Incidental Mutation 'R0833:Tgm3'
ID 77608
Institutional Source Beutler Lab
Gene Symbol Tgm3
Ensembl Gene ENSMUSG00000027401
Gene Name transglutaminase 3, E polypeptide
Synonyms we, TG E
MMRRC Submission 039012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0833 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129854269-129892319 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 129868602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110299]
AlphaFold Q08189
Predicted Effect probably benign
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.6%
Validation Efficiency 100% (97/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 87,000,931 (GRCm39) L41P probably damaging Het
3110082I17Rik A G 5: 139,349,875 (GRCm39) V58A possibly damaging Het
4932415M13Rik A T 17: 54,031,374 (GRCm39) noncoding transcript Het
Aldh1a7 C T 19: 20,679,607 (GRCm39) V390M probably damaging Het
Alg14 A G 3: 121,092,259 (GRCm39) H34R probably damaging Het
Ankrd27 A G 7: 35,307,772 (GRCm39) N337S probably damaging Het
Apoa2 T A 1: 171,052,948 (GRCm39) probably benign Het
Arl2 T G 19: 6,186,052 (GRCm39) K126T probably damaging Het
Ascc3 T C 10: 50,721,762 (GRCm39) W2072R probably benign Het
Astl T C 2: 127,184,339 (GRCm39) F21L probably benign Het
Asxl3 A G 18: 22,649,097 (GRCm39) D362G probably damaging Het
Bdp1 A T 13: 100,172,333 (GRCm39) H2094Q probably benign Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccdc85a T A 11: 28,533,296 (GRCm39) I83F probably damaging Het
Ccnt2 T A 1: 127,730,131 (GRCm39) M336K probably benign Het
Cd226 A C 18: 89,225,144 (GRCm39) probably benign Het
Ceacam23 C A 7: 17,638,906 (GRCm39) A301E possibly damaging Het
Ces1f A T 8: 93,996,652 (GRCm39) S214T probably damaging Het
Clip1 T C 5: 123,768,784 (GRCm39) D605G probably benign Het
Col26a1 A G 5: 136,794,154 (GRCm39) probably null Het
Crtc1 A G 8: 70,845,663 (GRCm39) V306A probably benign Het
D130043K22Rik G A 13: 25,047,563 (GRCm39) probably benign Het
D17H6S53E A T 17: 35,346,385 (GRCm39) probably null Het
Dnah11 G A 12: 118,160,397 (GRCm39) A111V probably benign Het
Dyrk2 T C 10: 118,697,027 (GRCm39) H77R probably benign Het
Epha3 A G 16: 63,423,882 (GRCm39) probably benign Het
Epn2 T C 11: 61,410,317 (GRCm39) N611S probably benign Het
Erich6 A C 3: 58,526,365 (GRCm39) probably benign Het
Fam217b T C 2: 178,062,782 (GRCm39) S249P probably benign Het
Fam219b A G 9: 57,445,299 (GRCm39) probably benign Het
Fryl A T 5: 73,246,424 (GRCm39) probably benign Het
Ftdc2 G A 16: 58,455,886 (GRCm39) S129L probably damaging Het
Gm14496 T C 2: 181,638,059 (GRCm39) W378R probably damaging Het
Gm57858 A G 3: 36,074,362 (GRCm39) probably benign Het
Gm8674 A T 13: 50,058,611 (GRCm39) noncoding transcript Het
Grap T A 11: 61,551,065 (GRCm39) D32E possibly damaging Het
Grk2 C A 19: 4,339,385 (GRCm39) L428F probably damaging Het
Grm8 T A 6: 27,363,178 (GRCm39) E779V probably damaging Het
Hipk1 A G 3: 103,661,612 (GRCm39) S670P probably damaging Het
Ilrun A T 17: 28,005,112 (GRCm39) S148R probably damaging Het
Itgae A T 11: 73,020,032 (GRCm39) M845L probably benign Het
Itih1 A T 14: 30,663,512 (GRCm39) V164E probably damaging Het
Itpka T A 2: 119,581,312 (GRCm39) N448K probably damaging Het
Jak3 A C 8: 72,136,622 (GRCm39) N643T probably damaging Het
