Incidental Mutation 'R6792:Tcea1'
ID532620
Institutional Source Beutler Lab
Gene Symbol Tcea1
Ensembl Gene ENSMUSG00000033813
Gene Nametranscription elongation factor A (SII) 1
SynonymsS-II
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6792 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location4857814-4897909 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 4892045 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 229 (D229E)
Ref Sequence ENSEMBL: ENSMUSP00000129157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081551] [ENSMUST00000165720]
Predicted Effect probably benign
Transcript: ENSMUST00000081551
AA Change: D218E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813
AA Change: D218E

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: D229E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813
AA Change: D229E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 98% (51/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik T C 6: 96,165,115 E316G possibly damaging Het
4932438A13Rik A G 3: 37,011,566 probably null Het
A2ml1 G A 6: 128,546,329 Q1215* probably null Het
Akap2 A G 4: 57,855,880 D403G possibly damaging Het
Aldh2 C T 5: 121,580,649 G64R probably damaging Het
Atp11a G A 8: 12,861,939 probably benign Het
Bcl11b T C 12: 107,989,734 D52G probably damaging Het
Capg T A 6: 72,555,554 I34K possibly damaging Het
Card11 T A 5: 140,913,309 I37F probably damaging Het
Col27a1 G T 4: 63,317,503 R724L unknown Het
Cryl1 T C 14: 57,382,767 E47G probably damaging Het
Dgkb A T 12: 38,100,425 D70V possibly damaging Het
Dscam T C 16: 96,593,255 E1949G probably damaging Het
Dscam A G 16: 96,648,237 V1387A probably damaging Het
Exph5 G A 9: 53,375,317 V1233M possibly damaging Het
Fat3 A T 9: 16,375,644 V861E probably damaging Het
Fgfr4 T G 13: 55,156,898 D184E possibly damaging Het
Fkbp14 G T 6: 54,585,852 S49* probably null Het
Ginm1 T C 10: 7,773,983 D182G probably damaging Het
Gk2 T C 5: 97,455,729 I417V probably benign Het
Gm21677 A G Y: 3,298,867 Y206H possibly damaging Homo
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,499,476 probably benign Het
Malrd1 C T 2: 16,150,756 P1992L unknown Het
Mapk6 A T 9: 75,395,548 I221N probably damaging Het
Mup9 A G 4: 60,421,355 V65A possibly damaging Het
Myo15b A G 11: 115,885,097 D805G probably damaging Het
Olfr1082 A T 2: 86,593,939 D296E probably benign Het
Olfr69 A G 7: 103,768,139 I86T possibly damaging Het
Otof T A 5: 30,375,634 H1588L probably damaging Het
Pde4a A G 9: 21,192,590 K145R probably benign Het
Pik3ap1 A T 19: 41,321,626 D418E probably benign Het
Pilrb2 C A 5: 137,868,590 R217M possibly damaging Het
Plcb2 T C 2: 118,719,441 N232S probably damaging Het
Ppargc1b C A 18: 61,307,676 G724W probably damaging Het
Ppp2r5d A G 17: 46,704,856 S2P probably benign Het
Prr5l T G 2: 101,717,424 N252T probably benign Het
Rilp A T 11: 75,512,775 K348* probably null Het
Slc17a7 A G 7: 45,174,875 E505G possibly damaging Het
Slc6a21 T A 7: 45,279,885 M1K probably null Het
Sorcs1 T C 19: 50,678,168 T101A probably benign Het
Sorl1 A T 9: 42,099,263 V137E probably damaging Het
Stam2 T C 2: 52,707,981 I270V probably benign Het
Synj2 G A 17: 5,990,290 A214T probably benign Het
Tarsl2 G T 7: 65,662,303 C321F probably damaging Het
Tdrd9 C T 12: 112,027,113 R692W probably benign Het
Tkfc T C 19: 10,594,524 T383A probably benign Het
Traf1 T C 2: 34,956,275 D43G probably benign Het
Tubgcp6 C T 15: 89,122,877 probably benign Het
Vit A T 17: 78,579,399 Y152F probably damaging Het
Vmn1r66 A T 7: 10,274,485 M207K possibly damaging Het
Other mutations in Tcea1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Tcea1 APN 1 4896347 splice site probably benign
IGL02361:Tcea1 APN 1 4896347 splice site probably benign
IGL02367:Tcea1 APN 1 4878133 critical splice donor site probably null
IGL02813:Tcea1 APN 1 4886756 missense probably benign 0.06
R0403:Tcea1 UTSW 1 4889503 missense probably benign
R0707:Tcea1 UTSW 1 4880346 intron probably benign
R1157:Tcea1 UTSW 1 4889447 splice site probably null
R3702:Tcea1 UTSW 1 4894935 missense probably benign 0.06
R4541:Tcea1 UTSW 1 4893436 missense probably damaging 1.00
R4764:Tcea1 UTSW 1 4894944 missense probably damaging 1.00
R5428:Tcea1 UTSW 1 4880345 intron probably benign
R6005:Tcea1 UTSW 1 4890773 missense probably benign 0.03
R6661:Tcea1 UTSW 1 4858429 intron probably benign
R7215:Tcea1 UTSW 1 4867483 missense probably damaging 0.98
R7557:Tcea1 UTSW 1 4894990 nonsense probably null
R7635:Tcea1 UTSW 1 4889551 missense probably benign 0.01
R8033:Tcea1 UTSW 1 4891918 missense probably damaging 0.98
Z1177:Tcea1 UTSW 1 4857977 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GAGTAACACTATGACCAGTAACAGATG -3'
(R):5'- ACATCTGGACAGCTCAAGAC -3'

Sequencing Primer
(F):5'- GACAGGACAAACAAAGTTCTTATCTG -3'
(R):5'- TCTGGACAGCTCAAGACAAAAG -3'
Posted On2018-08-29