Incidental Mutation 'R9386:Eloa'
ID 710319
Institutional Source Beutler Lab
Gene Symbol Eloa
Ensembl Gene ENSMUSG00000028668
Gene Name elongin A
Synonyms Tceb3
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9386 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 135730681-135748960 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135737847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 371 (V371A)
Ref Sequence ENSEMBL: ENSMUSP00000030427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030427]
AlphaFold Q8CB77
Predicted Effect probably benign
Transcript: ENSMUST00000030427
AA Change: V371A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: V371A

DomainStartEndE-ValueType
TFS2N 7 78 2.73e-26 SMART
low complexity region 162 174 N/A INTRINSIC
low complexity region 179 185 N/A INTRINSIC
low complexity region 262 277 N/A INTRINSIC
low complexity region 414 425 N/A INTRINSIC
low complexity region 479 490 N/A INTRINSIC
Pfam:Elongin_A 565 663 7.2e-31 PFAM
low complexity region 704 719 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T A 10: 10,274,708 (GRCm39) M750L probably benign Het
Ahnak2 T A 12: 112,745,428 (GRCm39) H673L Het
Alg1 T C 16: 5,059,201 (GRCm39) L338P probably damaging Het
Anapc1 A C 2: 128,459,642 (GRCm39) S1806A probably benign Het
Anks1 C T 17: 28,272,880 (GRCm39) T925I probably benign Het
Aoc1l1 A G 6: 48,952,324 (GRCm39) N83S probably benign Het
Apob G A 12: 8,056,629 (GRCm39) A1704T probably damaging Het
Arnt G A 3: 95,395,687 (GRCm39) V422M possibly damaging Het
Cblb C A 16: 51,986,701 (GRCm39) S648* probably null Het
Cdk18 A G 1: 132,044,183 (GRCm39) probably null Het
Celsr1 T C 15: 85,863,231 (GRCm39) D1267G probably damaging Het
Chtf18 C T 17: 25,942,732 (GRCm39) R399H probably damaging Het
Cntnap1 T A 11: 101,076,052 (GRCm39) Y979N probably damaging Het
Col22a1 T C 15: 71,853,794 (GRCm39) D256G probably damaging Het
Dbn1 C T 13: 55,629,760 (GRCm39) R174Q probably damaging Het
Dnah10 G A 5: 124,871,507 (GRCm39) probably null Het
Dnah9 T A 11: 65,838,368 (GRCm39) D3143V probably damaging Het
Dnajc6 G A 4: 101,494,098 (GRCm39) probably null Het
Dsg1b A G 18: 20,525,071 (GRCm39) N169S possibly damaging Het
Epb41l4b A T 4: 57,076,553 (GRCm39) V327E probably damaging Het
Fbxo15 A T 18: 84,977,372 (GRCm39) T140S probably benign Het
Fryl A T 5: 73,349,152 (GRCm39) F3L unknown Het
Galnt16 T C 12: 80,644,880 (GRCm39) V501A probably damaging Het
Haus6 A G 4: 86,502,101 (GRCm39) I590T probably benign Het
Hcfc2 T A 10: 82,574,937 (GRCm39) F199I probably damaging Het
Hoxd13 A G 2: 74,499,327 (GRCm39) Y225C probably damaging Het
Hydin T C 8: 111,314,362 (GRCm39) L4282P probably benign Het
Ing2 T C 8: 48,127,561 (GRCm39) E52G probably benign Het
Itsn2 T C 12: 4,679,730 (GRCm39) S180P unknown Het
Kansl1l T C 1: 66,765,129 (GRCm39) E727G probably damaging Het
Klhl26 A G 8: 70,904,156 (GRCm39) F585L probably benign Het
Lce1a1 T G 3: 92,554,190 (GRCm39) S95R unknown Het
Lrp1b A T 2: 41,013,640 (GRCm39) V1955E Het
Megf6 G A 4: 154,340,534 (GRCm39) G583E probably damaging Het
Mex3a A G 3: 88,443,505 (GRCm39) I194V possibly damaging Het
Mmp10 A T 9: 7,503,388 (GRCm39) Y116F probably damaging Het
Muc2 A T 7: 141,279,389 (GRCm39) D155V probably damaging Het
