Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Eloa'

538378

Institutional Source

Beutler Lab

Gene Symbol

Eloa

Ensembl Gene

ENSMUSG00000028668

Gene Name

elongin A

Synonyms

Tceb3

MMRRC Submission

044991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

135730681-135748960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135740220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 67 (D67G)

Ref Sequence

ENSEMBL: ENSMUSP00000030427 (fasta)

Gene Model

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

AlphaFold

Q8CB77

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030427
AA Change: D67G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: D67G

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

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Bmper	T	A	9: 23,285,225 (GRCm39)	V258E	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Elovl4	T	C	9: 83,665,278 (GRCm39)	I103V	probably benign	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Ino80d	A	T	1: 63,104,993 (GRCm39)	I361N	probably damaging	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Palb2	A	G	7: 121,726,270 (GRCm39)		probably null	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ufd1	T	A	16: 18,645,850 (GRCm39)	I254N	probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	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
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
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'- ACAACCTTTAGGGCCAGAGC -3'
(R):5'- GCTACAGAGTAACTTAGTCTAAGGC -3'

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

Posted On

2018-11-06