Incidental Mutation 'IGL02269:Tgm3'
ID287054
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 #IGL02269
Quality Score
Status
Chromosome2
Chromosomal Location130012349-130050399 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 130024518 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 119 (S119T)
Ref Sequence ENSEMBL: ENSMUSP00000105928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110299]
Predicted Effect probably benign
Transcript: ENSMUST00000110299
AA Change: S119T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: S119T

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
4933414I15Rik A G 11: 50,942,598 V59A unknown Het
A2ml1 C A 6: 128,553,338 probably benign Het
Akap13 G A 7: 75,602,911 R263H probably benign Het
B3galt5 A G 16: 96,315,530 D121G possibly damaging Het
Becn1 A G 11: 101,291,535 probably benign Het
Carmil1 A T 13: 24,155,410 L150* probably null Het
Cep170 A T 1: 176,769,366 M475K probably benign Het
Cyp24a1 C T 2: 170,496,572 G68D probably damaging Het
Cyp3a44 A T 5: 145,805,737 I18N probably benign Het
Dmrt2 T C 19: 25,678,459 V474A probably benign Het
Dtnb A G 12: 3,596,691 D64G probably damaging Het
Epb41l3 T C 17: 69,247,573 S223P probably damaging Het
Ephb2 A G 4: 136,771,049 Y240H possibly damaging Het
Extl3 T C 14: 65,077,583 Y50C probably damaging Het
Fat3 A C 9: 15,915,577 S4360A possibly damaging Het
Fbxo9 A T 9: 78,087,553 V230E probably damaging Het
Frmd4a T C 2: 4,604,234 M971T probably benign Het
Gm7275 A G 16: 48,073,822 noncoding transcript Het
Hyal6 C T 6: 24,740,859 T337I probably damaging Het
Obsl1 C T 1: 75,487,713 V1650M probably damaging Het
Olfr143 A T 9: 38,253,936 D173V possibly damaging Het
Olfr341 A T 2: 36,479,567 S188T possibly damaging Het
Olfr619 T A 7: 103,603,882 I76N probably damaging Het
Olfr860 A T 9: 19,845,728 I297N possibly damaging Het
Pcdh7 A C 5: 57,913,322 E1114A probably damaging Het
Pde8a C T 7: 81,308,802 probably benign Het
Pdzrn4 A T 15: 92,769,850 S628C probably damaging Het
Pear1 C T 3: 87,756,264 G376S probably damaging Het
Plekha6 C T 1: 133,287,849 T644M possibly damaging Het
Plpp1 T A 13: 112,856,992 C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 T793M possibly damaging Het
Rdh13 A T 7: 4,445,498 L5Q possibly damaging Het
Rimbp2 G T 5: 128,774,295 D862E probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Scamp1 C T 13: 94,232,186 probably benign Het
Scamp3 A G 3: 89,180,734 T178A probably benign Het
Sh3tc1 A G 5: 35,706,284 V853A probably benign Het
Snrnp200 C T 2: 127,229,991 T1197M possibly damaging Het
Sult3a1 T C 10: 33,879,263 F275L probably benign Het
Tenm4 A T 7: 96,823,822 I905F probably damaging Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem45b G T 9: 31,427,983 C145* probably null Het
Unc5c G A 3: 141,788,982 R352H probably damaging Het
Vmn2r12 A G 5: 109,086,477 L623P probably damaging Het
Vmn2r68 T C 7: 85,221,739 M779V possibly damaging Het
Zfhx2 T C 14: 55,071,936 N902S 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
IGL02437:Tgm3 APN 2 130030041 splice site probably null
IGL02449:Tgm3 APN 2 130038609 critical splice donor 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
R7793:Tgm3 UTSW 2 130012410 critical splice donor site probably null
R7822:Tgm3 UTSW 2 130041899 missense probably benign 0.00
R7955:Tgm3 UTSW 2 130038480 missense probably benign
X0065:Tgm3 UTSW 2 130024510 missense probably benign 0.05
Posted On2015-04-16