Ncam2 T C 16: 81,252,252 (GRCm39) C232R probably damaging Het
Nopchap1 T C 10: 83,196,129 (GRCm39) F3L probably benign Het
Or13n4 T C 7: 106,423,707 (GRCm39) I9V probably benign Het
Pdgfd C A 9: 6,293,903 (GRCm39) A159E possibly damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plekha8 C A 6: 54,605,846 (GRCm39) T307K probably damaging Het
Pnpla6 T C 8: 3,571,417 (GRCm39) probably null Het
Prkdc T G 16: 15,496,136 (GRCm39) S776A probably damaging Het
Prrc2b T C 2: 32,104,125 (GRCm39) I1201T probably benign Het
Pxmp4 C A 2: 154,430,004 (GRCm39) M128I probably benign Het
Siglech T C 7: 55,422,312 (GRCm39) S306P probably benign Het
Strc C T 2: 121,198,211 (GRCm39) E1449K probably damaging Het
Tchh A T 3: 93,354,346 (GRCm39) Q1262L unknown Het
Tln2 A T 9: 67,273,249 (GRCm39) D410E possibly damaging Het
Tmem175 A T 5: 108,787,339 (GRCm39) Q62L probably benign Het
Tpm3-rs7 A C 14: 113,552,597 (GRCm39) M164L probably benign Het
Trav8d-2 G A 14: 53,280,220 (GRCm39) R70H probably damaging Het
Tsc1 T C 2: 28,561,858 (GRCm39) S332P probably benign Het
Ttc41 T G 10: 86,548,890 (GRCm39) I28R probably damaging Het
Unc93a2 C T 17: 7,637,164 (GRCm39) W341* probably null Het
Vsig10 A C 5: 117,463,140 (GRCm39) Y122S probably damaging Het
Wnk2 A G 13: 49,220,822 (GRCm39) W1260R probably damaging Het
Other mutations in Eloa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Eloa APN 4 135,738,076 (GRCm39) missense probably benign 0.21
IGL00839:Eloa APN 4 135,738,670 (GRCm39) missense probably damaging 1.00
IGL01349:Eloa APN 4 135,741,758 (GRCm39) missense probably benign 0.00
IGL01475:Eloa APN 4 135,738,231 (GRCm39) missense probably benign 0.11
IGL02185:Eloa APN 4 135,740,290 (GRCm39) splice site probably benign
IGL03151:Eloa APN 4 135,737,732 (GRCm39) nonsense probably null
R1737:Eloa UTSW 4 135,738,081 (GRCm39) missense probably benign 0.43
R2995:Eloa UTSW 4 135,738,217 (GRCm39) missense probably benign 0.01
R4414:Eloa UTSW 4 135,738,576 (GRCm39) missense probably benign 0.14
R4414:Eloa UTSW 4 135,738,553 (GRCm39) missense possibly damaging 0.49
R4704:Eloa UTSW 4 135,738,525 (GRCm39) missense probably benign 0.00
R5357:Eloa UTSW 4 135,736,559 (GRCm39) missense probably benign 0.41
R5437:Eloa UTSW 4 135,740,196 (GRCm39) missense probably damaging 1.00
R6334:Eloa UTSW 4 135,737,133 (GRCm39) missense probably damaging 0.96
R6897:Eloa UTSW 4 135,740,220 (GRCm39) missense possibly damaging 0.80
R7124:Eloa UTSW 4 135,736,452 (GRCm39) missense probably damaging 1.00
R7586:Eloa UTSW 4 135,734,510 (GRCm39) missense probably damaging 0.99
R7689:Eloa UTSW 4 135,736,595 (GRCm39) missense probably benign 0.00
R8155:Eloa UTSW 4 135,734,438 (GRCm39) missense probably benign 0.07
R8389:Eloa UTSW 4 135,733,622 (GRCm39) missense probably benign
R8487:Eloa UTSW 4 135,736,668 (GRCm39) missense probably benign 0.26
R8548:Eloa UTSW 4 135,732,988 (GRCm39) missense probably damaging 1.00
R8866:Eloa UTSW 4 135,737,538 (GRCm39) critical splice donor site probably null
R9427:Eloa UTSW 4 135,748,935 (GRCm39) start codon destroyed probably null 0.98
Predicted Primers PCR Primer
(F):5'- GGGCAATTTCTGAGCTGAGTTC -3'
(R):5'- GATGTTGCTTCAGACAACCAC -3'

Sequencing Primer
(F):5'- AGCTGAGTTCAAGTTTTTACTAGTGC -3'
(R):5'- TGCTTCAGACAACCACTTTAAAAAG -3'
Posted On 2022-04-18