471P probably damaging Het
Slx4ip A G 2: 136,910,115 (GRCm39) N300S probably benign Het
Spef2 G A 15: 9,679,435 (GRCm39) P634L probably damaging Het
Stk32b G A 5: 37,624,102 (GRCm39) A215V probably damaging Het
Svil A T 18: 5,097,545 (GRCm39) Y1676F probably damaging Het
Tanc1 G A 2: 59,622,023 (GRCm39) V381M probably damaging Het
Tanc2 T C 11: 105,777,212 (GRCm39) F797L probably benign Het
Tas2r120 T G 6: 132,634,564 (GRCm39) C215W probably benign Het
Tenm4 G A 7: 96,545,147 (GRCm39) D2388N probably damaging Het
Thsd4 C T 9: 59,964,220 (GRCm39) S64N probably damaging Het
Thsd7b C T 1: 129,686,347 (GRCm39) R630C probably damaging Het
Top3a A G 11: 60,650,188 (GRCm39) I145T probably damaging Het
Vmn2r78 A G 7: 86,569,995 (GRCm39) D171G probably benign Het
Vmn2r82 A G 10: 79,215,046 (GRCm39) E343G probably benign Het
Wdr70 T C 15: 8,108,663 (GRCm39) D161G 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
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
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'- TGGAGGCCATGTTCTCTACTC -3'
(R):5'- ATGCCAACAACTGCTTCCG -3'

Sequencing Primer
(F):5'- TACTCCCTCGGCCTCGG -3'
(R):5'- AGTGGCCAGCAAGCTCTG -3'
Posted On 2014-06-23