Mutagenetix > Incidental Mutation

Incidental Mutation 'R4414:Eloa'

328057

Institutional Source

Beutler Lab

Gene Symbol

Eloa

Ensembl Gene

ENSMUSG00000028668

Gene Name

elongin A

Synonyms

Tceb3

MMRRC Submission

041694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135730681-135748960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 135738576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 128 (H128L)

Ref Sequence

ENSEMBL: ENSMUSP00000030427 (fasta)

Gene Model

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

AlphaFold

Q8CB77

Predicted Effect

probably benign
Transcript: ENSMUST00000030427
AA Change: H128L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: H128L

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

0.1101

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (50/50)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	T	A	14: 44,406,690 (GRCm39)	M120L	probably benign	Het
Aco2	A	G	15: 81,773,584 (GRCm39)		probably null	Het
Acss1	A	G	2: 150,501,823 (GRCm39)	S115P	possibly damaging	Het
Ank2	A	T	3: 127,019,411 (GRCm39)		probably null	Het
AU041133	C	T	10: 81,987,316 (GRCm39)	T323M	probably damaging	Het
Bdp1	T	C	13: 100,167,369 (GRCm39)	D2215G	probably damaging	Het
Bod1l	G	A	5: 41,977,870 (GRCm39)	T1148I	probably benign	Het
Celsr1	C	T	15: 85,847,334 (GRCm39)	V1468I	probably benign	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cep89	A	G	7: 35,115,822 (GRCm39)		probably benign	Het
Cfap58	A	G	19: 47,941,480 (GRCm39)	K283E	possibly damaging	Het
Cog5	C	T	12: 31,710,853 (GRCm39)	Q78*	probably null	Het
Col20a1	C	T	2: 180,643,043 (GRCm39)	R796C	possibly damaging	Het
Dnah7b	A	T	1: 46,165,840 (GRCm39)	T502S	probably benign	Het
Dnm1l	A	G	16: 16,160,559 (GRCm39)		probably null	Het
Dse	A	T	10: 34,028,632 (GRCm39)	F819L	probably benign	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Golim4	T	G	3: 75,802,347 (GRCm39)	N287T	probably benign	Het
Gpx8	T	A	13: 113,179,682 (GRCm39)	K206N	possibly damaging	Het
Iqgap3	G	T	3: 88,004,293 (GRCm39)	V460F	probably benign	Het
Kcne4	A	T	1: 78,795,651 (GRCm39)	M100L	probably benign	Het
Kmt2a	A	T	9: 44,721,077 (GRCm39)		probably benign	Het
Ktn1	G	A	14: 47,962,387 (GRCm39)	W1117*	probably null	Het
Lad1	A	G	1: 135,756,484 (GRCm39)	D364G	probably benign	Het
Lmln	T	G	16: 32,930,220 (GRCm39)	I559S	probably benign	Het
Mapk4	A	T	18: 74,063,609 (GRCm39)	F538I	possibly damaging	Het
Mlxipl	A	G	5: 135,166,253 (GRCm39)		probably benign	Het
Mmrn1	T	C	6: 60,921,570 (GRCm39)	L9P	probably damaging	Het
Mnat1	G	A	12: 73,228,601 (GRCm39)	R155H	probably damaging	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Naaladl1	T	C	19: 6,165,581 (GRCm39)	L745P	probably damaging	Het
Obsl1	A	T	1: 75,467,546 (GRCm39)	D1409E	probably benign	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Pla2g4e	A	T	2: 120,013,194 (GRCm39)	H375Q	probably benign	Het
Prodh2	G	A	7: 30,205,877 (GRCm39)	V238M	probably damaging	Het
Rdh14	G	A	12: 10,441,231 (GRCm39)		probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rock1	A	T	18: 10,080,514 (GRCm39)	M1010K	probably damaging	Het
Ros1	A	G	10: 52,038,800 (GRCm39)		probably null	Het
Sim1	A	T	10: 50,857,708 (GRCm39)	D486V	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Src	A	G	2: 157,306,573 (GRCm39)	D192G	probably damaging	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Tmem145	A	G	7: 25,006,554 (GRCm39)	Y54C	probably damaging	Het
Try4	C	T	6: 41,281,905 (GRCm39)	P164S	possibly damaging	Het
Vegfc	A	T	8: 54,634,130 (GRCm39)	N270Y	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	135,738,553 (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'- ACTGTGGACTTTTCCTGGC -3'
(R):5'- ATGCTGAGGTCTACTTCTGC -3'

Sequencing Primer
(F):5'- ATGATGGGCTCCTGGTCCTC -3'
(R):5'- ATGCTGAGGTCTACTTCTGCTTCTG -3'

Posted On

2015-07-07