Incidental Mutation 'R9403:Tgm4'
ID 711354
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R9403 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 122863806-122896623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 122881837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 344 (S344R)
Ref Sequence ENSEMBL: ENSMUSP00000026893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026893] [ENSMUST00000215247] [ENSMUST00000217607]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026893
AA Change: S344R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: S344R

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: 99.7%
  • 20x: 99.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Apoa5 G C 9: 46,181,944 (GRCm39) R340P probably damaging Het
Cyp3a41a T A 5: 145,639,008 (GRCm39) Y320F probably damaging Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dpys C G 15: 39,691,467 (GRCm39) W285S probably damaging Het
Fam187b T C 7: 30,676,515 (GRCm39) V8A Het
Fbn2 T C 18: 58,199,179 (GRCm39) E1363G probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm5591 T A 7: 38,219,572 (GRCm39) M434L probably benign Het
Gm5591 T C 7: 38,221,680 (GRCm39) T130A probably damaging Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Kcnma1 T A 14: 23,593,145 (GRCm39) I280L probably benign Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mkln1 T C 6: 31,409,905 (GRCm39) L181P probably damaging Het
Mms22l T C 4: 24,580,204 (GRCm39) probably null Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Mylk C A 16: 34,696,012 (GRCm39) S249* probably null Het
Naa35 G A 13: 59,748,817 (GRCm39) A150T possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nup205 G A 6: 35,176,909 (GRCm39) R635H probably benign Het
Nup50l T G 6: 96,142,280 (GRCm39) T255P probably benign Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Padi3 T C 4: 140,537,843 (GRCm39) I26V probably benign Het
Polq T C 16: 36,882,215 (GRCm39) S1460P probably benign Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rergl T A 6: 139,471,852 (GRCm39) Y99F possibly damaging Het
Rptn C A 3: 93,302,349 (GRCm39) H22N probably benign Het
Semp2l2b C T 10: 21,943,840 (GRCm39) D47N possibly damaging Het
Sh2b1 ACCAGCTCAGCCACGGGG ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG 7: 126,066,747 (GRCm39) probably benign Het
Sh2b1 TGGGGACCAGCTCAGCCACGGGGACCAGCTC TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,742 (GRCm39) probably benign Het
Sh2b1 GGACCAGCTCAG GGACCAGCTCAGTCACGGTGACCAGCTCAG 7: 126,066,745 (GRCm39) probably null Het
Slc2a3 A C 6: 122,713,569 (GRCm39) I214M probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Trpm6 C A 19: 18,810,016 (GRCm39) D1137E possibly damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Zfp383 T C 7: 29,614,684 (GRCm39) F313S possibly 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
R6966:Tgm4 UTSW 9 122,880,207 (GRCm39) missense possibly damaging 0.68
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
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'- TGTTGACAAGGGTTCCCACC -3'
(R):5'- CGTTTGAAAATGTGAGTTGTACCTCC -3'

Sequencing Primer
(F):5'- CTTCAGAACAACCTTAGAGGGCTATG -3'
(R):5'- GAAAATGTGAGTTGTACCTCCCTTCC -3'
Posted On 2022-05-16