Incidental Mutation 'R7513:Tgm3'
ID 582203
Institutional Source Beutler Lab
Gene Symbol Tgm3
Ensembl Gene ENSMUSG00000027401
Gene Name transglutaminase 3, E polypeptide
Synonyms we, TG E
MMRRC Submission 045586-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 129854269-129892319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129866324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 81 (T81A)
Ref Sequence ENSEMBL: ENSMUSP00000105928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110299]
AlphaFold Q08189
Predicted Effect probably benign
Transcript: ENSMUST00000110299
AA Change: T81A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: T81A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,765,771 (GRCm39) W694* probably null Het
Accs T C 2: 93,670,437 (GRCm39) N256S possibly damaging Het
Agmo C T 12: 37,294,352 (GRCm39) T100I probably benign Het
Alox8 T C 11: 69,078,670 (GRCm39) D341G probably benign Het
Apol7c T A 15: 77,409,911 (GRCm39) E345V possibly damaging Het
Arl5a A G 2: 52,302,157 (GRCm39) F86L possibly damaging Het
AU040320 A G 4: 126,686,057 (GRCm39) E211G probably benign Het
B020011L13Rik T A 1: 117,729,149 (GRCm39) C219S probably damaging Het
Btaf1 T A 19: 36,955,803 (GRCm39) L579Q probably benign Het
Cd84 T A 1: 171,712,185 (GRCm39) V267E probably benign Het
Cdcp3 G A 7: 130,873,800 (GRCm39) G1709R unknown Het
Clec11a T C 7: 43,955,780 (GRCm39) E89G probably benign Het
Csrnp2 C A 15: 100,380,297 (GRCm39) E331D probably benign Het
Cyp2d12 C A 15: 82,442,621 (GRCm39) H355N probably benign Het
Ddx24 C A 12: 103,385,365 (GRCm39) G413* probably null Het
Dhx38 G A 8: 110,287,221 (GRCm39) P249L probably benign Het
Dip2a A T 10: 76,149,069 (GRCm39) M233K probably benign Het
Dip2b T A 15: 100,105,629 (GRCm39) probably null Het
Dmbt1 T C 7: 130,692,242 (GRCm39) S1003P unknown Het
Dna2 A G 10: 62,807,747 (GRCm39) D1033G probably benign Het
Dnah5 T C 15: 28,370,561 (GRCm39) S2834P probably benign Het
Dnah7b T G 1: 46,163,506 (GRCm39) S437A probably benign Het
Eif5 A T 12: 111,506,686 (GRCm39) I93F probably damaging Het
Fbxo47 A G 11: 97,747,055 (GRCm39) F337S probably damaging Het
Helz T C 11: 107,546,941 (GRCm39) I1086T probably damaging Het
Ifi208 A T 1: 173,523,220 (GRCm39) R497* probably null Het
Igfn1 T G 1: 135,887,705 (GRCm39) D2453A probably damaging Het
Ighg2c A T 12: 113,252,471 (GRCm39) L27Q Het
Jak1 C T 4: 101,048,848 (GRCm39) C10Y probably damaging Het
Kif7 T A 7: 79,360,776 (GRCm39) N200Y possibly damaging Het
Ktn1 G C 14: 47,901,541 (GRCm39) A100P possibly damaging Het
Lrsam1 T C 2: 32,843,497 (GRCm39) D136G probably benign Het
Man2c1 T C 9: 57,046,683 (GRCm39) L648P probably benign Het
Mki67 T C 7: 135,294,952 (GRCm39) I3116V probably benign Het
Mmp10 A T 9: 7,508,128 (GRCm39) D418V probably damaging Het
Mrpl24 A T 3: 87,829,734 (GRCm39) T107S probably benign Het
Mycbpap T A 11: 94,394,382 (GRCm39) D296V probably damaging Het
Mycn C A 12: 12,989,743 (GRCm39) A218S probably benign Het
Myo1f G T 17: 33,794,788 (GRCm39) W9C probably damaging Het
Nckap1 T A 2: 80,332,635 (GRCm39) K1074N possibly damaging Het
