Incidental Mutation 'IGL02222:Tent5b'
ID 285178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tent5b
Ensembl Gene ENSMUSG00000046694
Gene Name terminal nucleotidyltransferase 5B
Synonyms 4732473B16Rik, Fam46b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # IGL02222
Quality Score
Status
Chromosome 4
Chromosomal Location 133207443-133215249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133213864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 245 (V245A)
Ref Sequence ENSEMBL: ENSMUSP00000056015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]
AlphaFold Q8C152
Predicted Effect probably damaging
Transcript: ENSMUST00000051676
AA Change: V245A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: V245A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,322,045 (GRCm39) R1682W probably benign Het
Angptl6 A T 9: 20,785,203 (GRCm39) M450K probably damaging Het
Armc12 C A 17: 28,757,694 (GRCm39) N275K probably damaging Het
Cd27 T C 6: 125,211,495 (GRCm39) H144R probably damaging Het
Cenpf T C 1: 189,386,641 (GRCm39) K1880E probably benign Het
Dchs1 A T 7: 105,414,094 (GRCm39) I907N probably damaging Het
Dpy19l4 A C 4: 11,281,116 (GRCm39) F443C possibly damaging Het
Eif3i C T 4: 129,485,881 (GRCm39) D315N possibly damaging Het
Fam217a A G 13: 35,095,102 (GRCm39) L128P probably damaging Het
Fetub C T 16: 22,751,078 (GRCm39) L62F probably damaging Het
Fmn1 A T 2: 113,423,454 (GRCm39) I1047F probably damaging Het
G2e3 A G 12: 51,410,016 (GRCm39) H267R probably damaging Het
Gigyf2 A G 1: 87,338,585 (GRCm39) probably null Het
Gm10650 T C 3: 127,833,789 (GRCm39) noncoding transcript Het
Grip1 C T 10: 119,835,714 (GRCm39) T470I probably damaging Het
Hmcn1 T G 1: 150,682,152 (GRCm39) D466A probably benign Het
Lrrc63 T C 14: 75,323,580 (GRCm39) Y548C probably damaging Het
Naaa T C 5: 92,407,409 (GRCm39) probably benign Het
Parpbp T A 10: 87,975,947 (GRCm39) E55D possibly damaging Het
Pnpt1 A T 11: 29,109,327 (GRCm39) D691V possibly damaging Het
Pnpt1 G A 11: 29,080,842 (GRCm39) A29T probably benign Het
Pramel11 A G 4: 143,622,416 (GRCm39) M313T possibly damaging Het
Psg25 T C 7: 18,263,652 (GRCm39) N57S probably damaging Het
Selenbp2 T A 3: 94,607,269 (GRCm39) V168E probably damaging Het
Syne2 G A 12: 75,999,617 (GRCm39) E2337K probably damaging Het
Synj2 A G 17: 6,087,755 (GRCm39) T1269A probably benign Het
Tnfrsf13c C A 15: 82,107,364 (GRCm39) V144L probably damaging Het
Uspl1 G T 5: 149,130,854 (GRCm39) V132L probably benign Het
Vmn2r58 T A 7: 41,513,449 (GRCm39) Y398F possibly damaging Het
Vps13a T A 19: 16,659,539 (GRCm39) T1663S probably benign Het
Ythdc1 G A 5: 86,975,902 (GRCm39) R503H possibly damaging 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
R0345:Tent5b UTSW 4 133,213,522 (GRCm39) missense probably benign 0.01
R0515:Tent5b UTSW 4 133,213,450 (GRCm39) missense possibly damaging 0.92
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
Posted On 2015-04-16