Lrfn5 A C 12: 61,886,454 (GRCm39) T81P probably damaging Het
Lrrc45 T A 11: 120,609,019 (GRCm39) probably null Het
Marchf6 T C 15: 31,480,437 (GRCm39) Y562C probably benign Het
Mcrs1 T C 15: 99,141,330 (GRCm39) probably benign Het
Meis1 G A 11: 18,831,767 (GRCm39) H424Y possibly damaging Het
Mst1r A G 9: 107,791,975 (GRCm39) N837S probably benign Het
Mst1r G A 9: 107,790,366 (GRCm39) V660I probably benign Het
Mthfd2l T C 5: 91,094,801 (GRCm39) V90A probably damaging Het
Mtnr1a A T 8: 45,540,974 (GRCm39) I312F probably benign Het
Or10g3b T C 14: 52,586,835 (GRCm39) I223V probably benign Het
Or51g1 C A 7: 102,634,043 (GRCm39) L109F possibly damaging Het
Or8b12b T C 9: 37,684,372 (GRCm39) V139A probably benign Het
Otog C T 7: 45,918,786 (GRCm39) T954I possibly damaging Het
Pdcd6 A G 13: 74,464,443 (GRCm39) probably benign Het
Phlpp2 A G 8: 110,663,738 (GRCm39) T926A probably damaging Het
Plec GGCAGCAG GGCAGCAGCAG 15: 76,066,107 (GRCm39) probably benign Het
Plekha5 T A 6: 140,535,360 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Pramel18 G A 4: 101,767,294 (GRCm39) C181Y probably damaging Het
Pramel23 A T 4: 143,425,056 (GRCm39) M129K probably benign Het
Rab27b T C 18: 70,120,112 (GRCm39) probably benign Het
Rapsn T C 2: 90,867,153 (GRCm39) Y152H probably damaging Het
Rasd1 A T 11: 59,855,379 (GRCm39) F85I probably damaging Het
Rgs1 A T 1: 144,123,671 (GRCm39) S85T probably damaging Het
Samd9l T C 6: 3,372,725 (GRCm39) E1512G possibly damaging Het
Sgsm1 C T 5: 113,427,050 (GRCm39) A127T probably benign Het
Shc1 A G 3: 89,330,276 (GRCm39) D70G probably damaging Het
Slc26a1 T A 5: 108,821,389 (GRCm39) T167S probably benign Het
Slc26a7 A T 4: 14,593,873 (GRCm39) Y81N probably damaging Het
Slc2a12 T C 10: 22,577,915 (GRCm39) probably benign Het
Slc30a7 T A 3: 115,783,789 (GRCm39) probably null Het
Slc44a5 T C 3: 153,971,111 (GRCm39) S654P probably damaging Het
Stard9 T G 2: 120,527,480 (GRCm39) S1246A possibly damaging Het
Stxbp5 A T 10: 9,740,843 (GRCm39) S116R probably damaging Het
Syvn1 C T 19: 6,102,483 (GRCm39) P517L probably benign Het
Tas2r105 T C 6: 131,664,393 (GRCm39) I12V probably benign Het
Tas2r121 A G 6: 132,677,325 (GRCm39) S216P probably damaging Het
Tcof1 T C 18: 60,978,904 (GRCm39) D48G probably damaging Het
Tle2 T C 10: 81,424,781 (GRCm39) F667L probably damaging Het
Tnfaip3 C A 10: 18,878,697 (GRCm39) A704S probably benign Het
Trabd2b A G 4: 114,437,519 (GRCm39) Q232R probably benign Het
Ttc28 T A 5: 111,378,947 (GRCm39) I1144N probably damaging Het
Ucp3 T A 7: 100,128,748 (GRCm39) C25* probably null Het
Ugt3a1 A G 15: 9,370,236 (GRCm39) D460G probably damaging Het
Urb1 T C 16: 90,592,336 (GRCm39) D308G possibly damaging Het
Ush1g G T 11: 115,209,694 (GRCm39) R167S possibly damaging Het
Vav3 A G 3: 109,554,995 (GRCm39) N81S possibly damaging Het
Vmn2r108 A T 17: 20,691,721 (GRCm39) D267E probably benign Het
Zng1 A G 19: 24,918,203 (GRCm39) probably benign 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
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
R7513:Tgm3 UTSW 2 129,866,324 (GRCm39) missense probably benign 0.00
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'- TGAGAGTGGACTGCAATGTGCC -3'
(R):5'- TGATGGAGCAGAACTTCTCCTCCC -3'

Sequencing Primer
(F):5'- GGACTGCAATGTGCCATCTC -3'
(R):5'- attggcaaaatgggcaagg -3'
Posted On 2013-10-16