Incidental Mutation 'R0356:Tgm5'
ID 29813
Institutional Source Beutler Lab
Gene Symbol Tgm5
Ensembl Gene ENSMUSG00000053675
Gene Name transglutaminase 5
Synonyms TGx, 2310007C07Rik
MMRRC Submission 038562-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R0356 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 120876592-120916322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120884055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 313 (T313S)
Ref Sequence ENSEMBL: ENSMUSP00000028721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028721]
AlphaFold Q9D7I9
Predicted Effect probably damaging
Transcript: ENSMUST00000028721
AA Change: T313S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: T313S

DomainStartEndE-ValueType
Pfam:Transglut_N 11 127 1.4e-31 PFAM
TGc 275 368 1.86e-49 SMART
Pfam:Transglut_C 511 610 2.5e-23 PFAM
Pfam:Transglut_C 624 722 1.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119778
Meta Mutation Damage Score 0.3203 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.6%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null allele display normal skin barrier function and no signs of skin peeling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,464,418 (GRCm39) probably benign Het
Adgrg6 C T 10: 14,302,642 (GRCm39) V924M possibly damaging Het
Anxa9 A G 3: 95,215,387 (GRCm39) probably benign Het
Ap3d1 G T 10: 80,563,812 (GRCm39) S122R probably damaging Het
Arhgap5 T C 12: 52,563,091 (GRCm39) S21P probably damaging Het
Atp13a5 A G 16: 29,167,573 (GRCm39) probably benign Het
AU040320 A T 4: 126,731,155 (GRCm39) D618V probably damaging Het
Cbfa2t2 T A 2: 154,373,269 (GRCm39) D475E probably benign Het
Ccdc202 T A 14: 96,119,801 (GRCm39) V186E possibly damaging Het
Ccdc62 G A 5: 124,092,811 (GRCm39) V599I probably benign Het
Cenpj T C 14: 56,786,953 (GRCm39) E917G probably damaging Het
Cog5 T C 12: 31,887,180 (GRCm39) probably benign Het
Col9a1 T A 1: 24,224,328 (GRCm39) L170* probably null Het
Daxx T A 17: 34,132,867 (GRCm39) V627D probably benign Het
Dnah9 A G 11: 66,021,388 (GRCm39) probably null Het
Drg2 T A 11: 60,352,407 (GRCm39) V203E probably damaging Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fer1l4 T C 2: 155,865,930 (GRCm39) Y1586C probably damaging Het
Gp6 A T 7: 4,373,141 (GRCm39) probably benign Het
Hhip T C 8: 80,724,121 (GRCm39) I374V probably benign Het
Hspa12b G T 2: 130,986,719 (GRCm39) V547L possibly damaging Het
Iars1 G A 13: 49,856,709 (GRCm39) V321I probably benign Het
Itga8 T C 2: 12,187,532 (GRCm39) M716V possibly damaging Het
Lcn5 T C 2: 25,550,705 (GRCm39) I131T probably damaging Het
Mki67 G A 7: 135,306,135 (GRCm39) T614M probably benign Het
Mmp3 G A 9: 7,451,768 (GRCm39) E369K probably benign Het
Myt1l A G 12: 29,861,500 (GRCm39) D94G unknown Het
Neil1 T C 9: 57,054,180 (GRCm39) I47V possibly damaging Het
Nr5a2 T C 1: 136,773,430 (GRCm39) N424S possibly damaging Het
Or1e21 A T 11: 73,344,906 (GRCm39) I44N possibly damaging Het
Or51f5 A T 7: 102,424,286 (GRCm39) D185V probably damaging Het
Or5b120 A G 19: 13,480,441 (GRCm39) T245A possibly damaging Het
Or7e166 G T 9: 19,624,743 (GRCm39) G207C probably damaging Het
Pakap C A 4: 57,855,628 (GRCm39) T360K possibly damaging Het
Pde8b G T 13: 95,182,962 (GRCm39) N265K probably damaging Het
Prpf40b T C 15: 99,203,080 (GRCm39) probably null Het
Samd9l T C 6: 3,375,107 (GRCm39) D718G possibly damaging Het
Sirpb1c T C 3: 15,887,309 (GRCm39) N175D possibly damaging Het
Srgap1 A T 10: 121,691,441 (GRCm39) probably null Het
Tigar A G 6: 127,068,145 (GRCm39) probably null Het
