Incidental Mutation 'R0211:Slc6a21'
ID 35529
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 038462-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R0211 (G1)
Quality Score 148
Status Not validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 44937667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 653 (T653P)
Ref Sequence ENSEMBL: ENSMUSP00000147890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000085364
AA Change: T328P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: T328P

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176276
AA Change: T653P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: T653P

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 noncoding transcript
Transcript: ENSMUST00000210733
Predicted Effect possibly damaging
Transcript: ENSMUST00000210861
AA Change: T653P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.0%
  • 10x: 94.6%
  • 20x: 89.0%
Validation Efficiency 100% (1/1)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,262,870 (GRCm39) L1401P possibly damaging Het
4930503B20Rik C T 3: 146,356,251 (GRCm39) R219H probably benign Het
Abcc9 T A 6: 142,634,710 (GRCm39) I185F probably benign Het
Adgrf1 T C 17: 43,607,581 (GRCm39) L100P probably damaging Het
Akt1 T C 12: 112,621,576 (GRCm39) T407A probably damaging Het
Alk C T 17: 72,910,511 (GRCm39) R65H probably damaging Het
Aplp2 T C 9: 31,069,086 (GRCm39) E525G probably damaging Het
Arhgef12 G A 9: 42,883,300 (GRCm39) R1411C probably damaging Het
Arnt T A 3: 95,383,460 (GRCm39) M242K probably damaging Het
Atad5 T G 11: 79,986,473 (GRCm39) V520G probably benign Het
Avpr1a T A 10: 122,285,374 (GRCm39) M222K possibly damaging Het
Cbr2 T A 11: 120,621,614 (GRCm39) I88L probably benign Het
Cc2d2a T A 5: 43,845,608 (GRCm39) probably null Het
Ccdc51 T C 9: 108,918,441 (GRCm39) M10T probably benign Het
Cntnap5b T A 1: 100,406,099 (GRCm39) D1136E possibly damaging Het
Coil T A 11: 88,872,979 (GRCm39) S447T probably damaging Het
Cryba1 T A 11: 77,609,693 (GRCm39) Y179F probably damaging Het
Dcaf4 T A 12: 83,582,735 (GRCm39) F277I probably damaging Het
Ddost G A 4: 138,036,913 (GRCm39) V159M probably damaging Het
Dnaaf4 A T 9: 72,868,649 (GRCm39) R127S possibly damaging Het
Dnajb6 T C 5: 29,990,077 (GRCm39) probably benign Het
Dnase2a A G 8: 85,635,417 (GRCm39) probably benign Het
Dscam T C 16: 96,517,279 (GRCm39) I877V possibly damaging Het
Efcc1 A T 6: 87,726,136 (GRCm39) T312S probably benign Het
Elp1 T A 4: 56,795,545 (GRCm39) I143F probably damaging Het
Ermard A T 17: 15,242,205 (GRCm39) Q127L probably damaging Het
F2 T C 2: 91,460,503 (GRCm39) E329G probably damaging Het
Foxc2 T A 8: 121,843,355 (GRCm39) M1K probably null Het
Fuz T A 7: 44,548,446 (GRCm39) probably null Het
Ggnbp2 G A 11: 84,731,139 (GRCm39) T325M probably damaging Het
Gm6408 T A 5: 146,419,870 (GRCm39) F115I probably benign Het
Gp6 C T 7: 4,376,208 (GRCm39) probably null Het
Grin2a A G 16: 9,397,037 (GRCm39) S1017P possibly damaging Het
H2-T5 T C 17: 36,478,899 (GRCm39) T117A probably damaging Het
Hmmr A T 11: 40,605,635 (GRCm39) M318K probably damaging Het
Ifi205 T C 1: 173,855,994 (GRCm39) E12G probably benign Het
Ift74 C T 4: 94,567,492 (GRCm39) T395I probably benign Het
Irf8 A T 8: 121,466,714 (GRCm39) D53V probably damaging Het
