Incidental Mutation 'R0800:Tgm6'
ID 76219
Institutional Source Beutler Lab
Gene Symbol Tgm6
Ensembl Gene ENSMUSG00000027403
Gene Name transglutaminase 6
Synonyms TGM3L
MMRRC Submission 038980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0800 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129954336-129996152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129985342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 382 (V382M)
Ref Sequence ENSEMBL: ENSMUSP00000028888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028888]
AlphaFold Q8BM11
Predicted Effect possibly damaging
Transcript: ENSMUST00000028888
AA Change: V382M

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: V382M

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
Meta Mutation Damage Score 0.1461 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 93.7%
Validation Efficiency 98% (52/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B230217C12Rik T C 11: 97,732,086 (GRCm39) probably benign Het
Cacna1g T C 11: 94,317,265 (GRCm39) D1498G probably damaging Het
Ces3b T A 8: 105,811,901 (GRCm39) D103E possibly damaging Het
Chd5 A G 4: 152,440,614 (GRCm39) Y158C probably damaging Het
Cic A G 7: 24,984,662 (GRCm39) T1033A probably benign Het
Cst13 A T 2: 148,672,247 (GRCm39) I141F possibly damaging Het
Dnah7a A G 1: 53,604,855 (GRCm39) L1301P probably damaging Het
Dnah8 T A 17: 30,923,636 (GRCm39) F1201L probably benign Het
Dok7 T C 5: 35,232,633 (GRCm39) probably benign Het
Dzip3 A G 16: 48,774,171 (GRCm39) probably benign Het
Eml6 A G 11: 29,699,877 (GRCm39) V1753A probably benign Het
Fer1l4 A G 2: 155,887,583 (GRCm39) F538L possibly damaging Het
Fmo2 C T 1: 162,704,383 (GRCm39) D508N probably benign Het
Gabpb1 A T 2: 126,472,248 (GRCm39) Y351N probably damaging Het
Gnaq T A 19: 16,312,428 (GRCm39) V230E probably damaging Het
Gprc5c A C 11: 114,757,537 (GRCm39) K48Q probably damaging Het
Gzmd A G 14: 56,369,948 (GRCm39) L11P unknown Het
Hbq1b A C 11: 32,237,581 (GRCm39) H123P probably damaging Het
Hibadh T A 6: 52,533,490 (GRCm39) I209F probably damaging Het
Il17f G T 1: 20,848,177 (GRCm39) C100* probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Itga8 A T 2: 12,198,362 (GRCm39) V541E possibly damaging Het
Kifc5b T A 17: 27,142,158 (GRCm39) V212D probably benign Het
Klra2 A T 6: 131,207,137 (GRCm39) Y157* probably null Het
Kprp T C 3: 92,732,342 (GRCm39) Y236C unknown Het
Mmp12 A T 9: 7,357,827 (GRCm39) M414L possibly damaging Het
Myh6 A G 14: 55,190,735 (GRCm39) probably benign Het
Nlgn2 A G 11: 69,716,823 (GRCm39) F573L possibly damaging Het
Or10j7 C T 1: 173,011,627 (GRCm39) A125T probably damaging Het
Or4c124 A G 2: 89,156,008 (GRCm39) V172A probably benign Het
Pakap T A 4: 57,709,650 (GRCm39) D198E probably benign Het
Papss1 T A 3: 131,305,615 (GRCm39) probably benign Het
Parp4 A G 14: 56,827,408 (GRCm39) T181A probably benign Het
Piwil2 A T 14: 70,646,486 (GRCm39) probably benign Het
Pla2g12b A G 10: 59,239,642 (GRCm39) N17S probably benign Het
Polr3c C A 3: 96,626,627 (GRCm39) V266L probably damaging Het
Pou3f3 A G 1: 42,737,527 (GRCm39) T408A probably damaging Het
Pskh1 A G 8: 106,640,238 (GRCm39) Y306C probably damaging Het
Rom1 T A 19: 8,906,272 (GRCm39) D89V probably damaging Het
Sell T A 1: 163,893,770 (GRCm39) probably null Het
Sox6 A G 7: 115,178,249 (GRCm39) probably null Het
Speg T C 1: 75,400,133 (GRCm39) S2527P probably damaging Het
Stat3 A G 11: 100,784,981 (GRCm39) probably benign Het
