Incidental Mutation 'IGL02449:Tgm3'
ID294106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tgm3
Ensembl Gene ENSMUSG00000027401
Gene Nametransglutaminase 3, E polypeptide
SynonymsTG E
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02449
Quality Score
Status
Chromosome2
Chromosomal Location130012349-130050399 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 130038609 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110299]
Predicted Effect probably null
Transcript: ENSMUST00000110299
SMART Domains Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401

DomainStartEndE-ValueType
Pfam:Transglut_N 5 118 8.3e-33 PFAM
TGc 265 357 6.4e-39 SMART
Pfam:Transglut_C 483 588 3.9e-26 PFAM
Pfam:Transglut_C 595 693 4.9e-24 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU or null mutation exhibit rough-looking, curly hair. Null mutants display delayed skin barrier formation, loss of vibrissae, and brittle hairs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,401,749 probably null Het
Akap6 A G 12: 53,140,188 T1462A probably damaging Het
Arl6ip6 T C 2: 53,192,526 probably benign Het
Ascc3 A T 10: 50,700,599 Q883H probably benign Het
Atp11a T A 8: 12,757,358 probably null Het
Cds1 G A 5: 101,815,928 G371D probably damaging Het
Col12a1 A G 9: 79,641,469 L2198P probably damaging Het
Cyp2d22 C T 15: 82,373,241 G241D probably benign Het
Dapk1 T C 13: 60,719,770 probably benign Het
Dera T A 6: 137,780,817 probably null Het
Efcab6 A G 15: 84,010,033 V186A probably benign Het
Gm9637 T A 14: 19,402,436 noncoding transcript Het
Gpr180 T C 14: 118,160,120 L342P probably damaging Het
Heg1 T C 16: 33,738,725 probably null Het
Kcnab2 C A 4: 152,411,984 probably null Het
Lax1 A G 1: 133,680,136 V289A probably damaging Het
Ly6k T G 15: 74,797,085 D115A probably benign Het
Mcc A C 18: 44,459,958 I670S probably benign Het
Mpdz C A 4: 81,329,422 probably null Het
Mrgprb8 T A 7: 48,388,683 L34* probably null Het
Mtor T A 4: 148,533,921 H1730Q possibly damaging Het
Muc4 C T 16: 32,756,129 probably benign Het
Myh8 T C 11: 67,294,614 probably null Het
Naip5 A T 13: 100,222,175 V851E probably benign Het
Neb T C 2: 52,201,906 I1277V probably benign Het
Nlrp9a T C 7: 26,564,971 M683T probably benign Het
Npr2 A G 4: 43,646,641 Y663C probably damaging Het
Padi3 C T 4: 140,789,712 probably null Het
Pclo A G 5: 14,515,343 D41G probably damaging Het
Pds5a A T 5: 65,619,010 N80K probably damaging Het
Plec C T 15: 76,186,763 D812N possibly damaging Het
Psg20 A T 7: 18,684,408 probably benign Het
Ptch2 C A 4: 117,108,183 L322I possibly damaging Het
Ptprv T C 1: 135,111,336 noncoding transcript Het
Scn2b A G 9: 45,125,514 K107E probably damaging Het
Slc24a4 A C 12: 102,227,082 I226L probably benign Het
Spink4 A G 4: 40,929,190 M72V probably benign Het
Supt16 A T 14: 52,173,806 M676K possibly damaging Het
Svep1 A C 4: 58,070,296 C2497G possibly damaging Het
Tenm2 T A 11: 36,023,622 T2362S probably damaging Het
Trpa1 T A 1: 14,898,157 T462S probably damaging Het
Ucp2 G A 7: 100,498,810 V237M probably damaging Het
Vmn2r53 C A 7: 12,582,361 L510F probably damaging Het
Zan G A 5: 137,389,327 T4874M unknown Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp974 T A 7: 27,911,727 Y191F probably benign Het
Other mutations in Tgm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Tgm3 APN 2 130038413 missense probably damaging 1.00
IGL00924:Tgm3 APN 2 130038374 missense probably damaging 1.00
IGL01469:Tgm3 APN 2 130024494 missense probably damaging 1.00
IGL01722:Tgm3 APN 2 130044568 missense probably damaging 0.99
IGL01787:Tgm3 APN 2 130047740 missense possibly damaging 0.85
IGL02269:Tgm3 APN 2 130024518 missense probably benign 0.02
IGL02437:Tgm3 APN 2 130030041 splice site probably null
IGL02992:Tgm3 APN 2 130041979 missense probably damaging 1.00
tortellini UTSW 2 130024585 critical splice donor site probably benign
ANU74:Tgm3 UTSW 2 130048390 missense probably damaging 1.00
R0523:Tgm3 UTSW 2 130044662 critical splice donor site probably null
R0833:Tgm3 UTSW 2 130026682 splice site probably benign
R0834:Tgm3 UTSW 2 130026757 missense probably benign 0.00
R0836:Tgm3 UTSW 2 130026682 splice site probably benign
R0940:Tgm3 UTSW 2 130012406 missense probably benign 0.00
R1354:Tgm3 UTSW 2 130041898 missense probably benign
R1642:Tgm3 UTSW 2 130047782 missense probably damaging 1.00
R1670:Tgm3 UTSW 2 130041768 nonsense probably null
R1715:Tgm3 UTSW 2 130026814 critical splice donor site probably null
R1944:Tgm3 UTSW 2 130029969 missense probably damaging 0.99
R2104:Tgm3 UTSW 2 130037483 missense probably benign 0.39
R3416:Tgm3 UTSW 2 130047772 missense possibly damaging 0.84
R3417:Tgm3 UTSW 2 130047772 missense possibly damaging 0.84
R4231:Tgm3 UTSW 2 130044589 nonsense probably null
R4296:Tgm3 UTSW 2 130038413 missense possibly damaging 0.77
R4794:Tgm3 UTSW 2 130041955 missense probably benign 0.00
R4948:Tgm3 UTSW 2 130048320 missense probably benign 0.00
R5034:Tgm3 UTSW 2 130037484 missense possibly damaging 0.95
R5144:Tgm3 UTSW 2 130048282 missense possibly damaging 0.95
R5786:Tgm3 UTSW 2 130026784 nonsense probably null
R6030:Tgm3 UTSW 2 130042000 missense probably damaging 1.00
R6030:Tgm3 UTSW 2 130042000 missense probably damaging 1.00
R6182:Tgm3 UTSW 2 130025301 nonsense probably null
R6219:Tgm3 UTSW 2 130038610 critical splice donor site probably null
R6901:Tgm3 UTSW 2 130041970 missense possibly damaging 0.95
R6969:Tgm3 UTSW 2 130042029 missense probably benign 0.06
R6980:Tgm3 UTSW 2 130026777 missense probably benign 0.17
R7282:Tgm3 UTSW 2 130024561 missense probably benign 0.00
R7317:Tgm3 UTSW 2 130048291 missense probably benign 0.09
R7513:Tgm3 UTSW 2 130024404 missense probably benign 0.00
R7517:Tgm3 UTSW 2 130041764 missense probably benign 0.01
X0065:Tgm3 UTSW 2 130024510 missense probably benign 0.05
Posted On2015-04-16