Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Eloa'

428412

Institutional Source

Beutler Lab

Gene Symbol

Eloa

Ensembl Gene

ENSMUSG00000028668

Gene Name

elongin A

Synonyms

Tceb3

MMRRC Submission

043002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135730681-135748960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135740196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 75 (L75Q)

Ref Sequence

ENSEMBL: ENSMUSP00000030427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030427]

AlphaFold

Q8CB77

Predicted Effect

probably damaging
Transcript: ENSMUST00000030427
AA Change: L75Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: L75Q

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142289

Meta Mutation Damage Score

0.8641

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Acaca	G	A	11: 84,237,646 (GRCm39)		probably null	Het
Acsm3	C	A	7: 119,377,720 (GRCm39)		probably benign	Het
Aoc1	C	A	6: 48,884,684 (GRCm39)	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,053,668 (GRCm39)	N378I	probably damaging	Het
Cacna1i	A	T	15: 80,255,730 (GRCm39)	H871L	probably damaging	Het
Clic4	C	G	4: 134,944,557 (GRCm39)	R206P	probably damaging	Het
Commd9	G	A	2: 101,731,373 (GRCm39)	G186D	probably damaging	Het
Cpne9	C	T	6: 113,281,591 (GRCm39)		probably benign	Het
Crhr2	C	T	6: 55,077,718 (GRCm39)	V196I	probably damaging	Het
Dctn5	T	A	7: 121,732,552 (GRCm39)		probably benign	Het
Dhtkd1	C	T	2: 5,928,930 (GRCm39)	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,579,993 (GRCm39)	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,868,499 (GRCm39)	Y487*	probably null	Het
Eef1akmt3	A	T	10: 126,869,116 (GRCm39)	N119K	probably damaging	Het
Fat3	G	A	9: 15,996,604 (GRCm39)	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,913,982 (GRCm39)	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,311,849 (GRCm39)	D174A	probably damaging	Het
Gcnt2	T	A	13: 41,014,652 (GRCm39)	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,266,540 (GRCm39)	C969S	probably damaging	Het
Hook3	T	C	8: 26,551,450 (GRCm39)	E130G	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Itsn1	T	A	16: 91,615,479 (GRCm39)		probably benign	Het
Kif13b	C	T	14: 65,043,563 (GRCm39)	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,489,553 (GRCm39)	S135F	probably damaging	Het
Klf5	C	T	14: 99,538,895 (GRCm39)	R23*	probably null	Het
Lcn5	A	G	2: 25,548,023 (GRCm39)	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,659,818 (GRCm39)	I338V	probably benign	Het
Mthfd2l	A	G	5: 91,096,757 (GRCm39)	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,905,439 (GRCm39)	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,439,812 (GRCm39)	C318*	probably null	Het
Ndufs7	C	T	10: 80,090,758 (GRCm39)	R116C	possibly damaging	Het
Odr4	T	G	1: 150,239,269 (GRCm39)	I385L	probably benign	Het
Or1ad6	T	C	11: 50,859,935 (GRCm39)	M30T	probably benign	Het
Pnkd	T	C	1: 74,388,896 (GRCm39)	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,183,263 (GRCm39)	V82G	probably benign	Het
Prkdc	A	T	16: 15,587,739 (GRCm39)	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 56,927,321 (GRCm39)	H66L	possibly damaging	Het
Pygm	T	A	19: 6,440,412 (GRCm39)	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,549,717 (GRCm39)	E324D	probably damaging	Het
Rnf6	G	A	5: 146,147,090 (GRCm39)	R643C	probably damaging	Het
Ryr2	C	T	13: 11,670,599 (GRCm39)	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,506,690 (GRCm39)	Y1400H	probably damaging	Het
Septin10	T	A	10: 59,012,781 (GRCm39)	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,274,079 (GRCm39)	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,241,040 (GRCm39)	T449A	probably benign	Het
Tcam1	C	T	11: 106,176,249 (GRCm39)	T325M	probably damaging	Het
Tctn1	A	G	5: 122,396,942 (GRCm39)	I147T	probably benign	Het
Tet1	G	T	10: 62,650,230 (GRCm39)	H30Q	probably benign	Het
Tmem109	A	G	19: 10,849,378 (GRCm39)	I159T	probably damaging	Het
Tmem40	C	T	6: 115,735,992 (GRCm39)		probably benign	Het
Tnfrsf21	C	T	17: 43,348,753 (GRCm39)	P122S	possibly damaging	Het
Uaca	A	G	9: 60,778,733 (GRCm39)	D1038G	probably benign	Het
Ubr2	C	G	17: 47,274,623 (GRCm39)	E852D	probably benign	Het
Ubr3	A	T	2: 69,774,734 (GRCm39)	N518I	probably damaging	Het
Unc80	T	G	1: 66,693,737 (GRCm39)	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,256,652 (GRCm39)	P16S	probably benign	Het

Other mutations in Eloa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9386:Eloa	UTSW	4	135,737,847 (GRCm39)	missense	probably benign
R9427:Eloa	UTSW	4	135,748,935 (GRCm39)	start codon destroyed	probably null	0.98

Predicted Primers

PCR Primer
(F):5'- AGGACAACCTTTAGGGCCAG -3'
(R):5'- AGAGTAACTTAGTCTAAGGCGTAGG -3'

Sequencing Primer
(F):5'- TTCCCCCACAGGTTGCAAG -3'
(R):5'- CGTAGGCATTTTAGGAGGGATG -3'

Posted On

2016-09-01