Incidental Mutation 'IGL02656:Tgm6'
ID302343
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgm6
Ensembl Gene ENSMUSG00000027403
Gene Nametransglutaminase 6
SynonymsTGM3L
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02656
Quality Score
Status
Chromosome2
Chromosomal Location130112416-130154232 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 130145103 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 497 (G497D)
Ref Sequence ENSEMBL: ENSMUSP00000028888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028888]
Predicted Effect probably damaging
Transcript: ENSMUST00000028888
AA Change: G497D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: G497D

DomainStartEndE-ValueType
Pfam:Transglut_N 5 119 3e-31 PFAM
TGc 266 359 3.48e-40 SMART
low complexity region 466 483 N/A INTRINSIC
Pfam:Transglut_C 495 600 2.4e-23 PFAM
Pfam:Transglut_C 607 704 4.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147616
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Krt18 A G 15: 102,030,922 T277A probably benign Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Tgm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Tgm6 APN 2 130136495 missense probably benign 0.00
IGL01331:Tgm6 APN 2 130143618 splice site probably null
IGL01348:Tgm6 APN 2 130137379 missense probably damaging 1.00
IGL01787:Tgm6 APN 2 130151434 splice site probably benign
IGL02208:Tgm6 APN 2 130135870 missense probably benign 0.11
IGL03280:Tgm6 APN 2 130138931 missense probably damaging 1.00
R0200:Tgm6 UTSW 2 130152945 splice site probably null
R0507:Tgm6 UTSW 2 130138831 missense possibly damaging 0.56
R0744:Tgm6 UTSW 2 130151761 missense probably benign 0.00
R0800:Tgm6 UTSW 2 130143422 missense possibly damaging 0.94
R1530:Tgm6 UTSW 2 130151282 missense possibly damaging 0.71
R1573:Tgm6 UTSW 2 130151740 missense probably benign 0.00
R1706:Tgm6 UTSW 2 130145159 missense possibly damaging 0.53
R2330:Tgm6 UTSW 2 130143242 missense probably damaging 1.00
R2881:Tgm6 UTSW 2 130137439 missense probably benign 0.04
R2882:Tgm6 UTSW 2 130137439 missense probably benign 0.04
R3622:Tgm6 UTSW 2 130151761 missense possibly damaging 0.86
R3624:Tgm6 UTSW 2 130151761 missense possibly damaging 0.86
R4370:Tgm6 UTSW 2 130143605 missense probably benign 0.12
R4664:Tgm6 UTSW 2 130137394 missense probably benign 0.05
R4664:Tgm6 UTSW 2 130141208 missense probably benign 0.34
R4983:Tgm6 UTSW 2 130141193 missense probably damaging 0.99
R5182:Tgm6 UTSW 2 130141302 missense probably damaging 0.98
R5397:Tgm6 UTSW 2 130141908 missense possibly damaging 0.90
R5411:Tgm6 UTSW 2 130145196 missense probably benign 0.01
R5683:Tgm6 UTSW 2 130138955 missense probably damaging 1.00
R5933:Tgm6 UTSW 2 130141256 missense probably damaging 1.00
R6016:Tgm6 UTSW 2 130141228 missense probably damaging 0.99
R7252:Tgm6 UTSW 2 130144964 missense probably damaging 1.00
R7290:Tgm6 UTSW 2 130141190 missense probably damaging 1.00
R7581:Tgm6 UTSW 2 130141285 missense probably damaging 1.00
R8143:Tgm6 UTSW 2 130141843 missense probably damaging 0.98
R8153:Tgm6 UTSW 2 130145055 missense probably benign 0.00
R8219:Tgm6 UTSW 2 130151280 missense probably benign
R8297:Tgm6 UTSW 2 130137438 missense probably benign
Posted On2015-04-16