Neb T C 2: 52,099,552 (GRCm39) D4766G possibly damaging Het
Nhsl1 T C 10: 18,399,700 (GRCm39) S275P probably damaging Het
Or2d3c A G 7: 106,526,483 (GRCm39) F61S possibly damaging Het
Or5k16 T A 16: 58,736,295 (GRCm39) K236N probably damaging Het
Pam G A 1: 97,780,910 (GRCm39) P514S possibly damaging Het
Pcdha4 C T 18: 37,086,392 (GRCm39) L192F probably damaging Het
Per1 T A 11: 68,996,397 (GRCm39) D800E probably benign Het
Plcg2 C A 8: 118,306,592 (GRCm39) N315K probably damaging Het
Plxnb2 T A 15: 89,042,525 (GRCm39) probably null Het
Pnpla1 A G 17: 29,077,781 (GRCm39) probably benign Het
Pptc7 A T 5: 122,446,192 (GRCm39) probably null Het
Psg26 G T 7: 18,209,225 (GRCm39) S394R probably benign Het
Psmc1 C A 12: 100,081,773 (GRCm39) T125K probably benign Het
Ptgis T A 2: 167,067,203 (GRCm39) M125L probably benign Het
Rbms1 A G 2: 60,589,165 (GRCm39) Y323H probably damaging Het
Rgl2 G A 17: 34,151,529 (GRCm39) R191Q probably benign Het
Sirpb1a G A 3: 15,476,503 (GRCm39) T98I possibly damaging Het
Sirpb1b C A 3: 15,607,200 (GRCm39) E361* probably null Het
Slc13a4 A T 6: 35,260,272 (GRCm39) probably null Het
Spag9 T C 11: 94,002,909 (GRCm39) S1140P probably damaging Het
Spata31e4 T A 13: 50,856,909 (GRCm39) I849N probably benign Het
Tas2r140 A G 6: 40,469,084 (GRCm39) N305D probably damaging Het
Tenm2 G A 11: 35,942,727 (GRCm39) A1314V probably benign Het
Timeless T C 10: 128,085,399 (GRCm39) V839A probably damaging Het
Tmem132a A G 19: 10,837,492 (GRCm39) I606T probably damaging Het
Tox T A 4: 6,741,507 (GRCm39) M158L probably benign Het
Trpc2 A T 7: 101,739,275 (GRCm39) M549L probably damaging Het
Trpm5 C T 7: 142,635,572 (GRCm39) R600Q possibly damaging Het
Trpv1 A G 11: 73,131,367 (GRCm39) N302D probably damaging Het
Ttn C T 2: 76,681,940 (GRCm39) R1019H Het
Ttn G T 2: 76,775,307 (GRCm39) H1958N unknown Het
Usp32 A T 11: 84,917,938 (GRCm39) Y769* probably null Het
Vim A T 2: 13,583,443 (GRCm39) Q255L possibly damaging Het
Vmn1r84 T C 7: 12,095,994 (GRCm39) H233R probably benign Het
Xirp2 T A 2: 67,341,108 (GRCm39) H1116Q possibly damaging Het
Zc3h18 G T 8: 123,134,993 (GRCm39) R580L unknown Het
Zfp267 T A 3: 36,218,792 (GRCm39) F272I possibly damaging Het
Zfp442 A T 2: 150,250,676 (GRCm39) C409S unknown Het
Zfy1 A T Y: 759,852 (GRCm39) I20K unknown Het
Other mutations in Tgm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Tgm3 APN 2 129,880,333 (GRCm39) missense probably damaging 1.00
IGL00924:Tgm3 APN 2 129,880,294 (GRCm39) missense probably damaging 1.00
IGL01469:Tgm3 APN 2 129,866,414 (GRCm39) missense probably damaging 1.00
IGL01722:Tgm3 APN 2 129,886,488 (GRCm39) missense probably damaging 0.99
IGL01787:Tgm3 APN 2 129,889,660 (GRCm39) missense possibly damaging 0.85
IGL02269:Tgm3 APN 2 129,866,438 (GRCm39) missense probably benign 0.02
IGL02437:Tgm3 APN 2 129,871,961 (GRCm39) splice site probably null
IGL02449:Tgm3 APN 2 129,880,529 (GRCm39) critical splice donor site probably null
IGL02992:Tgm3 APN 2 129,883,899 (GRCm39) missense probably damaging 1.00
tortellini UTSW 2 129,866,505 (GRCm39) critical splice donor site probably benign
