Incidental Mutation 'IGL01547:Tgm5'
ID 90375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgm5
Ensembl Gene ENSMUSG00000053675
Gene Name transglutaminase 5
Synonyms 2310007C07Rik, TGx
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock # IGL01547
Quality Score
Status
Chromosome 2
Chromosomal Location 121046111-121085841 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 121049202 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028721]
AlphaFold Q9D7I9
Predicted Effect probably benign
Transcript: ENSMUST00000028721
SMART Domains Protein: ENSMUSP00000028721
Gene: ENSMUSG00000053675

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
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,455,262 G243R possibly damaging Het
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bag1 A G 4: 40,936,661 C332R probably damaging Het
Bcas2 T C 3: 103,171,999 Y49H probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Mtfr2 C T 10: 20,357,599 P305S probably damaging Het
Olfr301 A G 7: 86,412,871 N170D possibly damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in Tgm5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Tgm5 APN 2 121071496 missense probably benign 0.01
IGL01148:Tgm5 APN 2 121046675 splice site probably null
IGL01284:Tgm5 APN 2 121052547 missense possibly damaging 0.94
IGL01370:Tgm5 APN 2 121053537 missense probably benign 0.03
IGL01545:Tgm5 APN 2 121052808 missense probably damaging 1.00
IGL01998:Tgm5 APN 2 121052439 missense probably damaging 1.00
IGL02577:Tgm5 APN 2 121077603 missense probably benign 0.01
IGL02636:Tgm5 APN 2 121076796 missense probably damaging 0.99
PIT4283001:Tgm5 UTSW 2 121071585 missense possibly damaging 0.48
R0001:Tgm5 UTSW 2 121077646 missense probably damaging 1.00
R0013:Tgm5 UTSW 2 121076882 missense probably damaging 1.00
R0105:Tgm5 UTSW 2 121077012 missense probably damaging 1.00
R0105:Tgm5 UTSW 2 121077012 missense probably damaging 1.00
R0117:Tgm5 UTSW 2 121075102 critical splice donor site probably null
R0145:Tgm5 UTSW 2 121077581 missense possibly damaging 0.93
R0356:Tgm5 UTSW 2 121053574 missense probably damaging 1.00
R0410:Tgm5 UTSW 2 121077558 missense possibly damaging 0.46
R0519:Tgm5 UTSW 2 121048895 missense probably damaging 1.00
R1674:Tgm5 UTSW 2 121071544 missense possibly damaging 0.60
R1773:Tgm5 UTSW 2 121077650 missense possibly damaging 0.67
R1864:Tgm5 UTSW 2 121075218 missense probably damaging 1.00
R2276:Tgm5 UTSW 2 121048823 splice site probably benign
R2511:Tgm5 UTSW 2 121076948 missense possibly damaging 0.62
R4180:Tgm5 UTSW 2 121076961 missense probably benign 0.13
R4230:Tgm5 UTSW 2 121070735 missense probably damaging 1.00
R4801:Tgm5 UTSW 2 121052472 missense probably damaging 1.00
R4802:Tgm5 UTSW 2 121052472 missense probably damaging 1.00
R5840:Tgm5 UTSW 2 121085660 critical splice donor site probably null
R6033:Tgm5 UTSW 2 121070729 splice site probably null
R6033:Tgm5 UTSW 2 121070729 splice site probably null
R7064:Tgm5 UTSW 2 121053514 missense probably benign 0.04
R7102:Tgm5 UTSW 2 121046498 missense possibly damaging 0.89
R7114:Tgm5 UTSW 2 121048496 nonsense probably null
R7178:Tgm5 UTSW 2 121085768 start gained probably benign
R7748:Tgm5 UTSW 2 121052808 missense probably damaging 1.00
R7969:Tgm5 UTSW 2 121075169 missense probably damaging 1.00
R8428:Tgm5 UTSW 2 121048875 missense probably benign
R9010:Tgm5 UTSW 2 121048890 missense possibly damaging 0.94
R9129:Tgm5 UTSW 2 121046789 missense probably damaging 0.99
R9465:Tgm5 UTSW 2 121075152 missense probably damaging 1.00
RF022:Tgm5 UTSW 2 121071611 missense probably damaging 1.00
V3553:Tgm5 UTSW 2 121071502 missense probably damaging 1.00
X0065:Tgm5 UTSW 2 121070839 missense probably damaging 1.00
Z1177:Tgm5 UTSW 2 121052451 missense probably damaging 1.00
Posted On 2013-12-03