Incidental Mutation 'R5499:Tcea2'
ID 430503
Institutional Source Beutler Lab
Gene Symbol Tcea2
Ensembl Gene ENSMUSG00000059540
Gene Name transcription elongation factor A (SII), 2
Synonyms SII-T1, Tceat, S-II-T1
MMRRC Submission 043060-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R5499 (G1)
Quality Score 120
Status Not validated
Chromosome 2
Chromosomal Location 181322103-181329864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181322227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 10 (I10V)
Ref Sequence ENSEMBL: ENSMUSP00000099331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103042] [ENSMUST00000129745]
AlphaFold Q9QVN7
Predicted Effect probably damaging
Transcript: ENSMUST00000103042
AA Change: I10V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099331
Gene: ENSMUSG00000059540
AA Change: I10V

DomainStartEndE-ValueType
TFS2N 7 81 2.51e-25 SMART
low complexity region 114 129 N/A INTRINSIC
TFS2M 136 237 4.14e-51 SMART
ZnF_C2C2 259 298 7.37e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126623
Predicted Effect probably benign
Transcript: ENSMUST00000129006
SMART Domains Protein: ENSMUSP00000120083
Gene: ENSMUSG00000059540

DomainStartEndE-ValueType
Pfam:Med26 27 77 5.1e-17 PFAM
low complexity region 112 127 N/A INTRINSIC
TFS2M 134 235 4.14e-51 SMART
ZnF_C2C2 257 296 7.37e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129686
Predicted Effect probably benign
Transcript: ENSMUST00000129745
SMART Domains Protein: ENSMUSP00000119646
Gene: ENSMUSG00000059540

DomainStartEndE-ValueType
Pfam:Med26 21 73 2.1e-20 PFAM
low complexity region 107 122 N/A INTRINSIC
TFS2M 129 230 4.14e-51 SMART
ZnF_C2C2 252 291 7.37e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136145
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,432,137 (GRCm39) E74K unknown Het
Adam10 A T 9: 70,647,399 (GRCm39) H176L probably benign Het
Anapc5 C T 5: 122,926,476 (GRCm39) E621K probably damaging Het
Asf1a T A 10: 53,482,266 (GRCm39) L26Q probably damaging Het
Atxn1l A G 8: 110,458,264 (GRCm39) L666P probably damaging Het
Cep290 G A 10: 100,373,515 (GRCm39) R1265H probably damaging Het
Chd8 A G 14: 52,441,888 (GRCm39) probably null Het
Ctse T A 1: 131,600,251 (GRCm39) Y333* probably null Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dnai7 A T 6: 145,123,157 (GRCm39) W570R probably damaging Het
Ercc6 G A 14: 32,238,916 (GRCm39) M1I probably null Het
Fbxl4 A G 4: 22,386,017 (GRCm39) E208G probably damaging Het
Fstl4 G T 11: 52,959,374 (GRCm39) M138I probably benign Het
Galnt17 T A 5: 130,929,466 (GRCm39) Q447L probably benign Het
H2-Q7 T A 17: 35,658,916 (GRCm39) C122* probably null Het
Herpud1 C T 8: 95,116,041 (GRCm39) L69F probably damaging Het
Hnrnpa3 A G 2: 75,495,584 (GRCm39) Y365C probably benign Het
Ino80 A T 2: 119,272,128 (GRCm39) V553E probably damaging Het
Kif13a A G 13: 46,986,212 (GRCm39) Y38H probably damaging Het
Klk1b21 A G 7: 43,755,100 (GRCm39) I132V probably benign Het
Lamb2 T C 9: 108,365,001 (GRCm39) S1252P possibly damaging Het
Lct T A 1: 128,214,414 (GRCm39) D1786V probably damaging Het
Lrig2 T A 3: 104,368,873 (GRCm39) M572L probably benign Het
Lrp1 C T 10: 127,408,813 (GRCm39) V1710I possibly damaging Het
Mmp12 C A 9: 7,353,000 (GRCm39) S250R probably benign Het
Mycbp2 T C 14: 103,479,615 (GRCm39) D1226G probably damaging Het
Myocd A G 11: 65,069,575 (GRCm39) I755T possibly damaging Het
Nup210l T C 3: 90,081,677 (GRCm39) L1003P probably damaging Het
Or11h23 G A 14: 50,948,324 (GRCm39) C179Y probably damaging Het
Or1af1 T C 2: 37,109,777 (GRCm39) I92T possibly damaging Het
Or52e8b A T 7: 104,674,184 (GRCm39) M1K probably null Het
Palmd T A 3: 116,717,481 (GRCm39) M339L probably benign Het
Phtf1 T A 3: 103,898,491 (GRCm39) N307K probably benign Het
Ppp2r3c T C 12: 55,335,411 (GRCm39) I243V probably benign Het
Ptafr A G 4: 132,306,646 (GRCm39) E12G probably damaging Het
Rpgrip1 T A 14: 52,378,042 (GRCm39) N463K probably benign Het
Sgcb T C 5: 73,801,748 (GRCm39) N39S probably damaging Het
Skint5 A G 4: 113,799,700 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn8 C A 11: 82,895,042 (GRCm39) S588I probably damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Top2a C T 11: 98,913,202 (GRCm39) V77I probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vrk1 A G 12: 106,018,024 (GRCm39) K98E possibly damaging Het
Zcchc2 C T 1: 105,958,322 (GRCm39) T931I possibly damaging Het
Zfc3h1 T A 10: 115,246,598 (GRCm39) L895H probably damaging Het
Zfp101 T C 17: 33,601,318 (GRCm39) E108G probably benign Het
Zfp609 A G 9: 65,610,137 (GRCm39) V942A probably benign Het
Other mutations in Tcea2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02118:Tcea2 APN 2 181,327,628 (GRCm39) missense probably benign 0.02
R0009:Tcea2 UTSW 2 181,327,610 (GRCm39) missense probably benign
R0513:Tcea2 UTSW 2 181,326,274 (GRCm39) missense probably benign 0.19
R0626:Tcea2 UTSW 2 181,329,431 (GRCm39) missense probably damaging 1.00
R1228:Tcea2 UTSW 2 181,326,238 (GRCm39) missense probably benign 0.11
R1540:Tcea2 UTSW 2 181,328,751 (GRCm39) missense possibly damaging 0.55
R2095:Tcea2 UTSW 2 181,328,725 (GRCm39) missense probably damaging 1.00
R4735:Tcea2 UTSW 2 181,328,514 (GRCm39) missense probably damaging 1.00
R7039:Tcea2 UTSW 2 181,328,711 (GRCm39) nonsense probably null
R7411:Tcea2 UTSW 2 181,328,457 (GRCm39) missense probably damaging 1.00
R9398:Tcea2 UTSW 2 181,322,243 (GRCm39) missense probably damaging 1.00
R9432:Tcea2 UTSW 2 181,322,227 (GRCm39) missense probably damaging 0.99
R9647:Tcea2 UTSW 2 181,322,984 (GRCm39) missense probably benign 0.01
R9774:Tcea2 UTSW 2 181,328,664 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTTCCAGCGGGCAATCAG -3'
(R):5'- AGGGTAGCTTTCGGTCAAC -3'

Sequencing Primer
(F):5'- GCAGTCGTCTGGGAGTTG -3'
(R):5'- TCAACGCGGCGTCCATTG -3'
Posted On 2016-10-05