Mutagenetix > Incidental Mutation

Incidental Mutation 'R6334:Eloa'

510693

Institutional Source

Beutler Lab

Gene Symbol

Eloa

Ensembl Gene

ENSMUSG00000028668

Gene Name

elongin A

Synonyms

Tceb3

MMRRC Submission

044488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135730681-135748960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135737133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 488 (P488S)

Ref Sequence

ENSEMBL: ENSMUSP00000030427 (fasta)

Gene Model

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

AlphaFold

Q8CB77

Predicted Effect

probably damaging
Transcript: ENSMUST00000030427
AA Change: P488S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: P488S

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

0.2002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,770,940 (GRCm39)	S141T	probably benign	Het
Afap1l2	A	G	19: 56,906,408 (GRCm39)		probably null	Het
Aox1	C	T	1: 58,346,566 (GRCm39)	Q567*	probably null	Het
Aqp4	T	A	18: 15,526,648 (GRCm39)	M278L	probably benign	Het
Atp23	A	C	10: 126,723,538 (GRCm39)	L188R	probably benign	Het
Catsperg1	C	T	7: 28,905,782 (GRCm39)	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824 (GRCm39)	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cfap46	T	C	7: 139,260,747 (GRCm39)	E117G	probably damaging	Het
Cfhr4	A	G	1: 139,701,662 (GRCm39)		probably null	Het
Chek1	A	G	9: 36,625,788 (GRCm39)	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,321,747 (GRCm39)	V35I	probably benign	Het
Cntn4	C	A	6: 106,483,153 (GRCm39)	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,645,753 (GRCm39)	G84V	probably benign	Het
Dnah12	A	T	14: 26,427,989 (GRCm39)	H205L	possibly damaging	Het
Dock1	G	A	7: 134,453,305 (GRCm39)	V845I	probably benign	Het
Drg1	T	C	11: 3,216,292 (GRCm39)	K7E	possibly damaging	Het
Evi5	G	A	5: 107,968,387 (GRCm39)	R187*	probably null	Het
Fam53a	T	A	5: 33,758,219 (GRCm39)	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,235,534 (GRCm39)	K63E	probably damaging	Het
Gast	C	A	11: 100,227,438 (GRCm39)	Q44K	probably benign	Het
Gng10	T	A	4: 59,035,257 (GRCm39)	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,460,474 (GRCm39)	T375I	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hspa14	A	T	2: 3,490,109 (GRCm39)		probably null	Het
Kcna3	T	C	3: 106,943,740 (GRCm39)	M1T	probably null	Het
Kcnj15	T	G	16: 95,097,095 (GRCm39)	L239R	probably damaging	Het
Klhl2	G	T	8: 65,212,842 (GRCm39)	D232E	probably benign	Het
Lamb3	A	T	1: 193,017,782 (GRCm39)	I888F	probably damaging	Het
Lars1	C	A	18: 42,350,551 (GRCm39)	M919I	probably benign	Het
Lfng	T	C	5: 140,598,522 (GRCm39)	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,679,045 (GRCm39)	A16T	probably benign	Het
Mamdc2	A	T	19: 23,341,270 (GRCm39)	I235N	probably damaging	Het
Map9	T	A	3: 82,290,612 (GRCm39)	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,322,604 (GRCm39)	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,807,810 (GRCm39)	K823R	probably null	Het
Nbea	G	T	3: 55,944,570 (GRCm39)	T598K	probably damaging	Het
Nrcam	C	A	12: 44,619,083 (GRCm39)	H877N	probably benign	Het
Nrxn2	T	C	19: 6,581,322 (GRCm39)		probably null	Het
Nwd2	A	T	5: 63,957,596 (GRCm39)	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,164,736 (GRCm39)		probably null	Het
Pkp2	C	T	16: 16,043,933 (GRCm39)	T229I	probably damaging	Het
Plagl2	G	A	2: 153,074,611 (GRCm39)	P97S	probably benign	Het
Plekhh2	C	A	17: 84,874,294 (GRCm39)	N526K	probably benign	Het
Plin4	A	G	17: 56,410,261 (GRCm39)	L1217P	probably benign	Het
Polr3e	T	C	7: 120,527,222 (GRCm39)	S67P	possibly damaging	Het
Postn	A	G	3: 54,292,703 (GRCm39)	K757E	probably benign	Het
Prpf39	T	A	12: 65,089,587 (GRCm39)		probably null	Het
Ptprg	C	T	14: 12,166,832 (GRCm38)	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,707,307 (GRCm39)	A292P	probably damaging	Het
Rpl35	G	T	2: 38,891,754 (GRCm39)	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,149,519 (GRCm39)	V782I	possibly damaging	Het
Syn2	T	A	6: 115,240,875 (GRCm39)	M415K	possibly damaging	Het
Tmem117	A	C	15: 94,909,324 (GRCm39)	I246L	probably benign	Het
Tmem221	A	T	8: 72,011,428 (GRCm39)	V9E	probably damaging	Het
Trav13-5	A	G	14: 54,033,399 (GRCm39)	T103A	probably damaging	Het
Ubxn7	T	A	16: 32,191,007 (GRCm39)		probably null	Het
Vmn2r101	G	T	17: 19,810,112 (GRCm39)	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,344 (GRCm39)	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,761,440 (GRCm39)	N639S	probably benign	Het
Wdr26	T	C	1: 181,030,771 (GRCm39)			Het
Zfp109	T	A	7: 23,928,308 (GRCm39)	Y367F	probably damaging	Het
Zfp143	G	A	7: 109,685,338 (GRCm39)	C389Y	probably damaging	Het
Zfp553	G	T	7: 126,836,064 (GRCm39)		probably null	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
R5437:Eloa	UTSW	4	135,740,196 (GRCm39)	missense	probably damaging	1.00
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'- AAAGGTCTACACTACATGGTGAAG -3'
(R):5'- CTCACTGAGAGGGTATGAGAGC -3'

Sequencing Primer
(F):5'- TGAGTTTAAAGCCAGCCTCG -3'
(R):5'- GGGTATGAGAGCCTACATTTACTTC -3'

Posted On

2018-04-02