Incidental Mutation 'R6966:Tgm4'
ID 542005
Institutional Source Beutler Lab
Gene Symbol Tgm4
Ensembl Gene ENSMUSG00000025787
Gene Name transglutaminase 4 (prostate)
Synonyms Eapa1, 9530008N10Rik, experimental autoimmune prostatitis antigen 1
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 122863806-122896623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122880207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 226 (D226E)
Ref Sequence ENSEMBL: ENSMUSP00000026893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026893] [ENSMUST00000215247] [ENSMUST00000217607]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026893
AA Change: D226E

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: D226E

DomainStartEndE-ValueType
Pfam:Transglut_N 8 118 4e-26 PFAM
TGc 247 340 6.25e-42 SMART
Pfam:Transglut_C 573 670 3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215247
Predicted Effect probably benign
Transcript: ENSMUST00000217607
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired copulatory plug formation, reduced fertilization and few litters sired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Cd84 A G 1: 171,713,976 (GRCm39) N325D possibly damaging Het
Chid1 T A 7: 141,076,297 (GRCm39) Y357F possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Drd1 T C 13: 54,207,564 (GRCm39) I210V probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Uap1l1 A G 2: 25,254,950 (GRCm39) I146T probably damaging Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Vwa7 T C 17: 35,236,072 (GRCm39) S9P probably benign Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T probably damaging Het
Other mutations in Tgm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Tgm4 APN 9 122,891,447 (GRCm39) unclassified probably benign
IGL01402:Tgm4 APN 9 122,880,519 (GRCm39) missense possibly damaging 0.82
IGL02000:Tgm4 APN 9 122,885,531 (GRCm39) missense probably damaging 1.00
IGL02120:Tgm4 APN 9 122,875,594 (GRCm39) missense probably damaging 0.98
IGL03130:Tgm4 APN 9 122,885,580 (GRCm39) missense probably damaging 1.00
IGL03188:Tgm4 APN 9 122,874,101 (GRCm39) missense probably null 0.06
R0329:Tgm4 UTSW 9 122,877,622 (GRCm39) critical splice donor site probably null
R0480:Tgm4 UTSW 9 122,891,484 (GRCm39) missense probably benign
R0644:Tgm4 UTSW 9 122,880,523 (GRCm39) missense probably damaging 1.00
R0990:Tgm4 UTSW 9 122,875,576 (GRCm39) missense probably benign 0.02
R1604:Tgm4 UTSW 9 122,874,129 (GRCm39) missense probably benign 0.39
R1644:Tgm4 UTSW 9 122,880,481 (GRCm39) missense probably damaging 1.00
R2056:Tgm4 UTSW 9 122,890,835 (GRCm39) missense probably damaging 1.00
R2058:Tgm4 UTSW 9 122,890,835 (GRCm39) missense probably damaging 1.00
R2059:Tgm4 UTSW 9 122,890,835 (GRCm39) missense probably damaging 1.00
R2076:Tgm4 UTSW 9 122,880,160 (GRCm39) missense probably benign 0.24
R2437:Tgm4 UTSW 9 122,877,614 (GRCm39) nonsense probably null
R4392:Tgm4 UTSW 9 122,895,817 (GRCm39) missense probably benign 0.10
R4407:Tgm4 UTSW 9 122,885,595 (GRCm39) missense probably damaging 1.00
R4752:Tgm4 UTSW 9 122,880,451 (GRCm39) missense probably damaging 1.00
R5288:Tgm4 UTSW 9 122,885,559 (GRCm39) missense probably damaging 1.00
R5365:Tgm4 UTSW 9 122,895,866 (GRCm39) missense probably damaging 1.00
R5386:Tgm4 UTSW 9 122,885,559 (GRCm39) missense probably damaging 1.00
R5790:Tgm4 UTSW 9 122,890,808 (GRCm39) missense probably damaging 0.98
R5890:Tgm4 UTSW 9 122,890,703 (GRCm39) missense probably damaging 1.00
R6102:Tgm4 UTSW 9 122,885,600 (GRCm39) missense probably benign
R6358:Tgm4 UTSW 9 122,885,583 (GRCm39) missense probably damaging 1.00
R6956:Tgm4 UTSW 9 122,893,768 (GRCm39) missense possibly damaging 0.93
R7091:Tgm4 UTSW 9 122,869,525 (GRCm39) missense probably damaging 1.00
R7258:Tgm4 UTSW 9 122,891,556 (GRCm39) missense probably benign 0.02
R7313:Tgm4 UTSW 9 122,891,556 (GRCm39) missense probably benign 0.02
R7369:Tgm4 UTSW 9 122,885,749 (GRCm39) critical splice donor site probably null
R7802:Tgm4 UTSW 9 122,880,401 (GRCm39) intron probably benign
R8219:Tgm4 UTSW 9 122,874,117 (GRCm39) missense probably benign
R8787:Tgm4 UTSW 9 122,890,910 (GRCm39) missense probably damaging 1.00
R8936:Tgm4 UTSW 9 122,869,541 (GRCm39) missense possibly damaging 0.92
R9045:Tgm4 UTSW 9 122,877,616 (GRCm39) missense possibly damaging 0.94
R9328:Tgm4 UTSW 9 122,885,697 (GRCm39) missense possibly damaging 0.93
R9359:Tgm4 UTSW 9 122,881,837 (GRCm39) missense probably damaging 1.00
R9403:Tgm4 UTSW 9 122,881,837 (GRCm39) missense probably damaging 1.00
R9471:Tgm4 UTSW 9 122,869,444 (GRCm39) missense probably benign
R9746:Tgm4 UTSW 9 122,875,634 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGTCTTACTATGTAGCTAGACCTGTTC -3'
(R):5'- TTAGTCACGCTTCGAGCTGG -3'

Sequencing Primer
(F):5'- GTAGCTAGACCTGTTCTTAAACTTGC -3'
(R):5'- TCTCAGTGCTGAAATGACCCAGG -3'
Posted On 2018-11-28