ANU74:Tgm3 UTSW 2 129,890,310 (GRCm39) missense probably damaging 1.00
R0523:Tgm3 UTSW 2 129,886,582 (GRCm39) critical splice donor site probably null
R0833:Tgm3 UTSW 2 129,868,602 (GRCm39) splice site probably benign
R0834:Tgm3 UTSW 2 129,868,677 (GRCm39) missense probably benign 0.00
R0836:Tgm3 UTSW 2 129,868,602 (GRCm39) splice site probably benign
R0940:Tgm3 UTSW 2 129,854,326 (GRCm39) missense probably benign 0.00
R1354:Tgm3 UTSW 2 129,883,818 (GRCm39) missense probably benign
R1642:Tgm3 UTSW 2 129,889,702 (GRCm39) missense probably damaging 1.00
R1670:Tgm3 UTSW 2 129,883,688 (GRCm39) nonsense probably null
R1715:Tgm3 UTSW 2 129,868,734 (GRCm39) critical splice donor site probably null
R1944:Tgm3 UTSW 2 129,871,889 (GRCm39) missense probably damaging 0.99
R2104:Tgm3 UTSW 2 129,879,403 (GRCm39) missense probably benign 0.39
R3416:Tgm3 UTSW 2 129,889,692 (GRCm39) missense possibly damaging 0.84
R3417:Tgm3 UTSW 2 129,889,692 (GRCm39) missense possibly damaging 0.84
R4231:Tgm3 UTSW 2 129,886,509 (GRCm39) nonsense probably null
R4296:Tgm3 UTSW 2 129,880,333 (GRCm39) missense possibly damaging 0.77
R4794:Tgm3 UTSW 2 129,883,875 (GRCm39) missense probably benign 0.00
R4948:Tgm3 UTSW 2 129,890,240 (GRCm39) missense probably benign 0.00
R5034:Tgm3 UTSW 2 129,879,404 (GRCm39) missense possibly damaging 0.95
R5144:Tgm3 UTSW 2 129,890,202 (GRCm39) missense possibly damaging 0.95
R5786:Tgm3 UTSW 2 129,868,704 (GRCm39) nonsense probably null
R6030:Tgm3 UTSW 2 129,883,920 (GRCm39) missense probably damaging 1.00
R6030:Tgm3 UTSW 2 129,883,920 (GRCm39) missense probably damaging 1.00
R6182:Tgm3 UTSW 2 129,867,221 (GRCm39) nonsense probably null
R6219:Tgm3 UTSW 2 129,880,530 (GRCm39) critical splice donor site probably null
R6901:Tgm3 UTSW 2 129,883,890 (GRCm39) missense possibly damaging 0.95
R6969:Tgm3 UTSW 2 129,883,949 (GRCm39) missense probably benign 0.06
R6980:Tgm3 UTSW 2 129,868,697 (GRCm39) missense probably benign 0.17
R7282:Tgm3 UTSW 2 129,866,481 (GRCm39) missense probably benign 0.00
R7317:Tgm3 UTSW 2 129,890,211 (GRCm39) missense probably benign 0.09
R7517:Tgm3 UTSW 2 129,883,684 (GRCm39) missense probably benign 0.01
R7793:Tgm3 UTSW 2 129,854,330 (GRCm39) critical splice donor site probably null
R7822:Tgm3 UTSW 2 129,883,819 (GRCm39) missense probably benign 0.00
R7955:Tgm3 UTSW 2 129,880,400 (GRCm39) missense probably benign
R8747:Tgm3 UTSW 2 129,886,452 (GRCm39) missense probably benign 0.03
R8805:Tgm3 UTSW 2 129,889,702 (GRCm39) missense probably damaging 1.00
R8987:Tgm3 UTSW 2 129,880,403 (GRCm39) missense probably benign 0.00
R9029:Tgm3 UTSW 2 129,871,680 (GRCm39) missense probably benign 0.00
R9208:Tgm3 UTSW 2 129,865,618 (GRCm39) missense possibly damaging 0.76
R9423:Tgm3 UTSW 2 129,880,527 (GRCm39) missense probably benign 0.01
R9713:Tgm3 UTSW 2 129,867,229 (GRCm39) missense possibly damaging 0.74
X0065:Tgm3 UTSW 2 129,866,430 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACAGGTTGAGAAACTATGGACC -3'
(R):5'- ACACTCATTGTTTCTATCAGGGATG -3'

Sequencing Primer
(F):5'- ACTATGGACCTAGGGGGACTCAC -3'
(R):5'- GGAATGCCGTGCTTAAAGACCTAC -3'
Posted On 2019-10-17