Incidental Mutation 'R1796:Slc6a21'
ID 202258
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 039826-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R1796 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44930179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 193 (Y193H)
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 damaging
Transcript: ENSMUST00000176276
AA Change: Y193H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: Y193H

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 damaging
Transcript: ENSMUST00000210861
AA Change: Y193H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,662,156 (GRCm39) S30F probably benign Het
Abtb1 T C 6: 88,813,601 (GRCm39) D379G possibly damaging Het
Adgre1 A G 17: 57,748,350 (GRCm39) I517V probably benign Het
Ajm1 C T 2: 25,468,000 (GRCm39) G637D probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Angpt4 G A 2: 151,780,909 (GRCm39) V386M probably damaging Het
Asic1 A G 15: 99,594,535 (GRCm39) H360R probably null Het
Asxl1 G A 2: 153,243,526 (GRCm39) A1359T probably benign Het
Atp8a2 C T 14: 60,258,207 (GRCm39) probably null Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
C1qtnf2 T A 11: 43,382,114 (GRCm39) F279I probably damaging Het
Car8 A T 4: 8,221,671 (GRCm39) L100* probably null Het
Cd52 T C 4: 133,822,295 (GRCm39) M1V probably null Het
Celf5 T C 10: 81,303,053 (GRCm39) I163V possibly damaging Het
Cep250 A T 2: 155,834,107 (GRCm39) T2010S possibly damaging Het
Cfap65 C T 1: 74,958,107 (GRCm39) V934M probably damaging Het
Colec11 A T 12: 28,644,858 (GRCm39) I212N probably damaging Het
Cpa3 C T 3: 20,277,391 (GRCm39) probably null Het
Ctnnd1 G T 2: 84,445,553 (GRCm39) H495N probably damaging Het
Cyb5a T C 18: 84,869,686 (GRCm39) V28A probably benign Het
Ddo A T 10: 40,523,625 (GRCm39) Q205L probably benign Het
Dnah1 T A 14: 30,983,050 (GRCm39) N4195I probably benign Het
E2f1 A T 2: 154,402,849 (GRCm39) V306E probably benign Het
Ece1 C T 4: 137,685,312 (GRCm39) R601W probably damaging Het
Eef1d A C 15: 75,773,024 (GRCm39) F25C probably damaging Het
Ehd3 A T 17: 74,137,354 (GRCm39) I508F probably damaging Het
Eml6 T A 11: 29,831,975 (GRCm39) I232F probably benign Het
Enc1 T A 13: 97,382,991 (GRCm39) D500E probably benign Het
Enc1 C A 13: 97,382,993 (GRCm39) T501K possibly damaging Het
Fam83f C T 15: 80,574,283 (GRCm39) R213W possibly damaging Het
Fbxo31 A T 8: 122,287,177 (GRCm39) L158* probably null Het
Fcgbpl1 C T 7: 27,854,797 (GRCm39) P1808S probably damaging Het
Foxi3 C A 6: 70,937,794 (GRCm39) T342N possibly damaging Het
Gpr179 T A 11: 97,227,382 (GRCm39) D1591V possibly damaging Het
Gpsm2 A G 3: 108,609,166 (GRCm39) V151A probably damaging Het
Grk2 T G 19: 4,337,968 (GRCm39) I513L probably benign Het
H2-Ab1 A G 17: 34,486,346 (GRCm39) E135G probably damaging Het
Herc1 A T 9: 66,296,138 (GRCm39) K578* probably null Het
Hycc1 T G 5: 24,191,149 (GRCm39) T173P probably damaging Het
Itpr2 T C 6: 146,198,171 (GRCm39) N1533S probably benign Het
Kif3c A G 12: 3,417,299 (GRCm39) N440S probably benign Het
Klhdc2 T C 12: 69,347,071 (GRCm39) probably null Het
Kmo G T 1: 175,465,461 (GRCm39) V72L probably benign Het
Krt71 A G 15: 101,651,315 (GRCm39) I56T possibly damaging Het
Krt72 T C 15: 101,689,987 (GRCm39) probably null Het
Krt78 T A 15: 101,859,300 (GRCm39) Q299L probably damaging Het
Loxhd1 C T 18: 77,493,603 (GRCm39) R1521C probably damaging Het
Loxhd1 G A 18: 77,513,335 (GRCm39) E1774K possibly damaging Het
Ly6g6f T C 17: 35,302,478 (GRCm39) S20G probably benign Het
Mecr T A 4: 131,592,382 (GRCm39) M282K probably damaging Het
Mfsd14a G T 3: 116,428,596 (GRCm39) A353D probably damaging Het
Mroh9 A T 1: 162,873,279 (GRCm39) N564K probably damaging Het
