Incidental Mutation 'R1573:Tgm6'
ID 170937
Institutional Source Beutler Lab
Gene Symbol Tgm6
Ensembl Gene ENSMUSG00000027403
Gene Name transglutaminase 6
Synonyms TGM3L
MMRRC Submission 039612-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1573 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129954336-129996152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129993660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 633 (S633L)
Ref Sequence ENSEMBL: ENSMUSP00000028888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028888]
AlphaFold Q8BM11
Predicted Effect probably benign
Transcript: ENSMUST00000028888
AA Change: S633L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028888
Gene: ENSMUSG00000027403
AA Change: S633L

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 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.1%
Validation Efficiency 98% (90/92)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 T C 11: 46,004,445 (GRCm39) probably benign Het
Add1 C G 5: 34,758,740 (GRCm39) A18G possibly damaging Het
Alk T C 17: 72,910,113 (GRCm39) K198E possibly damaging Het
Angptl1 T A 1: 156,684,740 (GRCm39) L303Q possibly damaging Het
Aox1 A T 1: 58,348,186 (GRCm39) I635L probably benign Het
Atp5mk T A 19: 47,074,634 (GRCm39) Q9L possibly damaging Het
Atp8a2 G T 14: 60,097,655 (GRCm39) T791K probably benign Het
Auts2 T C 5: 131,469,325 (GRCm39) K664R probably damaging Het
Birc6 T A 17: 74,967,685 (GRCm39) probably benign Het
Cacna1i C A 15: 80,277,869 (GRCm39) probably null Het
Cacna2d1 T C 5: 16,575,625 (GRCm39) F1077L probably damaging Het
Camkk1 C T 11: 72,918,307 (GRCm39) R52C probably damaging Het
Camkmt T A 17: 85,403,958 (GRCm39) V60E probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbr2 A T 11: 120,622,791 (GRCm39) L3Q possibly damaging Het
Ccar1 A T 10: 62,586,434 (GRCm39) D920E unknown Het
Cdc20b A G 13: 113,192,478 (GRCm39) N57S probably benign Het
Cep83 G A 10: 94,624,525 (GRCm39) E601K probably damaging Het
Cldn10 A T 14: 119,111,080 (GRCm39) I176L probably benign Het
Cpeb2 T C 5: 43,441,273 (GRCm39) probably benign Het
Crb1 A G 1: 139,265,344 (GRCm39) S25P probably damaging Het
Cyp3a59 A T 5: 146,039,684 (GRCm39) Y319F probably damaging Het
Dst C T 1: 34,240,312 (GRCm39) S1561F probably damaging Het
Dxo C T 17: 35,057,270 (GRCm39) R221C probably damaging Het
Dynlt4 A T 4: 116,985,191 (GRCm39) T5S probably benign Het
Epc2 A G 2: 49,439,984 (GRCm39) T801A possibly damaging Het
Fndc3a C A 14: 72,806,384 (GRCm39) C373F probably damaging Het
Frmpd1 T C 4: 45,283,932 (GRCm39) S918P probably benign Het
Fuca2 A G 10: 13,381,587 (GRCm39) T84A possibly damaging Het
Garin4 G A 1: 190,896,682 (GRCm39) probably benign Het
Gmeb1 A T 4: 131,979,051 (GRCm39) N21K probably benign Het
Htt T C 5: 35,021,718 (GRCm39) probably benign Het
Igsf1 T C X: 48,880,863 (GRCm39) R251G possibly damaging Het
Itih4 A T 14: 30,619,504 (GRCm39) H720L probably benign Het
Kank4 A T 4: 98,663,073 (GRCm39) L705* probably null Het
Krt34 A T 11: 99,931,854 (GRCm39) S122T probably benign Het