Itgad A G 7: 127,803,813 (GRCm39) Y69C probably damaging Het
Itpr2 C A 6: 146,096,111 (GRCm39) R2084L probably benign Het
Krt4 C A 15: 101,831,217 (GRCm39) S228I possibly damaging Het
Lpin3 A T 2: 160,740,601 (GRCm39) D382V probably damaging Het
Ltbp3 T C 19: 5,802,171 (GRCm39) probably null Het
Map4k3 C T 17: 80,952,270 (GRCm39) A179T probably damaging Het
Nck1 A T 9: 100,379,820 (GRCm39) W144R probably damaging Het
Ndufb9 A T 15: 58,811,131 (GRCm39) Q139L possibly damaging Het
Ngfr T G 11: 95,462,738 (GRCm39) E300A probably damaging Het
Nin T G 12: 70,061,649 (GRCm39) T2072P probably damaging Het
Nop2 T G 6: 125,118,307 (GRCm39) L529R probably damaging Het
Nrm T A 17: 36,175,503 (GRCm39) L203Q probably damaging Het
Nynrin T C 14: 56,109,255 (GRCm39) F1454S probably benign Het
Or10ak7 T A 4: 118,791,467 (GRCm39) M191L probably benign Het
Or5b101 T C 19: 13,005,646 (GRCm39) T16A possibly damaging Het
Or8j3c A C 2: 86,253,451 (GRCm39) S190A probably damaging Het
Os9 A G 10: 126,956,905 (GRCm39) V27A probably damaging Het
Osbpl9 T G 4: 108,930,321 (GRCm39) T332P probably damaging Het
Pcdhb10 A T 18: 37,547,059 (GRCm39) M712L probably benign Het
Pcx C T 19: 4,670,227 (GRCm39) A935V probably damaging Het
Pdzd7 A G 19: 45,022,106 (GRCm39) V514A possibly damaging Het
Plin4 C T 17: 56,409,242 (GRCm39) G1326D probably damaging Het
Plxnb1 T A 9: 108,932,731 (GRCm39) Y568* probably null Het
Pmfbp1 T A 8: 110,268,372 (GRCm39) V973D probably benign Het
Ppp2r1b T C 9: 50,772,925 (GRCm39) V70A probably benign Het
Prkar2b C A 12: 32,022,183 (GRCm39) V201L probably benign Het
Rgr T G 14: 36,768,925 (GRCm39) T37P probably damaging Het
Ripk3 A T 14: 56,025,375 (GRCm39) L63Q probably damaging Het
Rpusd2 A G 2: 118,868,893 (GRCm39) S439G probably benign Het
Serac1 T A 17: 6,100,335 (GRCm39) R438S possibly damaging Het
Slc19a1 T A 10: 76,874,300 (GRCm39) S24T possibly damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Spdef C T 17: 27,933,894 (GRCm39) R309H probably damaging Het
Srp68 A T 11: 116,156,377 (GRCm39) Y84N probably damaging Het
Syne2 A T 12: 76,144,731 (GRCm39) Q6299L probably damaging Het
Tmem63b T A 17: 45,972,839 (GRCm39) M652L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnk1 A G 11: 69,746,007 (GRCm39) V306A probably damaging Het
Tnnc2 T A 2: 164,619,404 (GRCm39) I147F probably damaging Het
Tnni3k C T 3: 154,760,981 (GRCm39) probably benign Het
Togaram2 T A 17: 72,036,243 (GRCm39) V911D probably damaging Het
Tyw3 T C 3: 154,293,132 (GRCm39) N181S probably damaging Het
Unc79 T A 12: 103,039,051 (GRCm39) S682T probably benign Het
Vps13d A G 4: 144,841,348 (GRCm39) L2634S probably benign Het
Wasl G T 6: 24,633,892 (GRCm39) A124E probably damaging Het
Zfp287 T C 11: 62,605,743 (GRCm39) H388R probably damaging Het
Zfp335 T C 2: 164,749,612 (GRCm39) T262A probably damaging Het
Zfp457 C G 13: 67,441,211 (GRCm39) G359R probably benign Het
Zfp536 T A 7: 37,267,874 (GRCm39) E514V probably damaging Het
Zfp872 T A 9: 22,111,469 (GRCm39) I316N 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
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
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'- TGGAATGATAGCATGGTGCGGC -3'
(R):5'- TGTACTTTGACACCTCATGGATGGC -3'

Sequencing Primer
(F):5'- CTGTCCCCAGAGCCATGAAG -3'
(R):5'- TGGCATCGGGCAAGCTG -3'
Posted On 2013-05-09