Incidental Mutation 'IGL02064:Slc6a21'
ID185563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc6a21
Ensembl Gene ENSMUSG00000070568
Gene Namesolute carrier family 6 member 21
Synonyms1700039E15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #IGL02064
Quality Score
Status
Chromosome7
Chromosomal Location45277513-45288998 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45286459 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 38 (I38N)
Ref Sequence ENSEMBL: ENSMUSP00000082476 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085364] [ENSMUST00000210861]
Predicted Effect possibly damaging
Transcript: ENSMUST00000085364
AA Change: I38N

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000082476
Gene: ENSMUSG00000070568
AA Change: I38N

DomainStartEndE-ValueType
Pfam:SNF 1 306 8.3e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000176276
AA Change: I363N

PolyPhen 2 Score 0.490 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135707
Gene: ENSMUSG00000070568
AA Change: I363N

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: I70N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210733
Predicted Effect possibly damaging
Transcript: ENSMUST00000210861
AA Change: I363N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732456N10Rik T C 15: 101,562,653 H58R possibly damaging Het
Acap2 A C 16: 31,127,328 W284G probably damaging Het
Acsf3 T C 8: 122,780,247 L93P possibly damaging Het
Agbl2 G T 2: 90,784,024 probably benign Het
Arap3 C T 18: 37,991,701 G242D probably damaging Het
Asxl3 G A 18: 22,524,344 V1804I possibly damaging Het
BC025446 A G 15: 75,221,656 probably benign Het
Bnc1 C A 7: 81,973,503 V659L probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Car9 A G 4: 43,507,363 E103G probably benign Het
Chrm4 A G 2: 91,927,831 T195A probably damaging Het
Cldn10 T C 14: 118,855,012 I8T probably damaging Het
Col12a1 G A 9: 79,692,372 S833F probably benign Het
Cryba2 T A 1: 74,890,561 D139V possibly damaging Het
Emp1 T A 6: 135,377,212 M1K probably null Het
Exosc4 C A 15: 76,329,636 A220E probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fryl A G 5: 73,124,769 probably benign Het
Gm8298 T C 3: 59,877,042 L312P probably damaging Het
Grid2 C T 6: 64,063,935 T287I probably benign Het
Grifin C T 5: 140,564,739 A7T probably damaging Het
Gzmg T C 14: 56,157,341 K157E probably benign Het
Kcnq2 A T 2: 181,109,026 I340N probably damaging Het
Klrb1 T A 6: 128,710,637 H98L probably benign Het
Krtap5-2 C A 7: 142,175,731 G71C unknown Het
Krtap7-1 A T 16: 89,508,123 M47K probably benign Het
Lmntd1 T A 6: 145,427,276 probably null Het
Musk A G 4: 58,286,128 N6S possibly damaging Het
Olfr169 A G 16: 19,566,548 C112R probably damaging Het
Olfr33 A G 7: 102,713,601 F271L probably damaging Het
Olfr482 T G 7: 108,095,247 T108P probably benign Het
Olfr682-ps1 A T 7: 105,127,034 F89Y possibly damaging Het
Olfr893 T A 9: 38,209,578 I122N probably damaging Het
Pcdh19 A G X: 133,685,970 M432T probably benign Het
Prdm1 A G 10: 44,441,342 F495S probably damaging Het
Prkar2a T C 9: 108,733,204 Y211H possibly damaging Het
Ralgapa1 C A 12: 55,708,077 G1143V probably damaging Het
Rbbp7 A G X: 162,769,787 probably null Het
Scel C A 14: 103,533,326 H65Q probably damaging Het
Sec24d T C 3: 123,343,814 probably benign Het
Sfswap C A 5: 129,560,796 T839N probably benign Het
Slc15a1 T C 14: 121,462,499 I636V possibly damaging Het
Slc15a1 G T 14: 121,462,474 P644H probably benign Het
Sucla2 C T 14: 73,579,473 Q218* probably null Het
Tbc1d14 A T 5: 36,507,675 L237* probably null Het
Trpm7 C T 2: 126,797,943 E1578K probably damaging Het
Ttc17 G A 2: 94,330,667 T896I probably damaging Het
Virma A G 4: 11,513,163 D339G possibly damaging Het
Vmn2r54 T A 7: 12,615,606 Y683F probably benign Het
Xrra1 T A 7: 99,914,204 L466Q probably damaging Het
Other mutations in Slc6a21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Slc6a21 APN 7 45288244 missense probably benign 0.31
IGL01526:Slc6a21 APN 7 45287796 missense probably damaging 1.00
IGL01670:Slc6a21 APN 7 45288133 missense possibly damaging 0.91
IGL01975:Slc6a21 APN 7 45287851 missense probably benign 0.28
IGL02441:Slc6a21 APN 7 45288081 missense probably damaging 1.00
IGL02735:Slc6a21 APN 7 45286637 splice site probably benign
IGL03097:Slc6a21 UTSW 7 45288168 nonsense probably null
R0211:Slc6a21 UTSW 7 45288243 missense possibly damaging 0.90
R0211:Slc6a21 UTSW 7 45288243 missense possibly damaging 0.90
R0269:Slc6a21 UTSW 7 45286908 nonsense probably null
R0336:Slc6a21 UTSW 7 45286468 missense probably damaging 1.00
R1077:Slc6a21 UTSW 7 45288202 missense probably benign 0.42
R1476:Slc6a21 UTSW 7 45272628 missense probably benign 0.09
R1763:Slc6a21 UTSW 7 45287734 nonsense probably null
R1792:Slc6a21 UTSW 7 45280731 missense probably benign 0.04
R1796:Slc6a21 UTSW 7 45280755 missense probably damaging 1.00
R1812:Slc6a21 UTSW 7 45282947 missense probably damaging 1.00
R1868:Slc6a21 UTSW 7 45287828 missense probably benign 0.13
R2121:Slc6a21 UTSW 7 45288462 missense probably benign 0.04
R2129:Slc6a21 UTSW 7 45282773 splice site probably null
R2294:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R2295:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R2409:Slc6a21 UTSW 7 45280326 missense probably benign 0.15
R2858:Slc6a21 UTSW 7 45280528 missense possibly damaging 0.83
R3498:Slc6a21 UTSW 7 45280842 missense probably damaging 1.00
R3751:Slc6a21 UTSW 7 45280504 missense probably benign
R4297:Slc6a21 UTSW 7 45287762 missense possibly damaging 0.95
R4510:Slc6a21 UTSW 7 45287289 missense probably damaging 1.00
R4511:Slc6a21 UTSW 7 45287289 missense probably damaging 1.00
R4876:Slc6a21 UTSW 7 45280111 nonsense probably null
R4921:Slc6a21 UTSW 7 45288310 missense possibly damaging 0.53
R5485:Slc6a21 UTSW 7 45282542 critical splice donor site probably null
R5559:Slc6a21 UTSW 7 45288429 missense possibly damaging 0.61
R6305:Slc6a21 UTSW 7 45280604 missense possibly damaging 0.88
R6390:Slc6a21 UTSW 7 45287002 missense probably benign 0.02
R6571:Slc6a21 UTSW 7 45280879 missense probably damaging 0.99
R6792:Slc6a21 UTSW 7 45279885 start codon destroyed probably null 0.02
R7235:Slc6a21 UTSW 7 45280758 missense probably damaging 0.99
R7278:Slc6a21 UTSW 7 45282480 missense possibly damaging 0.84
R7808:Slc6a21 UTSW 7 45282936 missense
Posted On2014-05-07