Mrs2 T A 13: 25,181,111 (GRCm39) T237S possibly damaging Het
Mycbpap A G 11: 94,398,377 (GRCm39) L534S probably damaging Het
Myh1 T C 11: 67,115,183 (GRCm39) I1906T probably benign Het
Myh4 T A 11: 67,151,150 (GRCm39) V1935D probably benign Het
Myo18a T C 11: 77,720,170 (GRCm39) I684T possibly damaging Het
Myo7b C T 18: 32,119,728 (GRCm39) R788H possibly damaging Het
Nbea A T 3: 55,551,129 (GRCm39) D2678E possibly damaging Het
Ndufs3 A C 2: 90,729,050 (GRCm39) Y145* probably null Het
Nrros A G 16: 31,962,329 (GRCm39) F563L probably damaging Het
Ntn4 T C 10: 93,581,633 (GRCm39) V602A probably damaging Het
Obscn C A 11: 58,920,163 (GRCm39) R6736L possibly damaging Het
Odr4 T C 1: 150,251,305 (GRCm39) N283S probably benign Het
Or13c7d T A 4: 43,770,495 (GRCm39) D172V possibly damaging Het
Or2ag16 T C 7: 106,351,756 (GRCm39) I280V probably benign Het
Or7g22 C A 9: 19,049,213 (GRCm39) T308K probably benign Het
Or8d1 T A 9: 38,766,820 (GRCm39) V154D probably benign Het
Or8g54 C T 9: 39,707,301 (GRCm39) P210L possibly damaging Het
Or8g55 A G 9: 39,785,267 (GRCm39) E232G probably benign Het
Pik3cd A G 4: 149,738,576 (GRCm39) F751L possibly damaging Het
Plekhh2 A G 17: 84,906,561 (GRCm39) probably null Het
Postn A G 3: 54,281,177 (GRCm39) H434R probably damaging Het
Prss39 A G 1: 34,539,114 (GRCm39) D118G possibly damaging Het
Ralyl G T 3: 14,208,493 (GRCm39) G211V possibly damaging Het
Rbak T A 5: 143,159,202 (GRCm39) E617V probably damaging Het
Rbms3 A T 9: 116,548,401 (GRCm39) W80R probably damaging Het
Retnlg A T 16: 48,694,610 (GRCm39) Y86F probably benign Het
Rtel1 T A 2: 180,993,896 (GRCm39) S643T probably benign Het
Semp2l2a A T 8: 13,886,816 (GRCm39) L425* probably null Het
Serpina11 A T 12: 103,950,954 (GRCm39) F256I probably damaging Het
Setd2 A T 9: 110,379,413 (GRCm39) Y1076F probably benign Het
Setd2 A T 9: 110,446,884 (GRCm39) probably null Het
Sgsm1 T C 5: 113,421,483 (GRCm39) T248A possibly damaging Het
Slfn9 T C 11: 82,872,781 (GRCm39) K652E probably benign Het
Stt3b A T 9: 115,077,675 (GRCm39) Y692* probably null Het
Sval3 A G 6: 41,945,096 (GRCm39) Q8R probably benign Het
Synm T A 7: 67,383,748 (GRCm39) I1305F possibly damaging Het
Tdrd1 T C 19: 56,826,215 (GRCm39) F169L probably damaging Het
Tecta T A 9: 42,295,493 (GRCm39) D334V probably damaging Het
Tle2 G A 10: 81,425,331 (GRCm39) probably null Het
Tmem243 A G 5: 9,166,489 (GRCm39) I30V probably benign Het
Treml2 T C 17: 48,616,530 (GRCm39) *330R probably null Het
Trpm6 A G 19: 18,804,931 (GRCm39) D961G possibly damaging Het
Ubr4 T C 4: 139,155,907 (GRCm39) V2244A probably benign Het
Unc79 G T 12: 103,109,005 (GRCm39) V2148F probably damaging Het
Ush2a A C 1: 188,643,024 (GRCm39) T4129P probably benign Het
Vgll2 G A 10: 51,901,324 (GRCm39) V85I probably damaging Het
Vmn1r16 T C 6: 57,300,256 (GRCm39) Y122C probably benign Het
Vmn1r22 A T 6: 57,877,134 (GRCm39) I91N probably damaging Het
Vmn2r70 A T 7: 85,213,011 (GRCm39) Y465* probably null Het
Wdr64 A T 1: 175,544,897 (GRCm39) E110V probably damaging Het
Wfdc6a A T 2: 164,422,231 (GRCm39) C123S probably damaging Het
Xrcc1 A G 7: 24,247,252 (GRCm39) Y30C probably damaging Het
Zdhhc7 T C 8: 120,812,157 (GRCm39) K155R probably benign Het
Zfp560 A G 9: 20,263,226 (GRCm39) F50S possibly damaging Het
Zfp616 C T 11: 73,976,671 (GRCm39) T980I probably damaging Het
Zfp808 C T 13: 62,319,670 (GRCm39) P300S probably damaging Het
Zfp979 G A 4: 147,697,740 (GRCm39) T323I 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
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
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'- TTGGCCAGTCCTTCGATTAC -3'
(R):5'- ATGGAACTTCTGCTGGGGAC -3'

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