Stra6l A G 4: 45,882,797 (GRCm39) T503A probably benign Het
Tapbp A G 17: 34,145,227 (GRCm39) T375A probably benign Het
Trappc9 A T 15: 72,824,981 (GRCm39) probably benign Het
Txlnb A G 10: 17,675,240 (GRCm39) N131S possibly damaging Het
Usp19 A G 9: 108,372,353 (GRCm39) E469G probably damaging Het
Vmn2r17 T A 5: 109,575,192 (GRCm39) probably benign Het
Zfp750 T C 11: 121,402,838 (GRCm39) T637A probably benign Het
Zhx2 A C 15: 57,686,124 (GRCm39) I498L probably damaging Het
Other mutations in Tgm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00567:Tgm6 APN 2 129,978,415 (GRCm39) missense probably benign 0.00
IGL01331:Tgm6 APN 2 129,985,538 (GRCm39) splice site probably null
IGL01348:Tgm6 APN 2 129,979,299 (GRCm39) missense probably damaging 1.00
IGL01787:Tgm6 APN 2 129,993,354 (GRCm39) splice site probably benign
IGL02208:Tgm6 APN 2 129,977,790 (GRCm39) missense probably benign 0.11
IGL02656:Tgm6 APN 2 129,987,023 (GRCm39) missense probably damaging 1.00
IGL03280:Tgm6 APN 2 129,980,851 (GRCm39) missense probably damaging 1.00
R0200:Tgm6 UTSW 2 129,994,865 (GRCm39) splice site probably null
R0507:Tgm6 UTSW 2 129,980,751 (GRCm39) missense possibly damaging 0.56
R0744:Tgm6 UTSW 2 129,993,681 (GRCm39) missense probably benign 0.00
R1530:Tgm6 UTSW 2 129,993,202 (GRCm39) missense possibly damaging 0.71
R1573:Tgm6 UTSW 2 129,993,660 (GRCm39) missense probably benign 0.00
R1706:Tgm6 UTSW 2 129,987,079 (GRCm39) missense possibly damaging 0.53
R2330:Tgm6 UTSW 2 129,985,162 (GRCm39) missense probably damaging 1.00
R2881:Tgm6 UTSW 2 129,979,359 (GRCm39) missense probably benign 0.04
R2882:Tgm6 UTSW 2 129,979,359 (GRCm39) missense probably benign 0.04
R3622:Tgm6 UTSW 2 129,993,681 (GRCm39) missense possibly damaging 0.86
R3624:Tgm6 UTSW 2 129,993,681 (GRCm39) missense possibly damaging 0.86
R4370:Tgm6 UTSW 2 129,985,525 (GRCm39) missense probably benign 0.12
R4664:Tgm6 UTSW 2 129,983,128 (GRCm39) missense probably benign 0.34
R4664:Tgm6 UTSW 2 129,979,314 (GRCm39) missense probably benign 0.05
R4983:Tgm6 UTSW 2 129,983,113 (GRCm39) missense probably damaging 0.99
R5182:Tgm6 UTSW 2 129,983,222 (GRCm39) missense probably damaging 0.98
R5397:Tgm6 UTSW 2 129,983,828 (GRCm39) missense possibly damaging 0.90
R5411:Tgm6 UTSW 2 129,987,116 (GRCm39) missense probably benign 0.01
R5683:Tgm6 UTSW 2 129,980,875 (GRCm39) missense probably damaging 1.00
R5933:Tgm6 UTSW 2 129,983,176 (GRCm39) missense probably damaging 1.00
R6016:Tgm6 UTSW 2 129,983,148 (GRCm39) missense probably damaging 0.99
R7252:Tgm6 UTSW 2 129,986,884 (GRCm39) missense probably damaging 1.00
R7290:Tgm6 UTSW 2 129,983,110 (GRCm39) missense probably damaging 1.00
R7581:Tgm6 UTSW 2 129,983,205 (GRCm39) missense probably damaging 1.00
R8143:Tgm6 UTSW 2 129,983,763 (GRCm39) missense probably damaging 0.98
R8153:Tgm6 UTSW 2 129,986,975 (GRCm39) missense probably benign 0.00
R8219:Tgm6 UTSW 2 129,993,200 (GRCm39) missense probably benign
R8297:Tgm6 UTSW 2 129,979,358 (GRCm39) missense probably benign
R8743:Tgm6 UTSW 2 129,985,418 (GRCm39) missense probably damaging 0.98
R9312:Tgm6 UTSW 2 129,977,701 (GRCm39) missense probably benign
R9346:Tgm6 UTSW 2 129,983,776 (GRCm39) nonsense probably null
R9631:Tgm6 UTSW 2 129,977,810 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TGTGACAGTGTCCATCAGACCAGG -3'
(R):5'- AATGTCCACACGAGAGTCACTGCC -3'

Sequencing Primer
(F):5'- ACTTCCACGTCTGGAATGAG -3'
(R):5'- GAGAGTCACTGCCCACTG -3'
Posted On 2013-10-16