Incidental Mutation 'R4370:Tgm6'
ID 325945
Institutional Source Beutler Lab
Gene Symbol Tgm6
Ensembl Gene ENSMUSG00000027403
Gene Name transglutaminase 6
Synonyms TGM3L
MMRRC Submission 041674-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4370 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 129954336-129996152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129985525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 443 (Y443H)
Ref Sequence ENSEMBL: ENSMUSP00000028888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028888]
AlphaFold Q8BM11
Predicted Effect probably benign
Transcript: ENSMUST00000028888
AA Change: Y443H

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: Y443H

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: 97.1%
  • 20x: 94.9%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,708 (GRCm39) D190E possibly damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Armc2 A T 10: 41,793,196 (GRCm39) N809K probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bmal2 A T 6: 146,711,149 (GRCm39) E51V probably damaging Het
Cage1 G A 13: 38,209,626 (GRCm39) S11F probably damaging Het
Car15 T C 16: 17,653,299 (GRCm39) I289M probably damaging Het
Cdhr18 C T 14: 13,862,375 (GRCm38) S393N probably benign Het
Cfap100 A T 6: 90,390,376 (GRCm39) I242N probably damaging Het
Dst GAA GA 1: 34,290,809 (GRCm39) probably null Het
Epdr1 C A 13: 19,803,576 (GRCm39) V53F probably benign Het
Igfn1 A G 1: 135,895,844 (GRCm39) M1574T probably benign Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krtap4-7 G A 11: 99,534,543 (GRCm39) P107S unknown Het
Lrp6 A C 6: 134,483,321 (GRCm39) Y461* probably null Het
Mecom T A 3: 30,011,504 (GRCm39) E723V probably damaging Het
Nsd3 T A 8: 26,138,524 (GRCm39) I258N probably benign Het
Or10q12 T C 19: 13,746,315 (GRCm39) V203A probably benign Het
Or5k8 T A 16: 58,644,956 (GRCm39) M39L probably benign Het
Or8k32 A T 2: 86,368,764 (GRCm39) I165N possibly damaging Het
Rb1cc1 A G 1: 6,318,771 (GRCm39) D730G probably damaging Het
Sacs A G 14: 61,449,758 (GRCm39) R3935G probably damaging Het
Setd5 A G 6: 113,098,766 (GRCm39) K800E probably damaging Het
Slc26a4 G T 12: 31,579,475 (GRCm39) Q596K probably benign Het
Slc38a4 T A 15: 96,906,965 (GRCm39) N258Y possibly damaging Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Sspo A G 6: 48,443,282 (GRCm39) S2051G probably null Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tgm2 G A 2: 157,966,221 (GRCm39) R478* probably null Het
Tor2a T A 2: 32,648,870 (GRCm39) D113E probably benign Het
Trio C A 15: 27,748,423 (GRCm39) E1266* probably null Het
Usp40 T C 1: 87,925,597 (GRCm39) I211V probably benign Het
Zfp791 C T 8: 85,840,235 (GRCm39) V11M 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
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
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'- GTGAAGGTGACGTGCATCTAGC -3'
(R):5'- TACCTTGAGGAAACACCACTCG -3'

Sequencing Primer
(F):5'- TGACGTGCATCTAGCCCATGATG -3'
(R):5'- CACCACTCGCACATGGG -3'
Posted On 2015-07-06