Incidental Mutation 'IGL01863:Tent5c'
ID 178431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tent5c
Ensembl Gene ENSMUSG00000044468
Gene Name terminal nucleotidyltransferase 5C
Synonyms 4930431B09Rik, Fam46c
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01863
Quality Score
Status
Chromosome 3
Chromosomal Location 100375373-100396508 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100379980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 259 (D259N)
Ref Sequence ENSEMBL: ENSMUSP00000056872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061455]
AlphaFold Q5SSF7
Predicted Effect probably benign
Transcript: ENSMUST00000061455
AA Change: D259N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: D259N

DomainStartEndE-ValueType
DUF1693 17 336 3.33e-241 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139833
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,215,907 (GRCm39) I326F possibly damaging Het
Aimp1 T C 3: 132,377,853 (GRCm39) T171A probably benign Het
Ash1l T A 3: 88,892,813 (GRCm39) L1564* probably null Het
Atp1a1 G T 3: 101,499,205 (GRCm39) Y131* probably null Het
Celsr2 T C 3: 108,301,338 (GRCm39) E2686G probably benign Het
Cyp4f18 A G 8: 72,743,770 (GRCm39) V395A possibly damaging Het
Dnaaf11 A T 15: 66,268,823 (GRCm39) probably benign Het
Ephb2 T C 4: 136,387,088 (GRCm39) Q713R probably benign Het
Esf1 A T 2: 139,962,599 (GRCm39) M824K probably benign Het
Fat4 T C 3: 39,024,768 (GRCm39) probably benign Het
Gem A G 4: 11,705,980 (GRCm39) I23V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Il6st A G 13: 112,640,744 (GRCm39) E779G possibly damaging Het
Lama3 T A 18: 12,552,993 (GRCm39) probably benign Het
Lipi A C 16: 75,347,114 (GRCm39) I435R probably damaging Het
Odad2 T C 18: 7,222,617 (GRCm39) T551A probably damaging Het
Omg C T 11: 79,393,050 (GRCm39) M269I probably benign Het
Optn A T 2: 5,026,298 (GRCm39) probably benign Het
Or5ae2 T C 7: 84,505,619 (GRCm39) L14P probably damaging Het
Pex1 A G 5: 3,656,066 (GRCm39) T298A probably benign Het
Rab27b T A 18: 70,122,625 (GRCm39) R111S probably damaging Het
Rhbdf1 T G 11: 32,163,484 (GRCm39) E329D probably benign Het
Slc2a13 T C 15: 91,400,695 (GRCm39) I176V probably benign Het
Slc30a1 T A 1: 191,641,196 (GRCm39) C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 (GRCm38) C509S probably damaging Het
Slfn9 T C 11: 82,872,151 (GRCm39) R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 (GRCm39) I782T possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps33b T C 7: 79,924,059 (GRCm39) probably null Het
Wrap73 A G 4: 154,229,790 (GRCm39) I54V probably benign Het
Other mutations in Tent5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Tent5c APN 3 100,380,672 (GRCm39) missense probably damaging 0.96
IGL01314:Tent5c APN 3 100,380,490 (GRCm39) missense probably benign 0.18
IGL01409:Tent5c APN 3 100,380,485 (GRCm39) missense probably damaging 1.00
IGL01817:Tent5c APN 3 100,380,171 (GRCm39) missense probably damaging 1.00
IGL01992:Tent5c APN 3 100,379,946 (GRCm39) missense probably damaging 1.00
IGL02436:Tent5c APN 3 100,379,823 (GRCm39) missense probably benign 0.43
R0111:Tent5c UTSW 3 100,380,102 (GRCm39) missense probably damaging 1.00
R0529:Tent5c UTSW 3 100,379,686 (GRCm39) missense probably benign 0.36
R1196:Tent5c UTSW 3 100,380,316 (GRCm39) missense possibly damaging 0.73
R1242:Tent5c UTSW 3 100,380,192 (GRCm39) missense probably damaging 1.00
R4671:Tent5c UTSW 3 100,380,515 (GRCm39) missense probably benign 0.44
R5252:Tent5c UTSW 3 100,380,024 (GRCm39) missense probably damaging 1.00
R6730:Tent5c UTSW 3 100,380,273 (GRCm39) missense probably benign 0.07
R8205:Tent5c UTSW 3 100,380,138 (GRCm39) missense probably benign 0.04
R8282:Tent5c UTSW 3 100,380,327 (GRCm39) missense probably damaging 1.00
R8483:Tent5c UTSW 3 100,379,784 (GRCm39) missense probably damaging 1.00
R8883:Tent5c UTSW 3 100,379,707 (GRCm39) missense probably benign 0.01
R9052:Tent5c UTSW 3 100,380,618 (GRCm39) missense probably benign 0.12
R9259:Tent5c UTSW 3 100,379,640 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07