Incidental Mutation 'R6622:Tent5a'
ID 524538
Institutional Source Beutler Lab
Gene Symbol Tent5a
Ensembl Gene ENSMUSG00000032265
Gene Name terminal nucleotidyltransferase 5A
Synonyms Fam46a, BAP014, D930050G01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.341) question?
Stock # R6622 (G1)
Quality Score 159.009
Status Not validated
Chromosome 9
Chromosomal Location 85202492-85209203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 85208509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 105 (R105S)
Ref Sequence ENSEMBL: ENSMUSP00000140869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]
AlphaFold D3Z5S8
Predicted Effect probably damaging
Transcript: ENSMUST00000034802
AA Change: R124S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: R124S

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
DUF1693 71 389 8.01e-244 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187711
AA Change: R105S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: R105S

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
DUF1693 52 370 3.9e-248 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A C 5: 81,942,606 (GRCm39) D1412A probably benign Het
Arhgap26 A G 18: 39,032,916 (GRCm39) probably benign Het
Card14 A G 11: 119,224,814 (GRCm39) M614V probably benign Het
Cbx2 A G 11: 118,919,961 (GRCm39) T509A probably damaging Het
Cep135 A G 5: 76,788,815 (GRCm39) D1136G probably benign Het
Cep170 T A 1: 176,583,898 (GRCm39) Q827L probably damaging Het
Clock A T 5: 76,389,801 (GRCm39) I349K probably damaging Het
Cnppd1 A T 1: 75,113,539 (GRCm39) V243E probably damaging Het
Cops3 A G 11: 59,723,960 (GRCm39) F93L probably damaging Het
Cplane1 C A 15: 8,273,706 (GRCm39) A2563D probably damaging Het
Cxxc5 T G 18: 35,992,372 (GRCm39) C258G possibly damaging Het
Cycs G A 6: 50,543,443 (GRCm39) probably benign Het
Cyp2c40 A T 19: 39,790,990 (GRCm39) H280Q probably damaging Het
Cyp4f14 C T 17: 33,133,619 (GRCm39) R79H probably benign Het
Dnajc27 A G 12: 4,153,114 (GRCm39) S197G probably benign Het
Dscam C T 16: 96,446,273 (GRCm39) G1456E probably benign Het
Dst G A 1: 34,218,332 (GRCm39) V1591I probably benign Het
Epha5 A G 5: 84,385,387 (GRCm39) S315P possibly damaging Het
Frmd4a A G 2: 4,610,873 (GRCm39) T1012A probably benign Het
Fxr2 G A 11: 69,532,416 (GRCm39) probably null Het
Hcn4 T A 9: 58,765,010 (GRCm39) V534E unknown Het
Hrh4 A G 18: 13,155,454 (GRCm39) Y331C probably damaging Het
Insyn1 A G 9: 58,406,533 (GRCm39) I148V probably benign Het
Kif16b T A 2: 142,554,362 (GRCm39) H812L probably benign Het
Krt14 T A 11: 100,094,786 (GRCm39) R451S probably benign Het
Man2b1 A G 8: 85,811,108 (GRCm39) T80A probably damaging Het
Nedd4l A G 18: 65,307,305 (GRCm39) T383A probably damaging Het
Pcdha9 T A 18: 37,131,707 (GRCm39) L259M possibly damaging Het
Pdgfd T C 9: 6,293,818 (GRCm39) C131R probably damaging Het
Prrc2a C G 17: 35,374,396 (GRCm39) R1418P probably damaging Het
Ptpra G T 2: 30,327,589 (GRCm39) E114D probably damaging Het
Ptprt A T 2: 161,395,760 (GRCm39) C1157S probably damaging Het
Rnf126 A T 10: 79,597,397 (GRCm39) probably null Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Sel1l3 A G 5: 53,297,202 (GRCm39) V748A probably damaging Het
Serinc5 T A 13: 92,825,194 (GRCm39) S208T probably benign Het
Sftpb A G 6: 72,282,639 (GRCm39) I74V possibly damaging Het
Slc22a14 A C 9: 118,999,643 (GRCm39) I516S possibly damaging Het
Slco2a1 G A 9: 102,951,704 (GRCm39) C411Y possibly damaging Het
Spata31f1e T A 4: 42,793,111 (GRCm39) L340F probably damaging Het
Tet3 G A 6: 83,380,426 (GRCm39) P581S probably benign Het
Tmem231 T C 8: 112,645,563 (GRCm39) D112G probably damaging Het
Tnrc6b T A 15: 80,763,385 (GRCm39) W296R probably damaging Het
Trpm1 T A 7: 63,890,343 (GRCm39) L982H probably damaging Het
Ttn C A 2: 76,550,862 (GRCm39) R23183I possibly damaging Het
Tuft1 T A 3: 94,542,726 (GRCm39) Y46F probably damaging Het
Vmn1r167 T A 7: 23,205,014 (GRCm39) M1L probably null Het
Zfp808 A G 13: 62,319,646 (GRCm39) R292G possibly damaging Het
Zp2 T C 7: 119,731,748 (GRCm39) E669G probably benign Het
Zp2 C T 7: 119,741,136 (GRCm39) M129I probably benign 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
R6539:Tent5a UTSW 9 85,208,614 (GRCm39) missense possibly damaging 0.75
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'- CACTATGGCCATACTGACGG -3'
(R):5'- AATGTGCTGAACTGGGAGC -3'

Sequencing Primer
(F):5'- AAGCCCATCAGGTGGCTTTAC -3'
(R):5'- CTGAACTGGGAGCAAGTGC -3'
Posted On 2018-06-22