Incidental Mutation 'R0707:Tcea1'
ID 63146
Institutional Source Beutler Lab
Gene Symbol Tcea1
Ensembl Gene ENSMUSG00000033813
Gene Name transcription elongation factor A (SII) 1
Synonyms S-II
MMRRC Submission 038890-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0707 (G1)
Quality Score 93
Status Validated
Chromosome 1
Chromosomal Location 4928037-4968132 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 4950569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081551] [ENSMUST00000155020] [ENSMUST00000165720]
AlphaFold P10711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000078030
SMART Domains Protein: ENSMUSP00000132612
Gene: ENSMUSG00000062588

DomainStartEndE-ValueType
HMG 8 80 1.72e-25 SMART
HMG 92 162 3.57e-32 SMART
coiled coil region 173 200 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000081551
SMART Domains Protein: ENSMUSP00000080266
Gene: ENSMUSG00000033813

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: ENSMUST00000155020
SMART Domains Protein: ENSMUSP00000136108
Gene: ENSMUSG00000104217

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165720
SMART Domains Protein: ENSMUSP00000129157
Gene: ENSMUSG00000033813

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 A G 4: 106,617,329 (GRCm39) F259S probably damaging Het
Aldh16a1 T A 7: 44,793,931 (GRCm39) probably benign Het
Ankrd24 A T 10: 81,478,547 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,564,951 (GRCm39) S641P probably damaging Het
Arpp21 A C 9: 111,986,824 (GRCm39) S242R probably benign Het
Bpifb5 A G 2: 154,070,820 (GRCm39) T204A probably benign Het
Bud31 A G 5: 145,083,265 (GRCm39) Y77C probably damaging Het
Ccdc65 G A 15: 98,607,095 (GRCm39) V101I possibly damaging Het
Ccr7 T A 11: 99,036,809 (GRCm39) T38S probably damaging Het
Cdc14a T C 3: 116,087,362 (GRCm39) probably benign Het
Ces2f C T 8: 105,677,618 (GRCm39) H208Y possibly damaging Het
Chst1 C A 2: 92,443,964 (GRCm39) N145K possibly damaging Het
Clock A G 5: 76,374,976 (GRCm39) V731A possibly damaging Het
Cog6 C T 3: 52,921,283 (GRCm39) V108I possibly damaging Het
Cplane1 T A 15: 8,287,805 (GRCm39) N2881K unknown Het
Crtc2 T A 3: 90,170,804 (GRCm39) F626I probably damaging Het
Dicer1 A T 12: 104,673,144 (GRCm39) F792I probably damaging Het
Dnajc13 T C 9: 104,049,781 (GRCm39) K1780R probably benign Het
Dph5 A C 3: 115,708,782 (GRCm39) N155H probably benign Het
Dscam T C 16: 96,626,982 (GRCm39) probably null Het
Etl4 C A 2: 20,810,382 (GRCm39) probably benign Het
Flt3l T C 7: 44,785,450 (GRCm39) S9G probably benign Het
Fmnl2 A G 2: 52,944,498 (GRCm39) E159G possibly damaging Het
Fryl A G 5: 73,240,715 (GRCm39) I1295T probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gatad2b T A 3: 90,263,489 (GRCm39) S529T probably benign Het
Herc6 G A 6: 57,639,347 (GRCm39) G905E possibly damaging Het
Hhip T A 8: 80,724,884 (GRCm39) N296I probably damaging Het
Hmgcr A T 13: 96,787,151 (GRCm39) probably benign Het
Kalrn T G 16: 33,830,951 (GRCm39) N723H possibly damaging Het
Mroh5 T A 15: 73,662,588 (GRCm39) Y242F possibly damaging Het
Msh3 T A 13: 92,483,848 (GRCm39) K258* probably null Het
Myo1a T C 10: 127,555,732 (GRCm39) probably benign Het
Nlrp4f C T 13: 65,342,317 (GRCm39) E443K probably benign Het
Nupr2 A G 5: 129,937,533 (GRCm39) Y34C probably damaging Het
Ociad1 T C 5: 73,452,255 (GRCm39) probably benign Het
Or1af1 A T 2: 37,110,208 (GRCm39) K236* probably null Het
Or5af2 T A 11: 58,708,577 (GRCm39) L248M probably damaging Het
Or5b3 A T 19: 13,388,784 (GRCm39) M284L probably benign Het
Or5p5 A G 7: 107,414,331 (GRCm39) D182G probably damaging Het
Or6ae1 T C 7: 139,742,002 (GRCm39) N287S probably damaging Het
P2ry12 C A 3: 59,124,908 (GRCm39) V256F probably damaging Het
Pcdhb22 T A 18: 37,651,904 (GRCm39) I124N probably damaging Het
Pcnt A G 10: 76,256,375 (GRCm39) F622L probably damaging Het
Pfas A T 11: 68,888,863 (GRCm39) N361K probably benign Het
Plod2 T G 9: 92,487,480 (GRCm39) L600V possibly damaging Het
Pole T C 5: 110,446,854 (GRCm39) Y631H probably damaging Het
Proser1 T C 3: 53,386,197 (GRCm39) L693P probably damaging Het
Ptprd A G 4: 75,875,476 (GRCm39) Y1195H probably damaging Het
Rbm27 T A 18: 42,459,091 (GRCm39) probably null Het
Ric8a A G 7: 140,437,886 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rimkla C T 4: 119,335,177 (GRCm39) V69M probably damaging Het
Scfd1 A T 12: 51,459,360 (GRCm39) K307M probably damaging Het
Sh2b2 A G 5: 136,261,117 (GRCm39) F33S probably damaging Het
Smg7 T G 1: 152,746,508 (GRCm39) probably null Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Strn3 G A 12: 51,657,187 (GRCm39) T642I probably damaging Het
Syne2 T C 12: 76,028,837 (GRCm39) probably null Het
Syne3 A G 12: 104,935,619 (GRCm39) L53P probably damaging Het
Tmem30b T C 12: 73,592,942 (GRCm39) N58D probably benign Het
Tnpo1 A G 13: 98,991,954 (GRCm39) Y641H probably damaging Het
Trim25 A T 11: 88,890,564 (GRCm39) T84S probably benign Het
Trip4 A T 9: 65,746,286 (GRCm39) F537I possibly damaging Het
Uaca G A 9: 60,755,900 (GRCm39) probably benign Het
Ugt2b34 T A 5: 87,040,758 (GRCm39) Y388F possibly damaging Het
Vmn2r71 T C 7: 85,268,640 (GRCm39) V281A probably benign Het
Vps13d A T 4: 144,882,502 (GRCm39) D1030E probably damaging Het
Vps8 C A 16: 21,261,107 (GRCm39) F82L probably damaging Het
Zfp296 A G 7: 19,313,661 (GRCm39) D172G probably benign Het
Zfp977 C A 7: 42,229,958 (GRCm39) C189F 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
R1157:Tcea1 UTSW 1 4,959,670 (GRCm39) splice site probably null
R3702:Tcea1 UTSW 1 4,965,158 (GRCm39) missense probably benign 0.06
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'- TTTAACAGGACCCTTGGCACCATC -3'
(R):5'- CCCAGAGGTTCCCGTCAATTTTGC -3'

Sequencing Primer
(F):5'- TCCCTTTAGACTTATAGTCAGCAAC -3'
(R):5'- AGTTCTCCAAGAAGTGCTCG -3'
Posted On 2013-07-30