Tmprss11b A G 5: 86,808,326 (GRCm39) *417Q probably null Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Ttll11 T C 2: 35,792,688 (GRCm39) D385G possibly damaging Het
Zfp426 T C 9: 20,382,541 (GRCm39) T135A probably benign Het
Other mutations in Tgm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Tgm5 APN 2 120,901,977 (GRCm39) missense probably benign 0.01
IGL01148:Tgm5 APN 2 120,877,156 (GRCm39) splice site probably null
IGL01284:Tgm5 APN 2 120,883,028 (GRCm39) missense possibly damaging 0.94
IGL01370:Tgm5 APN 2 120,884,018 (GRCm39) missense probably benign 0.03
IGL01545:Tgm5 APN 2 120,883,289 (GRCm39) missense probably damaging 1.00
IGL01547:Tgm5 APN 2 120,879,683 (GRCm39) splice site probably benign
IGL01998:Tgm5 APN 2 120,882,920 (GRCm39) missense probably damaging 1.00
IGL02577:Tgm5 APN 2 120,908,084 (GRCm39) missense probably benign 0.01
IGL02636:Tgm5 APN 2 120,907,277 (GRCm39) missense probably damaging 0.99
PIT4283001:Tgm5 UTSW 2 120,902,066 (GRCm39) missense possibly damaging 0.48
R0001:Tgm5 UTSW 2 120,908,127 (GRCm39) missense probably damaging 1.00
R0013:Tgm5 UTSW 2 120,907,363 (GRCm39) missense probably damaging 1.00
R0105:Tgm5 UTSW 2 120,907,493 (GRCm39) missense probably damaging 1.00
R0105:Tgm5 UTSW 2 120,907,493 (GRCm39) missense probably damaging 1.00
R0117:Tgm5 UTSW 2 120,905,583 (GRCm39) critical splice donor site probably null
R0145:Tgm5 UTSW 2 120,908,062 (GRCm39) missense possibly damaging 0.93
R0410:Tgm5 UTSW 2 120,908,039 (GRCm39) missense possibly damaging 0.46
R0519:Tgm5 UTSW 2 120,879,376 (GRCm39) missense probably damaging 1.00
R1674:Tgm5 UTSW 2 120,902,025 (GRCm39) missense possibly damaging 0.60
R1773:Tgm5 UTSW 2 120,908,131 (GRCm39) missense possibly damaging 0.67
R1864:Tgm5 UTSW 2 120,905,699 (GRCm39) missense probably damaging 1.00
R2276:Tgm5 UTSW 2 120,879,304 (GRCm39) splice site probably benign
R2511:Tgm5 UTSW 2 120,907,429 (GRCm39) missense possibly damaging 0.62
R4180:Tgm5 UTSW 2 120,907,442 (GRCm39) missense probably benign 0.13
R4230:Tgm5 UTSW 2 120,901,216 (GRCm39) missense probably damaging 1.00
R4801:Tgm5 UTSW 2 120,882,953 (GRCm39) missense probably damaging 1.00
R4802:Tgm5 UTSW 2 120,882,953 (GRCm39) missense probably damaging 1.00
R5840:Tgm5 UTSW 2 120,916,141 (GRCm39) critical splice donor site probably null
R6033:Tgm5 UTSW 2 120,901,210 (GRCm39) splice site probably null
R6033:Tgm5 UTSW 2 120,901,210 (GRCm39) splice site probably null
R7064:Tgm5 UTSW 2 120,883,995 (GRCm39) missense probably benign 0.04
R7102:Tgm5 UTSW 2 120,876,979 (GRCm39) missense possibly damaging 0.89
R7114:Tgm5 UTSW 2 120,878,977 (GRCm39) nonsense probably null
R7178:Tgm5 UTSW 2 120,916,249 (GRCm39) start gained probably benign
R7748:Tgm5 UTSW 2 120,883,289 (GRCm39) missense probably damaging 1.00
R7969:Tgm5 UTSW 2 120,905,650 (GRCm39) missense probably damaging 1.00
R8428:Tgm5 UTSW 2 120,879,356 (GRCm39) missense probably benign
R9010:Tgm5 UTSW 2 120,879,371 (GRCm39) missense possibly damaging 0.94
R9129:Tgm5 UTSW 2 120,877,270 (GRCm39) missense probably damaging 0.99
R9465:Tgm5 UTSW 2 120,905,633 (GRCm39) missense probably damaging 1.00
RF022:Tgm5 UTSW 2 120,902,092 (GRCm39) missense probably damaging 1.00
V3553:Tgm5 UTSW 2 120,901,983 (GRCm39) missense probably damaging 1.00
X0065:Tgm5 UTSW 2 120,901,320 (GRCm39) missense probably damaging 1.00
Z1177:Tgm5 UTSW 2 120,882,932 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGCTATGAGCACAGTCCTGTCC -3'
(R):5'- CTTTCACTAGATGCAGGAAGCCCAC -3'

Sequencing Primer
(F):5'- GAGCACAGTCCTGTCCTACTTC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-04-24