Incidental Mutation 'IGL01154:Ube4b'
ID51000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube4b
Ensembl Gene ENSMUSG00000028960
Gene Nameubiquitination factor E4B
SynonymsUFD2a, 4930551I19Rik, Ufd2p, 4933406G05Rik, UFD2, D4Bwg0973e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01154
Quality Score
Status
Chromosome4
Chromosomal Location149328416-149426749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 149365470 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2013-06-21