Incidental Mutation 'R0515:Tent5b'
ID 48180
Institutional Source Beutler Lab
Gene Symbol Tent5b
Ensembl Gene ENSMUSG00000046694
Gene Name terminal nucleotidyltransferase 5B
Synonyms 4732473B16Rik, Fam46b
MMRRC Submission 038709-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R0515 (G1)
Quality Score 95
Status Validated
Chromosome 4
Chromosomal Location 133207443-133215249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133213450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 107 (H107L)
Ref Sequence ENSEMBL: ENSMUSP00000056015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]
AlphaFold Q8C152
Predicted Effect possibly damaging
Transcript: ENSMUST00000051676
AA Change: H107L

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: H107L

DomainStartEndE-ValueType
low complexity region 15 44 N/A INTRINSIC
DUF1693 52 372 2.52e-218 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123169
Predicted Effect probably benign
Transcript: ENSMUST00000125541
SMART Domains Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596

DomainStartEndE-ValueType
low complexity region 20 54 N/A INTRINSIC
low complexity region 72 124 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132840
Meta Mutation Damage Score 0.4847 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
App C T 16: 84,900,232 (GRCm39) probably benign Het
Arhgap11a G A 2: 113,667,816 (GRCm39) T395I possibly damaging Het
Arhgef38 T G 3: 132,855,301 (GRCm39) H262P probably damaging Het
Cd96 A G 16: 45,884,268 (GRCm39) probably benign Het
Cfap57 A G 4: 118,477,599 (GRCm39) S2P probably damaging Het
Cltc A G 11: 86,599,865 (GRCm39) S948P probably benign Het
Cyp3a41a A T 5: 145,654,810 (GRCm39) H30Q probably damaging Het
Dcp2 C T 18: 44,532,798 (GRCm39) L105F probably benign Het
Dennd4c T C 4: 86,731,703 (GRCm39) V887A possibly damaging Het
Dnaaf9 A G 2: 130,582,408 (GRCm39) V515A probably damaging Het
Gm11360 T A 13: 28,140,143 (GRCm39) D2E probably damaging Het
Gpank1 G T 17: 35,342,475 (GRCm39) A149S probably damaging Het
Gtf2i C A 5: 134,271,773 (GRCm39) S792I probably damaging Het
Hvcn1 A G 5: 122,371,582 (GRCm39) N41D probably damaging Het
Klk1b5 A G 7: 43,867,957 (GRCm39) Y43C probably damaging Het
Lmtk2 A G 5: 144,111,809 (GRCm39) D843G possibly damaging Het
Lrriq1 A T 10: 102,904,829 (GRCm39) probably null Het
Mapk8ip1 A T 2: 92,217,701 (GRCm39) I198N possibly damaging Het
Mill1 T C 7: 17,998,798 (GRCm39) V336A probably benign Het
Mroh7 T A 4: 106,548,861 (GRCm39) M1001L probably benign Het
Nfe2 T A 15: 103,157,854 (GRCm39) T46S probably null Het
Or8b40 T C 9: 38,027,313 (GRCm39) S74P probably damaging Het
Or9q1 T C 19: 13,805,185 (GRCm39) S192G probably damaging Het
Parp4 T C 14: 56,851,124 (GRCm39) V709A probably damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Prex2 A T 1: 11,270,098 (GRCm39) Q1261L probably damaging Het
Prl8a8 T A 13: 27,692,350 (GRCm39) I214L probably damaging Het
Rictor C T 15: 6,798,782 (GRCm39) T343M probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Siglecf T C 7: 43,005,055 (GRCm39) probably null Het
Slco1b2 T C 6: 141,615,136 (GRCm39) F347S possibly damaging Het
Sox13 A T 1: 133,311,457 (GRCm39) Y592N probably damaging Het
Synj1 C T 16: 90,790,910 (GRCm39) A84T possibly damaging Het
Trpv5 T A 6: 41,651,145 (GRCm39) probably benign Het
Tshz1 A G 18: 84,034,090 (GRCm39) V106A probably benign Het
Other mutations in Tent5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Tent5b APN 4 133,213,833 (GRCm39) splice site probably null
IGL01871:Tent5b APN 4 133,213,620 (GRCm39) missense possibly damaging 0.89
IGL02218:Tent5b APN 4 133,213,462 (GRCm39) missense probably damaging 1.00
IGL02222:Tent5b APN 4 133,213,864 (GRCm39) missense probably damaging 0.99
R0345:Tent5b UTSW 4 133,213,522 (GRCm39) missense probably benign 0.01
R0843:Tent5b UTSW 4 133,213,842 (GRCm39) missense probably damaging 1.00
R1240:Tent5b UTSW 4 133,213,815 (GRCm39) missense probably benign 0.01
R2042:Tent5b UTSW 4 133,213,924 (GRCm39) missense possibly damaging 0.82
R4328:Tent5b UTSW 4 133,213,914 (GRCm39) nonsense probably null
R4811:Tent5b UTSW 4 133,213,681 (GRCm39) missense probably benign 0.01
R4868:Tent5b UTSW 4 133,213,393 (GRCm39) critical splice acceptor site probably null
R5056:Tent5b UTSW 4 133,207,749 (GRCm39) missense possibly damaging 0.91
R6360:Tent5b UTSW 4 133,214,067 (GRCm39) missense probably damaging 0.99
R6454:Tent5b UTSW 4 133,207,720 (GRCm39) missense probably damaging 1.00
R7017:Tent5b UTSW 4 133,213,545 (GRCm39) missense possibly damaging 0.95
R7186:Tent5b UTSW 4 133,213,518 (GRCm39) missense probably damaging 1.00
R7315:Tent5b UTSW 4 133,214,395 (GRCm39) missense probably damaging 1.00
R8410:Tent5b UTSW 4 133,214,362 (GRCm39) missense possibly damaging 0.95
R9093:Tent5b UTSW 4 133,214,352 (GRCm39) missense probably damaging 0.99
R9361:Tent5b UTSW 4 133,213,461 (GRCm39) missense probably damaging 1.00
Z1176:Tent5b UTSW 4 133,213,993 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCTTCTCCAGATTGGCAAATCG -3'
(R):5'- GCACACTTTGACCAGCTTCTGCAC -3'

Sequencing Primer
(F):5'- TTGGCAAATCGAGGCTTAGC -3'
(R):5'- AGCTTCTGCACGTAGGCTTC -3'
Posted On 2013-06-12