Incidental Mutation 'R3416:Tgm3'
ID 266792
Institutional Source Beutler Lab
Gene Symbol Tgm3
Ensembl Gene ENSMUSG00000027401
Gene Name transglutaminase 3, E polypeptide
Synonyms we, TG E
MMRRC Submission 040634-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3416 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 129854269-129892319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 129889692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 629 (V629M)
Ref Sequence ENSEMBL: ENSMUSP00000105928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110299]
AlphaFold Q08189
Predicted Effect possibly damaging
Transcript: ENSMUST00000110299
AA Change: V629M

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105928
Gene: ENSMUSG00000027401
AA Change: V629M

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 0.2754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (33/33)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik T C 10: 83,595,496 (GRCm39) probably null Het
Abi1 T C 2: 22,930,014 (GRCm39) S22G probably damaging Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Adnp2 T C 18: 80,171,373 (GRCm39) E1012G possibly damaging Het
Azin1 A T 15: 38,493,790 (GRCm39) S278T possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyb561d2 A G 9: 107,417,325 (GRCm39) L142P probably damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Fryl T C 5: 73,265,417 (GRCm39) Q510R possibly damaging Het
Gfra1 T C 19: 58,255,544 (GRCm39) Y301C probably damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Mfsd13a C T 19: 46,360,431 (GRCm39) R328C probably damaging Het
Mycs C T X: 5,380,810 (GRCm39) S90N possibly damaging Het
Or5p80 G A 7: 108,229,225 (GRCm39) V9I possibly damaging Het
Pcdha8 A T 18: 37,125,683 (GRCm39) Q55L probably benign Het
Pkhd1l1 A G 15: 44,410,760 (GRCm39) T2756A probably damaging Het
Prl8a8 A T 13: 27,695,532 (GRCm39) C71S probably damaging Het
Ralgapa1 T A 12: 55,817,398 (GRCm39) probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn4a A T 11: 106,221,239 (GRCm39) S807T probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Spata1 A T 3: 146,193,263 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Susd5 A G 9: 113,924,726 (GRCm39) D203G possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tha1 T C 11: 117,764,026 (GRCm39) D67G possibly damaging Het
Vmn2r120 T A 17: 57,816,241 (GRCm39) I705F possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zan T A 5: 137,433,982 (GRCm39) E2250D unknown Het
Zfp560 A T 9: 20,258,974 (GRCm39) Y629* probably null Het
Zftraf1 A T 15: 76,542,915 (GRCm39) probably null 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
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'- TGCCATCTAGTACTTAGGGCTG -3'
(R):5'- GGCCCACAAAGAATGAATCTGC -3'

Sequencing Primer
(F):5'- GAATGAAGTGGCCATCCTTTC -3'
(R):5'- TCTGCAAGGCCAGAGGGTAC -3'
Posted On 2015-02-18