Incidental Mutation 'R6539:Tent5a'
ID 520604
Institutional Source Beutler Lab
Gene Symbol Tent5a
Ensembl Gene ENSMUSG00000032265
Gene Name terminal nucleotidyltransferase 5A
Synonyms Fam46a, BAP014, D930050G01Rik
MMRRC Submission 044665-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R6539 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 85202492-85209203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85208614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 70 (I70V)
Ref Sequence ENSEMBL: ENSMUSP00000140869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]
AlphaFold D3Z5S8
Predicted Effect possibly damaging
Transcript: ENSMUST00000034802
AA Change: I89V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: I89V

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
DUF1693 71 389 8.01e-244 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187711
AA Change: I70V

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: I70V

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
DUF1693 52 370 3.9e-248 SMART
Meta Mutation Damage Score 0.2365 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (46/46)
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G A 8: 25,272,616 (GRCm39) A513V possibly damaging Het
Ano8 T C 8: 71,937,127 (GRCm39) D147G probably damaging Het
Apba1 A G 19: 23,913,924 (GRCm39) D649G probably damaging Het
Atp6v0d1 T C 8: 106,251,606 (GRCm39) I329V probably benign Het
Card6 T A 15: 5,134,873 (GRCm39) N110I probably damaging Het
Cfap410 A G 10: 77,820,322 (GRCm39) T231A probably benign Het
Chn2 T A 6: 54,150,446 (GRCm39) probably null Het
Cyp46a1 G A 12: 108,319,416 (GRCm39) probably null Het
Daam2 T A 17: 49,776,739 (GRCm39) H782L probably damaging Het
Defa26 A G 8: 22,108,262 (GRCm39) I22V possibly damaging Het
Dlk1 A G 12: 109,426,245 (GRCm39) M278V probably benign Het
Dync2h1 T C 9: 7,159,478 (GRCm39) probably null Het
Ehmt1 T A 2: 24,694,779 (GRCm39) H1056L probably damaging Het
Ephb3 G A 16: 21,040,218 (GRCm39) D527N probably benign Het
Flt1 T C 5: 147,515,186 (GRCm39) K1079E probably benign Het
Fndc3b C T 3: 27,592,206 (GRCm39) G231R probably benign Het
Gm4924 T A 10: 82,214,358 (GRCm39) probably benign Het
Ifrd1 G A 12: 40,253,434 (GRCm39) A426V probably damaging Het
Ift140 T C 17: 25,313,643 (GRCm39) L1358P possibly damaging Het
Igkv5-37 A T 6: 69,940,800 (GRCm39) S16T probably benign Het
Map3k9 A G 12: 81,778,966 (GRCm39) L449P probably damaging Het
Mdm1 T C 10: 117,986,863 (GRCm39) probably null Het
Mmrn1 A T 6: 60,964,168 (GRCm39) T1056S probably benign Het
Mroh2b C T 15: 4,935,056 (GRCm39) H164Y probably damaging Het
Muc16 T C 9: 18,548,621 (GRCm39) T5891A probably benign Het
Nagpa T C 16: 5,021,565 (GRCm39) E62G possibly damaging Het
Nek10 T A 14: 14,860,789 (GRCm38) V475D possibly damaging Het
Or4c101 T C 2: 88,389,864 (GRCm39) F6S probably damaging Het
Or5ac15 A C 16: 58,940,114 (GRCm39) S106R probably damaging Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Parvg T A 15: 84,225,541 (GRCm39) D349E probably damaging Het
Pitpna A G 11: 75,489,127 (GRCm39) Y58C probably damaging Het
Ppp4r3b T A 11: 29,168,503 (GRCm39) D73E probably benign Het
Preb A G 5: 31,113,420 (GRCm39) V338A probably benign Het
Sec23a T C 12: 59,031,998 (GRCm39) T411A probably benign Het
Smc6 A G 12: 11,347,011 (GRCm39) probably null Het
Stxbp5l A G 16: 36,950,177 (GRCm39) M1056T probably damaging Het
Tbcd T A 11: 121,447,813 (GRCm39) probably null Het
Tpx2 G T 2: 152,718,518 (GRCm39) E174* probably null Het
Trpc4ap G T 2: 155,478,178 (GRCm39) P663T probably benign Het
Unc5cl G A 17: 48,772,045 (GRCm39) G441D probably damaging Het
Xrcc2 G T 5: 25,897,530 (GRCm39) R140S probably benign Het
Zfc3h1 G A 10: 115,247,907 (GRCm39) E1037K probably benign Het
Zfhx4 A T 3: 5,309,168 (GRCm39) Q798L probably damaging Het
Zfp94 G A 7: 24,002,716 (GRCm39) T236M probably damaging Het
Other mutations in Tent5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Tent5a APN 9 85,206,806 (GRCm39) missense possibly damaging 0.94
IGL01135:Tent5a APN 9 85,208,652 (GRCm39) missense probably damaging 0.97
IGL01724:Tent5a APN 9 85,207,103 (GRCm39) missense probably damaging 0.99
IGL02798:Tent5a APN 9 85,206,937 (GRCm39) missense probably damaging 1.00
R0482:Tent5a UTSW 9 85,207,108 (GRCm39) missense probably damaging 1.00
R2697:Tent5a UTSW 9 85,206,793 (GRCm39) missense possibly damaging 0.48
R4458:Tent5a UTSW 9 85,208,527 (GRCm39) missense possibly damaging 0.75
R4494:Tent5a UTSW 9 85,207,100 (GRCm39) missense probably damaging 0.99
R5245:Tent5a UTSW 9 85,208,401 (GRCm39) missense possibly damaging 0.46
R6622:Tent5a UTSW 9 85,208,509 (GRCm39) missense probably damaging 0.99
R7253:Tent5a UTSW 9 85,208,770 (GRCm39) missense probably benign 0.01
R7317:Tent5a UTSW 9 85,206,670 (GRCm39) missense possibly damaging 0.81
R8554:Tent5a UTSW 9 85,208,784 (GRCm39) missense possibly damaging 0.85
R8770:Tent5a UTSW 9 85,208,803 (GRCm39) missense probably benign 0.01
R9231:Tent5a UTSW 9 85,208,388 (GRCm39) missense possibly damaging 0.82
R9357:Tent5a UTSW 9 85,208,672 (GRCm39) missense probably benign 0.15
R9604:Tent5a UTSW 9 85,206,677 (GRCm39) missense probably benign 0.16
R9708:Tent5a UTSW 9 85,207,267 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- TGAGGTCCAGGTCCTTGTAG -3'
(R):5'- CTTTCGGAGGGCACTACATG -3'

Sequencing Primer
(F):5'- AGGTCCAGGTCCTTGTAGCCTAG -3'
(R):5'- CGAAGGGTACTTTGCCATGGC -3'
Posted On 2018-06-06