Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00233:Elob'

306861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Elob

Ensembl Gene

ENSMUSG00000055839

Gene Name

elongin B

Synonyms

Tceb2, 18 kDa, elongin B, 0610040H15Rik

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00233

Quality Score

Status

Chromosome

Chromosomal Location

24043714-24048083 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

C to A at 24043954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000066210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069579] [ENSMUST00000088621] [ENSMUST00000190686]

AlphaFold

P62869

PDB Structure

Crystal structure of a B30.2/SPRY domain-containing protein GUSTAVUS in complex with Elongin B and Elongin C [X-RAY DIFFRACTION]
Structure of the SOCS2-Elongin BC complex bound to an N-terminal fragment of Cullin5 [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000069579

SMART Domains

Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839

Domain	Start	End	E-Value	Type
UBQ	3	80	5.1e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088621

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218

Domain	Start	End	E-Value	Type
low complexity region	82	157	N/A	INTRINSIC
low complexity region	161	188	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
internal_repeat_4	248	305	2.93e-5	PROSPERO
internal_repeat_5	259	388	2.93e-5	PROSPERO
low complexity region	407	423	N/A	INTRINSIC
CTD	464	584	5.25e-14	SMART
low complexity region	652	682	N/A	INTRINSIC
low complexity region	689	721	N/A	INTRINSIC
internal_repeat_6	732	778	4.88e-5	PROSPERO
low complexity region	779	795	N/A	INTRINSIC
low complexity region	802	824	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC
internal_repeat_2	859	1124	6.34e-6	PROSPERO
internal_repeat_1	1055	1183	3.81e-6	PROSPERO
internal_repeat_4	1113	1166	2.93e-5	PROSPERO
internal_repeat_6	1169	1213	4.88e-5	PROSPERO
low complexity region	1236	1244	N/A	INTRINSIC
low complexity region	1275	1286	N/A	INTRINSIC
low complexity region	1290	1312	N/A	INTRINSIC
internal_repeat_2	1313	1485	6.34e-6	PROSPERO
low complexity region	1493	1525	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC
low complexity region	1559	1720	N/A	INTRINSIC
low complexity region	1734	1919	N/A	INTRINSIC
low complexity region	1926	1951	N/A	INTRINSIC
low complexity region	1966	1980	N/A	INTRINSIC
low complexity region	2079	2105	N/A	INTRINSIC
internal_repeat_3	2107	2118	1.06e-5	PROSPERO
internal_repeat_3	2135	2146	1.06e-5	PROSPERO
low complexity region	2153	2172	N/A	INTRINSIC
internal_repeat_5	2182	2320	2.93e-5	PROSPERO
internal_repeat_1	2224	2368	3.81e-6	PROSPERO
low complexity region	2390	2425	N/A	INTRINSIC
low complexity region	2518	2539	N/A	INTRINSIC
low complexity region	2541	2550	N/A	INTRINSIC
low complexity region	2552	2571	N/A	INTRINSIC
low complexity region	2594	2607	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175240

Predicted Effect

probably benign
Transcript: ENSMUST00000186259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190568

