Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01774:Eloc'

154048

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eloc

Ensembl Gene

ENSMUSG00000079658

Gene Name

elongin C

Synonyms

2610301I15Rik, Tceb1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

16711949-16727266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16716013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 37 (D37E)

Ref Sequence

ENSEMBL: ENSMUSP00000139480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115352] [ENSMUST00000185393] [ENSMUST00000185771] [ENSMUST00000186701] [ENSMUST00000186948] [ENSMUST00000187910] [ENSMUST00000188641]

AlphaFold

P83940

Predicted Effect

probably benign
Transcript: ENSMUST00000115352
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111009
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Skp1	16	112	2.41e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185393
AA Change: D15E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000140161
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Skp1	16	95	2.6e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185771
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139675
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Skp1	16	112	2.41e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186541

Predicted Effect

probably benign
Transcript: ENSMUST00000186701
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139741
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Pfam:Skp1_POZ	17	51	1.1e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186948
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140962
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Skp1	16	112	2.41e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187910
AA Change: D37E

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139480
Gene: ENSMUSG00000079658
AA Change: D37E

Domain	Start	End	E-Value	Type
low complexity region	2	27	N/A	INTRINSIC
Skp1	38	134	1.2e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188641
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000140422
Gene: ENSMUSG00000079658
AA Change: D15E

Domain	Start	End	E-Value	Type
Skp1	16	112	2.41e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188987

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin C, 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. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,077,058 (GRCm39)	D708G	probably damaging	Het
Abca16	T	C	7: 120,021,024 (GRCm39)		probably benign	Het
Abcc5	T	C	16: 20,197,207 (GRCm39)	D674G	probably damaging	Het
Abr	A	G	11: 76,355,125 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,619,363 (GRCm39)	I4T	possibly damaging	Het
Btla	A	G	16: 45,070,911 (GRCm39)	N290S	possibly damaging	Het
Catip	C	A	1: 74,407,642 (GRCm39)	R325S	probably damaging	Het
Cep120	A	G	18: 53,839,902 (GRCm39)	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,006,133 (GRCm39)	I221V	probably benign	Het
Fabp12	A	C	3: 10,312,754 (GRCm39)	N89K	probably benign	Het
Ficd	G	T	5: 113,877,073 (GRCm39)	R416L	probably damaging	Het
Frmd3	T	C	4: 74,106,075 (GRCm39)	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,540,047 (GRCm39)		probably benign	Het
Gatc	G	A	5: 115,479,076 (GRCm39)	Q45*	probably null	Het
Gm5414	T	C	15: 101,535,410 (GRCm39)	D225G	probably benign	Het
Itpkc	G	T	7: 26,911,795 (GRCm39)	A592E	probably benign	Het
Kl	G	T	5: 150,911,948 (GRCm39)	V566L	probably benign	Het
Lpin1	T	A	12: 16,608,477 (GRCm39)	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,692,880 (GRCm39)	Y483C	probably damaging	Het
Neb	C	T	2: 52,112,982 (GRCm39)	W67*	probably null	Het
Nrarp	T	C	2: 25,071,298 (GRCm39)	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or52n20	T	C	7: 104,320,149 (GRCm39)	I80T	probably benign	Het
Pacs2	T	A	12: 113,020,462 (GRCm39)	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,276 (GRCm39)	K420R	probably benign	Het
Rag2	A	G	2: 101,460,392 (GRCm39)	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,440,554 (GRCm39)	Q88*	probably null	Het
Rictor	T	C	15: 6,799,258 (GRCm39)	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,871,339 (GRCm39)	Q276*	probably null	Het
Tas2r134	C	T	2: 51,518,160 (GRCm39)	T213I	probably benign	Het
Tecpr1	A	G	5: 144,148,358 (GRCm39)	I349T	probably damaging	Het
Tnxb	T	C	17: 34,907,813 (GRCm39)	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,513,113 (GRCm39)	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,889 (GRCm39)	I229L	probably benign	Het
Vnn1	T	C	10: 23,776,608 (GRCm39)	Y320H	probably benign	Het
Zfp990	T	C	4: 145,263,518 (GRCm39)	V172A	probably benign	Het

Other mutations in Eloc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01620:Eloc	APN	1	16,713,502 (GRCm39)	utr 3 prime	probably benign
ANU74:Eloc	UTSW	1	16,713,574 (GRCm39)	missense	possibly damaging	0.82
R5393:Eloc	UTSW	1	16,718,192 (GRCm39)	utr 5 prime	probably benign

Posted On

2014-02-04