Mutagenetix > Incidental Mutation

Incidental Mutation 'R1737:Eloa'

199767

Institutional Source

Beutler Lab

Gene Symbol

Eloa

Ensembl Gene

ENSMUSG00000028668

Gene Name

elongin A

Synonyms

Tceb3

MMRRC Submission

039769-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1737 (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 135738081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 293 (V293D)

Ref Sequence

ENSEMBL: ENSMUSP00000030427 (fasta)

Gene Model

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

AlphaFold

Q8CB77

Predicted Effect

probably benign
Transcript: ENSMUST00000030427
AA Change: V293D

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: V293D

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

0.0898

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.1%
20x: 91.4%

Validation Efficiency

100% (75/75)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Ak7	G	A	12: 105,708,591 (GRCm39)	V349M	probably damaging	Het
Aldh1a2	A	T	9: 71,192,453 (GRCm39)	E436V	possibly damaging	Het
Apc	C	A	18: 34,450,075 (GRCm39)	P2290T	probably damaging	Het
Atp10a	T	C	7: 58,476,986 (GRCm39)		probably benign	Het
Bahd1	T	C	2: 118,746,404 (GRCm39)	S8P	probably damaging	Het
BC049715	C	T	6: 136,817,306 (GRCm39)	P182L	probably damaging	Het
Capn10	T	C	1: 92,862,677 (GRCm39)	Y28H	probably benign	Het
Cdh10	A	T	15: 18,964,149 (GRCm39)	I104F	probably damaging	Het
Cep170b	A	G	12: 112,703,061 (GRCm39)	D508G	possibly damaging	Het
Ces2a	G	T	8: 105,467,456 (GRCm39)	A494S	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cltc	G	A	11: 86,624,553 (GRCm39)	T123M	probably damaging	Het
Cnot1	A	G	8: 96,474,904 (GRCm39)	S1102P	probably damaging	Het
Col12a1	C	A	9: 79,610,733 (GRCm39)	D224Y	probably damaging	Het
Col14a1	T	A	15: 55,208,357 (GRCm39)		probably benign	Het
Cyp7a1	T	A	4: 6,272,848 (GRCm39)	T122S	probably benign	Het
Dock4	A	G	12: 40,857,000 (GRCm39)		probably null	Het
Eid2	T	C	7: 27,967,924 (GRCm39)	V182A	possibly damaging	Het
Enkur	G	A	2: 21,199,106 (GRCm39)	P143S	probably damaging	Het
Ep300	T	C	15: 81,510,548 (GRCm39)	Y99H	probably damaging	Het
Fbxw5	C	A	2: 25,393,596 (GRCm39)	L66I	probably benign	Het
Flg2	A	T	3: 93,110,928 (GRCm39)	R985S	unknown	Het
Fscb	A	T	12: 64,521,355 (GRCm39)	I37K	possibly damaging	Het
H2-M10.3	T	C	17: 36,679,296 (GRCm39)	N3S	probably benign	Het
H2-Q7	A	C	17: 35,658,602 (GRCm39)	Y80S	probably damaging	Het
H60c	A	T	10: 3,209,914 (GRCm39)	D124E	possibly damaging	Het
Hsd3b2	A	T	3: 98,618,862 (GRCm39)	V361E	probably damaging	Het
Ice1	A	C	13: 70,754,444 (GRCm39)	C547W	probably damaging	Het
Itprid1	A	T	6: 55,945,289 (GRCm39)	D670V	probably damaging	Het
Jmy	A	G	13: 93,635,303 (GRCm39)	V171A	probably damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Klk1b1	A	T	7: 43,619,783 (GRCm39)	Q114L	probably benign	Het
Krt10	A	G	11: 99,278,213 (GRCm39)	M280T	possibly damaging	Het
Lama1	G	A	17: 68,109,916 (GRCm39)	R2179Q	probably benign	Het
Mbd3l1	C	T	9: 18,396,225 (GRCm39)	P117S	possibly damaging	Het
Med18	A	T	4: 132,187,420 (GRCm39)	S71R	probably damaging	Het
Mov10l1	T	A	15: 88,895,607 (GRCm39)	I643N	possibly damaging	Het
Nfib	T	C	4: 82,416,826 (GRCm39)	K70E	probably damaging	Het
Nr3c2	A	C	8: 77,634,958 (GRCm39)	S20R	probably benign	Het
Nr6a1	A	T	2: 38,628,955 (GRCm39)	F356L	probably benign	Het
Oca2	G	A	7: 55,978,533 (GRCm39)	R567H	probably damaging	Het
Or10k2	A	G	8: 84,268,045 (GRCm39)	S91G	probably benign	Het
Or1e35	T	A	11: 73,797,911 (GRCm39)	M136L	possibly damaging	Het
Or1p1	T	C	11: 74,179,637 (GRCm39)	L55P	probably damaging	Het
Or6c88	T	A	10: 129,406,697 (GRCm39)	Y58N	probably damaging	Het
Or8g33	T	C	9: 39,338,254 (GRCm39)	T38A	probably damaging	Het
Pcdhb10	A	G	18: 37,546,009 (GRCm39)	T362A	probably benign	Het
Pip5k1b	A	T	19: 24,374,404 (GRCm39)	V59E	probably damaging	Het
Pkhd1l1	G	A	15: 44,410,905 (GRCm39)		probably null	Het
Prr36	T	C	8: 4,264,370 (GRCm39)		probably benign	Het
Ptger2	A	G	14: 45,239,228 (GRCm39)	T289A	probably benign	Het
Rad18	A	G	6: 112,658,498 (GRCm39)	F136L	probably damaging	Het
Rhbg	T	A	3: 88,153,181 (GRCm39)	S258C	probably damaging	Het
Scgb2b27	T	C	7: 33,712,739 (GRCm39)	I34M	possibly damaging	Het
Senp7	C	A	16: 55,944,162 (GRCm39)	T135K	probably damaging	Het
Slc20a2	A	G	8: 23,035,582 (GRCm39)	I193M	probably damaging	Het
Slc27a1	G	A	8: 72,023,504 (GRCm39)	V47I	probably benign	Het
Slc9a5	G	A	8: 106,094,766 (GRCm39)	V786M	probably damaging	Het
Smyd1	A	G	6: 71,193,875 (GRCm39)	L350P	probably damaging	Het
Ston2	A	T	12: 91,614,681 (GRCm39)	F576I	probably damaging	Het
Sulf2	A	T	2: 165,924,598 (GRCm39)	V496E	probably benign	Het
Tcl1b3	C	A	12: 105,157,481 (GRCm39)	S41Y	probably damaging	Het
Tulp2	A	T	7: 45,169,201 (GRCm39)	N256I	probably damaging	Het
Uspl1	T	A	5: 149,138,668 (GRCm39)	C349S	probably damaging	Het
Vcl	T	C	14: 21,070,604 (GRCm39)	I730T	probably damaging	Het
Vmn1r61	A	T	7: 5,614,060 (GRCm39)	F85I	probably benign	Het
Zfp318	A	G	17: 46,710,403 (GRCm39)	T709A	probably benign	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	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
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
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'- CGCTCAAACTCATCGTCCACATCTG -3'
(R):5'- AAAAGGGGCTGTTAGCCACCAC -3'

Sequencing Primer
(F):5'- TCCTGAGCCTTCAGGTGG -3'
(R):5'- TGTTAGCCACCACAAGCAG -3'

Posted On

2014-05-23