Incidental Mutation 'R0644:Tgm4'
ID 57010
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 038829-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0644 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 122863806-122896623 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122880523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 308 (D308V)
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: D308V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026893
Gene: ENSMUSG00000025787
AA Change: D308V

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 noncoding transcript
Transcript: ENSMUST00000128572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171897
Predicted Effect probably benign
Transcript: ENSMUST00000215247
Predicted Effect probably benign
Transcript: ENSMUST00000217607
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,185,996 (GRCm39) I625N possibly damaging Het
Accs A G 2: 93,669,574 (GRCm39) L282P probably damaging Het
Acsbg1 T A 9: 54,517,110 (GRCm39) I568F probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp5po A T 16: 91,723,372 (GRCm39) V73E probably damaging Het
Bcl9 T C 3: 97,117,813 (GRCm39) S294G probably benign Het
C2cd5 A T 6: 142,958,950 (GRCm39) M1003K probably damaging Het
Col6a5 A G 9: 105,825,523 (GRCm39) probably null Het
Dera A T 6: 137,760,046 (GRCm39) T165S probably benign Het
Elf2 C T 3: 51,215,552 (GRCm39) V53M probably damaging Het
Entpd5 A T 12: 84,432,915 (GRCm39) F212L probably benign Het
Fndc3c1 T A X: 105,478,568 (GRCm39) T761S probably benign Het
Fsip2 A G 2: 82,807,241 (GRCm39) T1187A probably benign Het
Golga2 T C 2: 32,187,533 (GRCm39) S95P probably damaging Het
Hfm1 A T 5: 107,046,122 (GRCm39) probably null Het
Impdh2 G T 9: 108,440,836 (GRCm39) V112L possibly damaging Het
Kbtbd3 A T 9: 4,329,868 (GRCm39) M81L probably damaging Het
Lactb T C 9: 66,863,172 (GRCm39) R481G possibly damaging Het
Nacad C T 11: 6,549,486 (GRCm39) C1235Y possibly damaging Het
Or5d37 T A 2: 87,923,633 (GRCm39) M216L probably benign Het
Or5h26 G A 16: 58,987,979 (GRCm39) H176Y probably damaging Het
Osbpl6 C T 2: 76,425,184 (GRCm39) R878C probably damaging Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Rab27a T A 9: 73,002,705 (GRCm39) S211R probably benign Het
Scn9a C T 2: 66,363,405 (GRCm39) probably null Het
Shank2 T C 7: 143,965,586 (GRCm39) S1065P probably benign Het
Tent5d T C X: 106,914,251 (GRCm39) F111S probably damaging Het
Vps26c A G 16: 94,303,054 (GRCm39) L182P probably damaging Het
Ythdf3 T C 3: 16,259,056 (GRCm39) I412T possibly damaging Het
Zfp831 T C 2: 174,487,656 (GRCm39) V777A probably benign 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
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
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'- CTGCTCAGTTCCCACAGAAGCTAAC -3'
(R):5'- TGTGACACACAGCAACCTGTCTC -3'

Sequencing Primer
(F):5'- GCTAACAATCCCGCCCTG -3'
(R):5'- GGGCCAGAAGTAAATACCAATTCTTG -3'
Posted On 2013-07-11