Incidental Mutation 'R5411:Tgm6'
ID 427449
Institutional Source Beutler Lab
Gene Symbol Tgm6
Ensembl Gene ENSMUSG00000027403
Gene Name transglutaminase 6
Synonyms TGM3L
MMRRC Submission 042980-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5411 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 129954336-129996152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129987116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 528 (R528Q)
Ref Sequence ENSEMBL: ENSMUSP00000028888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028888]
AlphaFold Q8BM11
Predicted Effect probably benign
Transcript: ENSMUST00000028888
AA Change: R528Q

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: R528Q

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 C A 9: 53,493,946 (GRCm39) V392F probably damaging Het
Ache C T 5: 137,288,326 (GRCm39) P11S possibly damaging Het
Ache T A 5: 137,288,692 (GRCm39) probably null Het
Acoxl A T 2: 127,696,821 (GRCm39) H23L probably benign Het
Adamtsl1 G A 4: 86,306,650 (GRCm39) probably null Het
Adar T A 3: 89,646,519 (GRCm39) F45I probably benign Het
Adgrf4 A C 17: 42,978,104 (GRCm39) L413R probably damaging Het
Atp6v1g3 A T 1: 138,215,627 (GRCm39) I96F probably benign Het
Brsk2 T C 7: 141,554,594 (GRCm39) M653T probably benign Het
Cacna1s G T 1: 136,033,549 (GRCm39) V1275L probably benign Het
Ces3b T C 8: 105,815,264 (GRCm39) V5A possibly damaging Het
Chpt1 A T 10: 88,312,969 (GRCm39) I281N probably damaging Het
Col10a1 A G 10: 34,270,553 (GRCm39) E175G probably damaging Het
Col27a1 T C 4: 63,142,902 (GRCm39) S197P probably damaging Het
Csmd1 T A 8: 15,960,471 (GRCm39) R3315W probably damaging Het
Ctnna2 T C 6: 77,091,914 (GRCm39) E443G probably damaging Het
Dhx9 G T 1: 153,356,969 (GRCm39) S93R probably benign Het
Efcab8 A G 2: 153,625,676 (GRCm39) H112R probably damaging Het
Eif3d A T 15: 77,843,887 (GRCm39) N486K probably damaging Het
Esp8 C T 17: 40,840,909 (GRCm39) R57* probably null Het
Eya3 A T 4: 132,417,090 (GRCm39) I130F probably damaging Het
Fat2 G T 11: 55,143,052 (GRCm39) L4266I probably benign Het
Fras1 T A 5: 96,793,019 (GRCm39) D983E probably benign Het
Gcc2 T C 10: 58,106,791 (GRCm39) S640P probably damaging Het
Gys2 C T 6: 142,394,147 (GRCm39) G464R probably damaging Het
Heatr5a G A 12: 51,935,026 (GRCm39) T1659I probably damaging Het
Il17ra A G 6: 120,458,403 (GRCm39) D518G probably damaging Het
Kcnk13 A G 12: 100,027,510 (GRCm39) Y195C probably damaging Het
Kmt2a T A 9: 44,759,782 (GRCm39) H722L probably damaging Het
Luzp1 C A 4: 136,270,653 (GRCm39) Q959K possibly damaging Het
Mep1b T A 18: 21,219,306 (GRCm39) H153Q probably damaging Het
Mfsd13b A T 7: 120,599,346 (GRCm39) I381F probably benign Het
Mvk A G 5: 114,597,034 (GRCm39) T334A probably benign Het
Naa30 T C 14: 49,425,008 (GRCm39) V320A probably damaging Het
Naip5 C T 13: 100,382,254 (GRCm39) G152S possibly damaging Het
Neb A C 2: 52,185,384 (GRCm39) S949R probably damaging Het
Nfya A T 17: 48,699,046 (GRCm39) I214N possibly damaging Het
Nsf G T 11: 103,773,637 (GRCm39) N292K probably damaging Het
Nup133 T C 8: 124,653,945 (GRCm39) T505A probably benign Het
Or4c1 A C 2: 89,133,920 (GRCm39) S5R probably benign Het
Or4p7 A G 2: 88,221,605 (GRCm39) T5A probably benign Het
Or5h24 T A 16: 58,919,067 (GRCm39) H96L unknown Het
Or9s23 A T 1: 92,501,546 (GRCm39) T218S probably benign Het
P4ha3 A T 7: 99,943,022 (GRCm39) R136W probably damaging Het
Parp12 A G 6: 39,067,142 (GRCm39) V550A probably damaging Het
Phf11a T C 14: 59,532,387 (GRCm39) D16G probably benign Het
Pramel31 T A 4: 144,088,207 (GRCm39) M1K probably null Het
Rab3gap2 A G 1: 185,009,342 (GRCm39) probably null Het
Sco1 A G 11: 66,954,784 (GRCm39) D263G probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Homo
Sfpq T A 4: 126,915,516 (GRCm39) S103T unknown Het
Shisa7 G A 7: 4,832,975 (GRCm39) R263C probably damaging Het
Ssc4d T A 5: 135,992,254 (GRCm39) D144V probably benign Het
Stxbp5l G A 16: 36,950,213 (GRCm39) P1044L probably damaging Het
Tlr3 A T 8: 45,849,992 (GRCm39) H892Q probably benign Het
Tmc2 A G 2: 130,082,035 (GRCm39) H406R probably damaging Het
Tmtc1 A T 6: 148,345,397 (GRCm39) probably null Het
Ttc19 A G 11: 62,174,977 (GRCm39) I139M probably benign Het
Utrn G A 10: 12,524,929 (GRCm39) R2185C probably benign Het
Wdfy4 T C 14: 32,681,959 (GRCm39) N3004S probably damaging Het
Wdr3 C A 3: 100,050,300 (GRCm39) G746W probably damaging Het
Zfp335 T A 2: 164,744,165 (GRCm39) Q500L probably damaging Het
Zfp804b A T 5: 6,820,071 (GRCm39) D961E probably benign Het
Zkscan16 CTTCAGCTTTCA CTTCA 4: 58,956,745 (GRCm39) probably null 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
R0800:Tgm6 UTSW 2 129,985,342 (GRCm39) missense possibly damaging 0.94
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
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'- AACTGCTAAGTGTGGAAGCC -3'
(R):5'- GGATGAATGTAAATCTGGGACTCC -3'

Sequencing Primer
(F):5'- CTAAGTGTGGAAGCCTGGGG -3'
(R):5'- GGACTCCCCCTCACTGCTG -3'
Posted On 2016-09-01