Incidental Mutation 'R3702:Tcea1'
ID 258551
Institutional Source Beutler Lab
Gene Symbol Tcea1
Ensembl Gene ENSMUSG00000033813
Gene Name transcription elongation factor A (SII) 1
Synonyms S-II
MMRRC Submission 040695-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3702 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 4928037-4968132 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4965158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 276 (V276A)
Ref Sequence ENSEMBL: ENSMUSP00000080266 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081551] [ENSMUST00000165720]
AlphaFold P10711
Predicted Effect probably benign
Transcript: ENSMUST00000081551
AA Change: V276A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
AA Change: V276A

DomainStartEndE-ValueType
TFS2N 5 79 2.56e-31 SMART
low complexity region 83 93 N/A INTRINSIC
low complexity region 100 115 N/A INTRINSIC
TFS2M 138 239 1.32e-44 SMART
ZnF_C2C2 261 300 3.6e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165720
AA Change: V287A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
AA Change: V287A

DomainStartEndE-ValueType
Pfam:Med26 38 88 1.1e-18 PFAM
low complexity region 94 104 N/A INTRINSIC
low complexity region 111 126 N/A INTRINSIC
TFS2M 149 250 1.32e-44 SMART
ZnF_C2C2 272 311 3.6e-21 SMART
Meta Mutation Damage Score 0.1457 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Homozygous null mice display impaired definitive erythropoiesis with loss of late stage erythroblasts, fetal liver hypoplasia, and embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 C T 11: 110,178,884 (GRCm39) probably null Het
Aopep A T 13: 63,163,144 (GRCm39) N55I probably benign Het
Cacna1a T G 8: 85,344,475 (GRCm39) S1846A probably damaging Het
Cacna1i A T 15: 80,265,272 (GRCm39) probably benign Het
Calhm3 T A 19: 47,140,187 (GRCm39) D302V possibly damaging Het
Cluh A G 11: 74,556,182 (GRCm39) M878V probably benign Het
Col24a1 C T 3: 145,043,621 (GRCm39) H603Y probably benign Het
Commd1 T A 11: 22,924,057 (GRCm39) L277H probably damaging Het
Cpped1 G T 16: 11,646,304 (GRCm39) D135E probably damaging Het
Cul5 T C 9: 53,540,516 (GRCm39) K499E probably damaging Het
Elfn1 A G 5: 139,958,114 (GRCm39) T373A probably benign Het
Fam83h C T 15: 75,874,499 (GRCm39) R946K probably benign Het
Fcgbpl1 G A 7: 27,857,203 (GRCm39) V2184M probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Grik4 T C 9: 42,586,514 (GRCm39) K114E probably damaging Het
Hivep1 T C 13: 42,311,203 (GRCm39) S1148P probably benign Het
Itgb1bp2 T C X: 100,495,293 (GRCm39) probably benign Het
Lrp1 C A 10: 127,430,972 (GRCm39) R359L probably damaging Het
Lyn A G 4: 3,742,455 (GRCm39) H28R probably benign Het
Mtmr10 T C 7: 63,987,647 (GRCm39) L729P probably damaging Het
Myot T A 18: 44,487,162 (GRCm39) probably null Het
Obox2 G T 7: 15,130,882 (GRCm39) R38L probably benign Het
Or6c5c A T 10: 129,298,821 (GRCm39) Y92F probably damaging Het
Pcdha3 A G 18: 37,080,401 (GRCm39) Q381R probably benign Het
Pip4k2b A G 11: 97,620,374 (GRCm39) probably benign Het
Ppig T A 2: 69,563,553 (GRCm39) S89T probably damaging Het
Prune2 A G 19: 17,156,235 (GRCm39) D47G probably damaging Het
Sh2b2 A G 5: 136,253,087 (GRCm39) S362P probably damaging Het
Snap91 G A 9: 86,688,573 (GRCm39) T322I probably damaging Het
Taf3 G A 2: 9,957,372 (GRCm39) T112I possibly damaging Het
Tex15 T C 8: 34,064,194 (GRCm39) V1208A probably benign Het
Tomm40 G T 7: 19,447,598 (GRCm39) T144K possibly damaging Het
Zbed5 G A 5: 129,932,000 (GRCm39) D650N possibly damaging Het
Zfp326 A G 5: 106,036,709 (GRCm39) probably null Het
Zfp647 G A 15: 76,795,110 (GRCm39) R517W probably damaging Het
Other mutations in Tcea1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Tcea1 APN 1 4,966,570 (GRCm39) splice site probably benign
IGL02361:Tcea1 APN 1 4,966,570 (GRCm39) splice site probably benign
IGL02367:Tcea1 APN 1 4,948,356 (GRCm39) critical splice donor site probably null
IGL02813:Tcea1 APN 1 4,956,979 (GRCm39) missense probably benign 0.06
R0403:Tcea1 UTSW 1 4,959,726 (GRCm39) missense probably benign
R0707:Tcea1 UTSW 1 4,950,569 (GRCm39) intron probably benign
R1157:Tcea1 UTSW 1 4,959,670 (GRCm39) splice site probably null
R4541:Tcea1 UTSW 1 4,963,659 (GRCm39) missense probably damaging 1.00
R4764:Tcea1 UTSW 1 4,965,167 (GRCm39) missense probably damaging 1.00
R5428:Tcea1 UTSW 1 4,950,568 (GRCm39) intron probably benign
R6005:Tcea1 UTSW 1 4,960,996 (GRCm39) missense probably benign 0.03
R6661:Tcea1 UTSW 1 4,928,652 (GRCm39) intron probably benign
R6792:Tcea1 UTSW 1 4,962,268 (GRCm39) missense probably benign 0.00
R7215:Tcea1 UTSW 1 4,937,706 (GRCm39) missense probably damaging 0.98
R7557:Tcea1 UTSW 1 4,965,213 (GRCm39) nonsense probably null
R7635:Tcea1 UTSW 1 4,959,774 (GRCm39) missense probably benign 0.01
R8033:Tcea1 UTSW 1 4,962,141 (GRCm39) missense probably damaging 0.98
R8955:Tcea1 UTSW 1 4,959,732 (GRCm39) missense probably benign 0.00
R9397:Tcea1 UTSW 1 4,962,141 (GRCm39) missense probably damaging 0.98
R9578:Tcea1 UTSW 1 4,961,021 (GRCm39) critical splice donor site probably null
Z1177:Tcea1 UTSW 1 4,928,200 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTGGATAAATTACACATGAAGGAC -3'
(R):5'- GCATAAACTTGCTTGTATGAGACG -3'

Sequencing Primer
(F):5'- TTACACATGAAGGACAACAGAATAAG -3'
(R):5'- TGTTTACTGAAAAGCTACAAACCC -3'
Posted On 2015-01-23