Mutagenetix > Incidental Mutation

Incidental Mutation 'ANU74:Eloc'

262667

Institutional Source

Beutler Lab

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 #

ANU74

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16711949-16727266 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16713574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 115 (F115L)

Ref Sequence

ENSEMBL: ENSMUSP00000139480 (fasta)

Gene Model

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

AlphaFold

P83940

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115352
AA Change: F93L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111009
Gene: ENSMUSG00000079658
AA Change: F93L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185393
AA Change: F93L

PolyPhen 2 Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140161
Gene: ENSMUSG00000079658
AA Change: F93L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185771
AA Change: F93L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139675
Gene: ENSMUSG00000079658
AA Change: F93L

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

SMART Domains

Protein: ENSMUSP00000139741
Gene: ENSMUSG00000079658

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186948
AA Change: F93L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140962
Gene: ENSMUSG00000079658
AA Change: F93L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187910
AA Change: F115L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139480
Gene: ENSMUSG00000079658
AA Change: F115L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188641
AA Change: F93L

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140422
Gene: ENSMUSG00000079658
AA Change: F93L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190986

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	G	A	5: 50,118,380 (GRCm39)	S1056L	probably benign	Het
Ankrd26	A	T	6: 118,529,736 (GRCm39)	D236E	probably benign	Het
Capn15	C	T	17: 26,184,460 (GRCm39)	W7*	probably null	Het
Celsr2	G	A	3: 108,319,815 (GRCm39)	T999M	probably damaging	Het
Chrd	T	A	16: 20,560,069 (GRCm39)	M912K	possibly damaging	Het
Col9a1	A	G	1: 24,224,409 (GRCm39)	D197G	unknown	Het
Csf1r	A	G	18: 61,250,463 (GRCm39)	E431G	probably benign	Het
Fap	T	C	2: 62,378,113 (GRCm39)	D193G	probably damaging	Het
Fscn2	T	C	11: 120,253,162 (GRCm39)	Y210H	probably damaging	Het
Fut9	G	C	4: 25,620,802 (GRCm39)	T4R	probably benign	Het
Grb2	A	T	11: 115,536,733 (GRCm39)	D131E	probably benign	Het
Hecw2	T	C	1: 53,964,853 (GRCm39)	T658A	probably benign	Het
Helz2	T	C	2: 180,876,627 (GRCm39)	E1289G	probably benign	Het
Hyou1	A	G	9: 44,292,560 (GRCm39)	N92D	possibly damaging	Het
Irf8	A	C	8: 121,466,608 (GRCm39)	I18L	possibly damaging	Het
Kif12	GGGGC	GGGGCCTCCACCCGGCGGGC	4: 63,089,660 (GRCm39)		probably benign	Het
Kif12	GC	"GCCTCCACCCGGCGGTC,GCC"	4: 63,089,663 (GRCm39)		probably null	Het
Lamc2	A	C	1: 153,007,581 (GRCm39)	D864E	probably benign	Het
Map3k4	A	G	17: 12,451,863 (GRCm39)	V1475A	probably damaging	Het
Mapk8ip3	A	C	17: 25,119,551 (GRCm39)	M1030R	possibly damaging	Het
Mat1a	A	G	14: 40,833,099 (GRCm39)	D94G	probably benign	Het
Myh15	T	A	16: 48,993,295 (GRCm39)	D1643E	possibly damaging	Het
Myo15b	T	C	11: 115,769,239 (GRCm39)	F55L	probably damaging	Het
Nhlh2	A	T	3: 101,919,970 (GRCm39)	M1L	probably benign	Het
Nup214	T	C	2: 31,924,978 (GRCm39)	S1836P	probably damaging	Het
Olr1	G	A	6: 129,477,032 (GRCm39)	R78C	possibly damaging	Het
Or5m9	T	A	2: 85,877,655 (GRCm39)	Y276*	probably null	Het
Pam16	C	A	16: 4,434,497 (GRCm39)	V98F	probably damaging	Het
Pelp1	C	T	11: 70,285,913 (GRCm39)	V652I	probably damaging	Het
Pole	A	G	5: 110,437,236 (GRCm39)	H67R	probably benign	Het
Rbms1	G	T	2: 60,628,060 (GRCm39)	A60E	probably damaging	Het
Recql4	A	T	15: 76,589,957 (GRCm39)	M789K	possibly damaging	Het
Rrn3	T	C	16: 13,629,397 (GRCm39)	F571S	possibly damaging	Het
Ryr3	T	C	2: 112,661,575 (GRCm39)		probably null	Het
Sec61b	C	A	4: 47,474,922 (GRCm39)	N26K	possibly damaging	Het
Serinc1	T	C	10: 57,395,938 (GRCm39)	E284G	probably benign	Het
Slc30a9	G	A	5: 67,507,195 (GRCm39)	D496N	probably damaging	Het
Slc44a4	G	A	17: 35,140,554 (GRCm39)	R249H	probably damaging	Het
Slc6a13	A	C	6: 121,311,835 (GRCm39)	D404A	probably benign	Het
Spata18	A	G	5: 73,828,456 (GRCm39)	E225G	probably damaging	Het
Sspo	G	A	6: 48,437,893 (GRCm39)	G1351S	probably damaging	Het
Tgm3	T	C	2: 129,890,310 (GRCm39)	V691A	probably damaging	Het
Tns3	C	T	11: 8,442,149 (GRCm39)	R738Q	probably benign	Het
Tyk2	A	T	9: 21,027,454 (GRCm39)	I506N	probably damaging	Het
Ube2v1	G	A	2: 167,452,264 (GRCm39)	T113I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn2r14	A	T	5: 109,366,910 (GRCm39)	S437T	probably benign	Het
Vmn2r78	G	C	7: 86,570,273 (GRCm39)	V264L	possibly damaging	Het
Zfp956	T	G	6: 47,940,507 (GRCm39)	Y289D	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
IGL01774:Eloc	APN	1	16,716,013 (GRCm39)	missense	probably benign	0.06
R5393:Eloc	UTSW	1	16,718,192 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTCGGCAATTAGCTTTACAGCTC -3'
(R):5'- TGCCTCACAAAGTGCCATCCTG -3'

Sequencing Primer
(F):5'- GCTTTACAGCTCAATTTCATACAGG -3'
(R):5'- tcttttcacatcctcttctctcc -3'

Posted On

2015-02-04