Incidental Mutation 'IGL00773:Tceanc'
ID 14396
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tceanc
Ensembl Gene ENSMUSG00000051224
Gene Name transcription elongation factor A (SII) N-terminal and central domain containing
Synonyms LOC245695, A630018P17Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00773
Quality Score
Status
Chromosome X
Chromosomal Location 165282808-165301563 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165285857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 179 (L179F)
Ref Sequence ENSEMBL: ENSMUSP00000136691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112187] [ENSMUST00000112188] [ENSMUST00000180322]
AlphaFold Q3US16
Predicted Effect probably benign
Transcript: ENSMUST00000112187
Predicted Effect probably benign
Transcript: ENSMUST00000112188
AA Change: L179F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107806
Gene: ENSMUSG00000051224
AA Change: L179F

DomainStartEndE-ValueType
Pfam:Med26 30 78 2.3e-11 PFAM
Pfam:TFIIS_M 180 290 4.5e-32 PFAM
SCOP:d1tfi__ 296 351 3e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180322
AA Change: L179F

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136691
Gene: ENSMUSG00000051224
AA Change: L179F

DomainStartEndE-ValueType
Pfam:Med26 28 80 2.3e-11 PFAM
Pfam:TFIIS_M 178 292 7.7e-34 PFAM
SCOP:d1tfi__ 296 351 3e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,878,594 (GRCm39) probably benign Het
Aff1 C T 5: 103,931,943 (GRCm39) S195F probably damaging Het
Atm G T 9: 53,433,444 (GRCm39) H269N probably benign Het
Cdc25c A T 18: 34,880,294 (GRCm39) S147T probably benign Het
Cdnf A G 2: 3,520,392 (GRCm39) D57G possibly damaging Het
Cep170 T C 1: 176,582,965 (GRCm39) D1138G probably damaging Het
Cfap70 A G 14: 20,497,602 (GRCm39) S51P probably damaging Het
Csmd3 A G 15: 47,454,115 (GRCm39) M3577T probably damaging Het
Cyb5rl C T 4: 106,941,493 (GRCm39) A246V probably benign Het
Dcaf1 T A 9: 106,735,532 (GRCm39) S827T probably benign Het
Epha3 T A 16: 63,387,047 (GRCm39) Q862L probably damaging Het
Gm57858 A G 3: 36,089,486 (GRCm39) L146P probably damaging Het
Igsf10 A G 3: 59,238,960 (GRCm39) V407A probably benign Het
Myh2 T C 11: 67,085,247 (GRCm39) I1751T probably benign Het
Pcm1 T C 8: 41,727,314 (GRCm39) L528P probably damaging Het
Pla2g7 T G 17: 43,913,762 (GRCm39) I235S probably damaging Het
Plekhh2 C T 17: 84,914,296 (GRCm39) T1233M probably benign Het
Ptpn21 C T 12: 98,654,572 (GRCm39) M798I probably benign Het
Ptprz1 A G 6: 23,002,628 (GRCm39) K1573E probably benign Het
Rassf6 C T 5: 90,751,999 (GRCm39) V272M probably damaging Het
Rprd2 A T 3: 95,672,421 (GRCm39) F994Y probably damaging Het
Slc13a1 C T 6: 24,118,016 (GRCm39) M240I possibly damaging Het
Slc22a6 A T 19: 8,599,232 (GRCm39) I288F probably benign Het
Slc6a3 T A 13: 73,692,860 (GRCm39) I160N probably damaging Het
Slfn10-ps T A 11: 82,926,355 (GRCm39) noncoding transcript Het
Snx14 A T 9: 88,276,592 (GRCm39) D564E probably damaging Het
Tpm2 T C 4: 43,518,251 (GRCm39) K251E probably damaging Het
Trpm2 T A 10: 77,785,048 (GRCm39) R191* probably null Het
Trpm3 T A 19: 22,877,523 (GRCm39) M602K possibly damaging Het
Zbtb21 A T 16: 97,753,520 (GRCm39) D282E probably benign Het
Posted On 2012-12-06