L1td1 A G 4: 98,625,517 (GRCm39) T571A probably benign Het
Lag3 T C 6: 124,886,210 (GRCm39) T248A possibly damaging Het
Lgi1 T A 19: 38,272,629 (GRCm39) H133Q probably benign Het
Map1a A T 2: 121,134,607 (GRCm39) T1808S probably benign Het
Mcm9 T C 10: 53,424,752 (GRCm39) T613A probably damaging Het
Meaf6 A G 4: 124,983,931 (GRCm39) I111V probably benign Het
Mki67 G A 7: 135,296,845 (GRCm39) P2730S possibly damaging Het
Mlc1 A C 15: 88,842,350 (GRCm39) C337G probably damaging Het
Mrc2 T A 11: 105,227,482 (GRCm39) Y572N probably damaging Het
Mterf3 T C 13: 67,070,967 (GRCm39) N172S possibly damaging Het
Or3a1c T A 11: 74,046,196 (GRCm39) M72K probably benign Het
Or4b1 A T 2: 89,979,068 (GRCm39) probably benign Het
Or4c115 T A 2: 88,928,064 (GRCm39) D69V probably damaging Het
Or5ak4 A T 2: 85,161,687 (GRCm39) L185H probably damaging Het
Or6c6c T C 10: 129,541,487 (GRCm39) S247P probably damaging Het
Padi4 T G 4: 140,484,881 (GRCm39) T327P possibly damaging Het
Pga5 T A 19: 10,651,201 (GRCm39) I151F probably benign Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Prokr2 T A 2: 132,215,684 (GRCm39) Q259L probably damaging Het
Ptbp2 C A 3: 119,546,754 (GRCm39) D43Y probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ralgps2 C T 1: 156,660,500 (GRCm39) R237Q possibly damaging Het
Rap1gds1 C A 3: 138,671,624 (GRCm39) probably null Het
Saa2 T A 7: 46,401,716 (GRCm39) M1K probably null Het
Samd9l T C 6: 3,375,426 (GRCm39) I612V probably damaging Het
Scn10a C T 9: 119,442,692 (GRCm39) V1518I probably benign Het
Serpina6 T C 12: 103,618,012 (GRCm39) D267G probably damaging Het
Sh2d4b A G 14: 40,564,329 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,718,034 (GRCm39) V505A probably benign Het
Smad2 A G 18: 76,395,657 (GRCm39) E32G possibly damaging Het
Smn1 T G 13: 100,263,118 (GRCm39) D32E probably damaging Het
Spata31d1c T C 13: 65,182,883 (GRCm39) S142P possibly damaging Het
Stk39 A T 2: 68,221,293 (GRCm39) I210N probably damaging Het
Tcte2 A G 17: 13,937,899 (GRCm39) probably benign Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Tenm2 A T 11: 35,937,896 (GRCm39) H1592Q probably damaging Het
Tescl A G 7: 24,032,668 (GRCm39) V219A probably damaging Het
Tmcc1 C T 6: 116,110,924 (GRCm39) S123N probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ulk2 G A 11: 61,670,581 (GRCm39) R992C probably damaging Het
Vwa5b1 G A 4: 138,332,184 (GRCm39) H278Y probably damaging Het
Wwp2 C T 8: 108,275,121 (GRCm39) R373W probably damaging Het
Zfp24 A T 18: 24,150,399 (GRCm39) D170E possibly damaging Het
Zfp808 T C 13: 62,319,311 (GRCm39) I180T possibly damaging Het
Zfp820 T A 17: 22,037,737 (GRCm39) Q530H probably benign Het
Zfp975 A T 7: 42,311,507 (GRCm39) Y369N probably benign 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
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'- ATGATTGTGGCAGTCTAACAGGGTG -3'
(R):5'- AGGCTGGAAACAGTAGTTGTACGC -3'

Sequencing Primer
(F):5'- CAGTCTAACAGGGTGTGTGG -3'
(R):5'- TTGTACGCATGAAGGACAGACC -3'
Posted On 2014-04-13