Predicted Effect

probably benign
Transcript: ENSMUST00000190686

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218

Domain	Start	End	E-Value	Type
Pfam:cwf21	58	102	1.5e-13	PFAM
low complexity region	178	253	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC
low complexity region	319	334	N/A	INTRINSIC
internal_repeat_4	344	401	3.07e-5	PROSPERO
internal_repeat_5	355	484	3.07e-5	PROSPERO
low complexity region	503	519	N/A	INTRINSIC
CTD	560	680	5.25e-14	SMART
low complexity region	748	778	N/A	INTRINSIC
low complexity region	785	817	N/A	INTRINSIC
internal_repeat_6	828	874	5.11e-5	PROSPERO
low complexity region	875	891	N/A	INTRINSIC
low complexity region	898	920	N/A	INTRINSIC
low complexity region	935	949	N/A	INTRINSIC
internal_repeat_2	955	1220	6.62e-6	PROSPERO
internal_repeat_1	1151	1279	3.97e-6	PROSPERO
internal_repeat_4	1209	1262	3.07e-5	PROSPERO
internal_repeat_6	1265	1309	5.11e-5	PROSPERO
low complexity region	1332	1340	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC
low complexity region	1386	1408	N/A	INTRINSIC
internal_repeat_2	1409	1581	6.62e-6	PROSPERO
low complexity region	1589	1621	N/A	INTRINSIC
low complexity region	1641	1651	N/A	INTRINSIC
low complexity region	1655	1816	N/A	INTRINSIC
low complexity region	1830	2015	N/A	INTRINSIC
low complexity region	2022	2047	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
low complexity region	2175	2201	N/A	INTRINSIC
internal_repeat_3	2203	2214	1.1e-5	PROSPERO
internal_repeat_3	2231	2242	1.1e-5	PROSPERO
low complexity region	2249	2268	N/A	INTRINSIC
internal_repeat_5	2278	2416	3.07e-5	PROSPERO
internal_repeat_1	2320	2464	3.97e-6	PROSPERO
low complexity region	2486	2521	N/A	INTRINSIC
low complexity region	2614	2635	N/A	INTRINSIC
low complexity region	2637	2646	N/A	INTRINSIC
low complexity region	2648	2667	N/A	INTRINSIC
low complexity region	2690	2703	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aimp1	A	T	3: 132,382,904 (GRCm39)		probably benign	Het
Arpc5	A	G	1: 152,644,658 (GRCm39)	I64V	probably benign	Het
C030048H21Rik	G	A	2: 26,146,632 (GRCm39)	R1227W	probably damaging	Het
Cacnb1	T	C	11: 97,913,190 (GRCm39)	E21G	possibly damaging	Het
Catsper3	A	G	13: 55,946,635 (GRCm39)	K111E	possibly damaging	Het
Cda	T	C	4: 138,095,157 (GRCm39)	Y33C	probably damaging	Het
Celsr3	A	T	9: 108,726,124 (GRCm39)	R3118W	probably damaging	Het
Clvs1	G	A	4: 9,281,939 (GRCm39)	G128R	probably damaging	Het
Col9a1	A	G	1: 24,224,306 (GRCm39)	S163G	unknown	Het
Cyp4v3	T	C	8: 45,760,040 (GRCm39)	D64G	probably benign	Het
Dst	C	A	1: 34,290,920 (GRCm39)	L837M	probably damaging	Het
Eif2ak4	T	A	2: 118,294,536 (GRCm39)	I1349N	probably damaging	Het
Glipr1	T	A	10: 111,821,555 (GRCm39)	I216L	probably benign	Het
Gm3238	C	T	10: 77,607,126 (GRCm39)		probably benign	Het
Gm43638	C	T	5: 87,608,258 (GRCm39)	R527H	probably damaging	Het
H2-M11	A	G	17: 36,858,445 (GRCm39)	K80E	probably benign	Het
Htt	A	G	5: 35,053,370 (GRCm39)		probably null	Het
Kif26a	A	G	12: 112,124,066 (GRCm39)	S224G	probably damaging	Het
Mgat5b	T	A	11: 116,822,488 (GRCm39)	M74K	probably damaging	Het
Ms4a7	A	T	19: 11,299,724 (GRCm39)	V89D	probably damaging	Het
Nlrx1	G	A	9: 44,175,365 (GRCm39)	T137I	probably benign	Het
Pcdhb12	A	G	18: 37,570,035 (GRCm39)	T394A	probably benign	Het
Pkhd1l1	T	C	15: 44,340,982 (GRCm39)	I151T	probably damaging	Het
Plcl1	T	C	1: 55,445,695 (GRCm39)	V50A	probably benign	Het
Prkd2	T	C	7: 16,599,787 (GRCm39)	F750S	probably damaging	Het
Psmd13	T	C	7: 140,477,534 (GRCm39)	V311A	probably damaging	Het
Rec8	C	T	14: 55,860,972 (GRCm39)	Q334*	probably null	Het
Rfx7	G	A	9: 72,514,972 (GRCm39)	V157I	probably damaging	Het
Sele	G	A	1: 163,879,403 (GRCm39)	C312Y	probably damaging	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tma16	G	T	8: 66,933,097 (GRCm39)	Q95K	probably benign	Het
Vmn1r191	T	C	13: 22,362,890 (GRCm39)	D288G	probably damaging	Het
Vmn1r231	A	T	17: 21,110,828 (GRCm39)	I29N	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,389 (GRCm39)	L750*	probably null	Het

Other mutations in Elob

Allele	Source	Chr	Coord	Type	Predicted Effect
R4735:Elob	UTSW	17	24,046,562 (GRCm39)	splice site	probably null
R7560:Elob	UTSW	17	24,043,950 (GRCm39)	missense	probably benign
R8409:Elob	UTSW	17	24,043,933 (GRCm39)	missense	probably benign

Posted On

2015-04-16