Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01154:Ube4b'

51000

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ube4b

Ensembl Gene

ENSMUSG00000028960

Gene Name

ubiquitination factor E4B

Synonyms

UFD2a, 4930551I19Rik, Ufd2p, 4933406G05Rik, UFD2, D4Bwg0973e

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

149328416-149426749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149365470 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 412 (F412S)

Ref Sequence

ENSEMBL: ENSMUSP00000099501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103212] [ENSMUST00000172836] [ENSMUST00000174343]

PDB Structure

U-box domain of the E3 Ubiquitin Ligase E4B [SOLUTION NMR]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000084123

Predicted Effect

probably benign
Transcript: ENSMUST00000103212
AA Change: F412S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: F412S

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
Pfam:Ufd2P_core	462	1083	1.3e-199	PFAM
Ubox	1102	1164	3.94e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151896

Predicted Effect

probably benign
Transcript: ENSMUST00000172836
AA Change: F412S

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000134452
Gene: ENSMUSG00000028960
AA Change: F412S

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC
low complexity region	439	452	N/A	INTRINSIC
Pfam:Ufd2P_core	462	983	7.4e-143	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000174343

SMART Domains

Protein: ENSMUSP00000134556
Gene: ENSMUSG00000028960

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
low complexity region	21	33	N/A	INTRINSIC
low complexity region	37	50	N/A	INTRINSIC
low complexity region	76	99	N/A	INTRINSIC
low complexity region	261	278	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene die by midgestation and exhibit cardiac development defects such as hemorrhage and cardiomyocyte apoptosis. Heterozygous mice exhibit axonal dystrophy in the nucleus gracilis, degeneration of Purkinje cells and gait abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,281,094	F767V	probably benign	Het
A2m	C	A	6: 121,673,542	S1203*	probably null	Het
Abcc3	T	C	11: 94,359,232		probably benign	Het
Adamts13	T	C	2: 27,006,194	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,520,373	D51G	probably damaging	Het
Apc2	A	G	10: 80,313,069	E1319G	possibly damaging	Het
Arap3	A	T	18: 37,996,734	S125T	probably benign	Het
Atp2b1	T	A	10: 98,996,888	V417E	probably damaging	Het
Bpifa1	T	A	2: 154,144,000	D78E	probably benign	Het
Catsperb	C	A	12: 101,625,681	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,723,961	T138K	probably damaging	Het
Cenpf	T	A	1: 189,680,333	E244D	probably benign	Het
Cep135	A	T	5: 76,606,796		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,838,534	Q306L	probably benign	Het
Defa22	T	A	8: 21,163,037		probably null	Het
Dnah5	A	T	15: 28,458,656	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,690,060		probably null	Het
Flt1	A	G	5: 147,576,156	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074	M469V	probably benign	Het
Fxr2	T	C	11: 69,641,433		probably benign	Het
Gm10801	A	T	2: 98,663,983	Y135F	probably benign	Het
Grm4	A	T	17: 27,434,737	C699*	probably null	Het
Hcn4	A	G	9: 58,859,079	T677A	unknown	Het
Igkv9-123	G	T	6: 67,954,534		probably benign	Het
Irf4	T	A	13: 30,757,421	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,590,679		probably benign	Het
Kmt2c	A	G	5: 25,284,399	V1134A	probably damaging	Het
Limch1	G	T	5: 66,745,958	E17*	probably null	Het
Nap1l1	T	A	10: 111,486,675	N72K	probably damaging	Het
Olfr1265	T	C	2: 90,037,468	L183P	probably damaging	Het
Olfr574	T	C	7: 102,948,839	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,541,233	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,343,179	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,882,211	A197V	probably benign	Het
Psg25	C	T	7: 18,524,699	D351N	probably benign	Het
Sbno1	A	T	5: 124,410,249	I87N	probably damaging	Het
Stfa2l1	C	T	16: 36,159,937		probably benign	Het
Sugp2	T	A	8: 70,242,699	D107E	probably damaging	Het
Syne1	G	T	10: 5,360,848	F576L	probably damaging	Het
Syne3	A	G	12: 104,958,069	F357S	probably benign	Het
Tenm2	A	G	11: 36,041,544	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473	K117*	probably null	Het
Tram1	C	T	1: 13,579,449		probably null	Het
Trank1	T	A	9: 111,386,400	D1799E	probably benign	Het
Ttc14	A	T	3: 33,803,099	Y198F	probably benign	Het
Ube3b	A	G	5: 114,406,252	N570S	probably null	Het
Vac14	T	C	8: 110,653,607		probably benign	Het
Vmn2r65	T	C	7: 84,943,521	T493A	probably benign	Het
Zfp408	T	C	2: 91,648,006		probably benign	Het
Zfp580	C	T	7: 5,053,268	T209I	possibly damaging	Het

