Incidental Mutation 'V3553:Tgm5'
ID 44051
Institutional Source Beutler Lab
Gene Symbol Tgm5
Ensembl Gene ENSMUSG00000053675
Gene Name transglutaminase 5
Synonyms TGx, 2310007C07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # V3553 () of strain feckless
Quality Score 206
Status Not validated
Chromosome 2
Chromosomal Location 120876592-120916322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 120901983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 229 (V229I)
Ref Sequence ENSEMBL: ENSMUSP00000028721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028721]
AlphaFold Q9D7I9
Predicted Effect probably damaging
Transcript: ENSMUST00000028721
AA Change: V229I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675
AA Change: V229I

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: ENSMUST00000142674
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcas3 G A 11: 85,712,926 (GRCm39) probably benign Het
Bicral G T 17: 47,141,021 (GRCm39) N20K probably damaging Het
Dnah9 C A 11: 65,860,902 (GRCm39) G2823C probably damaging Het
Hcfc2 T C 10: 82,547,895 (GRCm39) W296R probably damaging Het
Lrp1 C T 10: 127,407,311 (GRCm39) G1877S probably damaging Het
Rhbdf1 G A 11: 32,161,583 (GRCm39) P575L probably damaging Het
Sh3pxd2a G A 19: 47,255,658 (GRCm39) P1048L probably benign Het
Tmem167 A C 13: 90,246,585 (GRCm39) K36N probably damaging Het
Tnfrsf21 G A 17: 43,348,822 (GRCm39) A145T probably benign Het
Zfp84 G T 7: 29,476,672 (GRCm39) A455S 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
R0356:Tgm5 UTSW 2 120,884,055 (GRCm39) missense probably damaging 1.00
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
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'- ACTCAGTGACACTCAGCTTCTGTCC -3'
(R):5'- GCTTTGAAACCATGCACCTTCCTG -3'

Sequencing Primer
(F):5'- AACAGCTATCCCAGGGTTTAG -3'
(R):5'- GACAACTACCTTGCAATTGGG -3'
Posted On 2013-05-31