Incidental Mutation 'R5559:Slc6a21'
ID 436457
Institutional Source Beutler Lab
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Name solute carrier family 6 member 21
Synonyms 1700039E15Rik
MMRRC Submission 043116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R5559 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 44926937-44938422 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44937853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 390 (L390I)
Ref Sequence ENSEMBL: ENSMUSP00000082476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
AlphaFold A0A1B0GSD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000085364
AA Change: L390I

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: L390I

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176276
AA Change: L715I

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: L715I

DomainStartEndE-ValueType
Pfam:SNF 48 631 2e-103 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176985
AA Change: L324I
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: L715I

PolyPhen 2 Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210733
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G T 16: 88,555,981 (GRCm39) R65L unknown Het
Abcc5 A T 16: 20,157,636 (GRCm39) M1307K probably damaging Het
Anapc1 A T 2: 128,522,354 (GRCm39) C129* probably null Het
Brd10 A C 19: 29,694,363 (GRCm39) F1710C possibly damaging Het
Brox A T 1: 183,073,552 (GRCm39) S39R possibly damaging Het
Ccdc168 C G 1: 44,097,675 (GRCm39) R1141T possibly damaging Het
Cd109 T C 9: 78,568,250 (GRCm39) V310A probably benign Het
Chd9 G A 8: 91,742,553 (GRCm39) probably null Het
Chmp2b A T 16: 65,337,316 (GRCm39) I170N probably damaging Het
Cnp G T 11: 100,467,243 (GRCm39) G62V probably damaging Het
Dcp2 C A 18: 44,538,554 (GRCm39) P206T probably damaging Het
Dhx57 A T 17: 80,561,808 (GRCm39) V902E possibly damaging Het
Dmwd G A 7: 18,814,363 (GRCm39) V338M probably damaging Het
Eva1c A G 16: 90,701,139 (GRCm39) D258G probably benign Het
Flvcr2 T A 12: 85,851,181 (GRCm39) F448L probably benign Het
Garin5b A G 7: 4,761,449 (GRCm39) V421A probably damaging Het
Gchfr C T 2: 119,000,187 (GRCm39) H23Y probably benign Het
Helz2 T A 2: 180,871,919 (GRCm39) M2617L probably damaging Het
Ighv5-9-1 A T 12: 113,699,745 (GRCm39) Y122* probably null Het
Lrrtm3 A G 10: 63,766,045 (GRCm39) I514T probably benign Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Obox5 A T 7: 15,491,522 (GRCm39) I21F probably benign Het
Or51f1 C T 7: 102,506,414 (GRCm39) G25D possibly damaging Het
P2rx2 T C 5: 110,488,427 (GRCm39) I376V possibly damaging Het
Poli A G 18: 70,642,356 (GRCm39) S529P probably benign Het
Ruvbl1 T C 6: 88,450,078 (GRCm39) I83T possibly damaging Het
Rwdd2a T C 9: 86,456,483 (GRCm39) S220P probably damaging Het
Serpinb9h T A 13: 33,588,301 (GRCm39) D295E probably benign Het
Sf3b3 A T 8: 111,564,847 (GRCm39) D320E probably benign Het
Smarcd1 T G 15: 99,601,176 (GRCm39) probably null Het
Sp1 T A 15: 102,317,365 (GRCm39) S295T probably benign Het
Tas2r104 T A 6: 131,662,094 (GRCm39) H205L probably damaging Het
Tmem69 C G 4: 116,410,388 (GRCm39) G194A probably damaging Het
Unc5c G T 3: 141,509,548 (GRCm39) C676F probably damaging Het
Unkl A G 17: 25,424,687 (GRCm39) N52S probably benign Het
Vmn1r233 T C 17: 21,214,839 (GRCm39) Y37C possibly damaging Het
Vmn1r57 A G 7: 5,223,898 (GRCm39) N141S probably damaging Het
Vmn2r50 T C 7: 9,771,253 (GRCm39) Y816C probably damaging Het
Vmn2r51 T A 7: 9,826,128 (GRCm39) S540C 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
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
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'- CTTAGAAAAGCCTCTGTCCTCC -3'
(R):5'- CCATCACTGGTTACCGAGAC -3'

Sequencing Primer
(F):5'- TCACGGTGCCCAACAGAGTC -3'
(R):5'- TTACCGAGACCCGACGATGTG -3'
Posted On 2016-10-24