Other mutations in Ube4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Ube4b	APN	4	149381366	missense	probably benign	0.29
IGL00820:Ube4b	APN	4	149352921	splice site	probably benign
IGL01093:Ube4b	APN	4	149330269	missense	probably benign	0.01
IGL01612:Ube4b	APN	4	149383818	missense	probably damaging	0.98
IGL01800:Ube4b	APN	4	149331494	missense	probably damaging	1.00
IGL02149:Ube4b	APN	4	149398684	missense	possibly damaging	0.88
IGL02472:Ube4b	APN	4	149387079	critical splice donor site	probably null
IGL02839:Ube4b	APN	4	149368399	missense	probably damaging	0.98
IGL03027:Ube4b	APN	4	149381277	missense	probably damaging	1.00
R0143:Ube4b	UTSW	4	149355457	missense	possibly damaging	0.61
R0164:Ube4b	UTSW	4	149360324	missense	probably damaging	0.98
R0164:Ube4b	UTSW	4	149360324	missense	probably damaging	0.98
R0206:Ube4b	UTSW	4	149398637	missense	probably benign	0.38
R0591:Ube4b	UTSW	4	149357577	intron	probably benign
R1366:Ube4b	UTSW	4	149335149	missense	probably damaging	0.98
R1452:Ube4b	UTSW	4	149371169	missense	probably damaging	1.00
R1513:Ube4b	UTSW	4	149351578	missense	probably benign	0.17
R1668:Ube4b	UTSW	4	149361294	missense	probably benign	0.02
R1874:Ube4b	UTSW	4	149347971	missense	probably damaging	1.00
R2002:Ube4b	UTSW	4	149383797	missense	probably benign	0.16
R2050:Ube4b	UTSW	4	149344612	missense	probably damaging	1.00
R2109:Ube4b	UTSW	4	149372841	missense	probably benign	0.00
R2281:Ube4b	UTSW	4	149344572	missense	probably damaging	1.00
R3547:Ube4b	UTSW	4	149335116	missense	probably damaging	1.00
R3881:Ube4b	UTSW	4	149365404	intron	probably null
R4378:Ube4b	UTSW	4	149383798	missense	probably damaging	1.00
R4563:Ube4b	UTSW	4	149359165	intron	probably benign
R4674:Ube4b	UTSW	4	149331370	missense	possibly damaging	0.86
R4716:Ube4b	UTSW	4	149344612	missense	probably damaging	1.00
R5026:Ube4b	UTSW	4	149360565	missense	probably damaging	1.00
R5125:Ube4b	UTSW	4	149342992	missense	probably damaging	1.00
R5178:Ube4b	UTSW	4	149342992	missense	probably damaging	1.00
R5182:Ube4b	UTSW	4	149381242	missense	probably null	0.08
R5229:Ube4b	UTSW	4	149387178	missense	probably damaging	1.00
R5303:Ube4b	UTSW	4	149383803	missense	probably damaging	0.98
R5346:Ube4b	UTSW	4	149337424	missense	possibly damaging	0.91
R5780:Ube4b	UTSW	4	149331364	missense	probably benign	0.00
R5813:Ube4b	UTSW	4	149337468	missense	probably damaging	1.00
R5842:Ube4b	UTSW	4	149331430	missense	probably benign	0.01
R5994:Ube4b	UTSW	4	149372932	missense	probably damaging	0.97
R6020:Ube4b	UTSW	4	149368311	missense	probably benign	0.17
R6125:Ube4b	UTSW	4	149398746	missense	probably benign	0.13
R6272:Ube4b	UTSW	4	149387133	missense	probably damaging	1.00
R6333:Ube4b	UTSW	4	149348037	missense	probably damaging	1.00
R6426:Ube4b	UTSW	4	149425996	unclassified	probably benign
R7203:Ube4b	UTSW	4	149398610	missense	probably benign	0.30
R7341:Ube4b	UTSW	4	149343001	missense	probably damaging	1.00
Z1088:Ube4b	UTSW	4	149335125	missense	possibly damaging	0.83

Posted On

2013-06-21