Incidental Mutation 'IGL01093:Ube4b'
ID 50885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube4b
Ensembl Gene ENSMUSG00000028960
Gene Name ubiquitination factor E4B
Synonyms UFD2a, D4Bwg0973e, 4930551I19Rik, UFD2, 4933406G05Rik, Ufd2p
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01093
Quality Score
Status
Chromosome 4
Chromosomal Location 149412873-149511206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149414726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 1128 (I1128V)
Ref Sequence ENSEMBL: ENSMUSP00000099501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103212] [ENSMUST00000138181] [ENSMUST00000172836] [ENSMUST00000174343]
AlphaFold Q9ES00
PDB Structure U-box domain of the E3 Ubiquitin Ligase E4B [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000103212
AA Change: I1128V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099501
Gene: ENSMUSG00000028960
AA Change: I1128V

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 probably benign
Transcript: ENSMUST00000138181
AA Change: I83V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122020
Gene: ENSMUSG00000028960
AA Change: I83V

DomainStartEndE-ValueType
Pfam:Ufd2P_core 1 39 1.1e-7 PFAM
Ubox 57 119 3.94e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155845
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155968
Predicted Effect probably benign
Transcript: ENSMUST00000172836
SMART Domains Protein: ENSMUSP00000134452
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
low complexity region 439 452 N/A INTRINSIC
Pfam:Ufd2P_core 462 983 7.4e-143 PFAM
Predicted Effect probably benign
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 C T 13: 4,631,139 (GRCm39) probably benign Het
Alpk2 A G 18: 65,482,400 (GRCm39) L69P probably damaging Het
C3 G T 17: 57,530,949 (GRCm39) P384Q probably damaging Het
Cobll1 T C 2: 64,928,581 (GRCm39) E953G probably damaging Het
Dnaaf9 T C 2: 130,619,156 (GRCm39) T281A probably benign Het
Dnmt1 C T 9: 20,821,081 (GRCm39) E1269K possibly damaging Het
Dync2h1 T C 9: 7,145,611 (GRCm39) R1012G probably benign Het
Fbxw24 T A 9: 109,434,041 (GRCm39) Q423L probably benign Het
Flg2 T C 3: 93,109,678 (GRCm39) S569P unknown Het
Ier5 A G 1: 154,975,139 (GRCm39) I13T probably damaging Het
Kat6a A G 8: 23,429,337 (GRCm39) D1564G possibly damaging Het
Lcn5 T C 2: 25,550,729 (GRCm39) V139A probably benign Het
Naca A G 10: 127,883,982 (GRCm39) S2138G probably damaging Het
Or1j15 T G 2: 36,458,838 (GRCm39) V76G probably damaging Het
Or5p59 T A 7: 107,702,851 (GRCm39) S112T probably benign Het
Or5w14 T G 2: 87,541,477 (GRCm39) M258L possibly damaging Het
Or6c66 A C 10: 129,461,432 (GRCm39) F166C probably damaging Het
Or6c74 A G 10: 129,869,761 (GRCm39) T89A probably benign Het
Pcdhgb8 A G 18: 37,958,089 (GRCm39) T813A probably damaging Het
Pkd1l1 T C 11: 8,851,345 (GRCm39) T696A probably benign Het
Rif1 T G 2: 51,985,960 (GRCm39) H648Q probably damaging Het
Secisbp2l C A 2: 125,582,245 (GRCm39) K1070N probably benign Het
Spock3 G A 8: 63,801,993 (GRCm39) R327Q probably benign Het
Trpm2 A G 10: 77,768,114 (GRCm39) I795T probably benign Het
Vmn1r225 A T 17: 20,723,081 (GRCm39) D174V probably damaging Het
Xpnpep3 T A 15: 81,320,969 (GRCm39) Y283N possibly damaging Het
Zfp9 C T 6: 118,442,800 (GRCm39) A99T probably benign Het
Zfp944 A G 17: 22,562,615 (GRCm39) probably benign Het
Zscan4c G A 7: 10,743,544 (GRCm39) C381Y probably benign Het
Other mutations in Ube4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Ube4b APN 4 149,465,823 (GRCm39) missense probably benign 0.29
IGL00820:Ube4b APN 4 149,437,378 (GRCm39) splice site probably benign
IGL01154:Ube4b APN 4 149,449,927 (GRCm39) missense probably benign 0.28
IGL01612:Ube4b APN 4 149,468,275 (GRCm39) missense probably damaging 0.98
IGL01800:Ube4b APN 4 149,415,951 (GRCm39) missense probably damaging 1.00
IGL02149:Ube4b APN 4 149,483,141 (GRCm39) missense possibly damaging 0.88
IGL02472:Ube4b APN 4 149,471,536 (GRCm39) critical splice donor site probably null
IGL02839:Ube4b APN 4 149,452,856 (GRCm39) missense probably damaging 0.98
IGL03027:Ube4b APN 4 149,465,734 (GRCm39) missense probably damaging 1.00
R0143:Ube4b UTSW 4 149,439,914 (GRCm39) missense possibly damaging 0.61
R0164:Ube4b UTSW 4 149,444,781 (GRCm39) missense probably damaging 0.98
R0164:Ube4b UTSW 4 149,444,781 (GRCm39) missense probably damaging 0.98
R0206:Ube4b UTSW 4 149,483,094 (GRCm39) missense probably benign 0.38
R0591:Ube4b UTSW 4 149,442,034 (GRCm39) intron probably benign
R1366:Ube4b UTSW 4 149,419,606 (GRCm39) missense probably damaging 0.98
R1452:Ube4b UTSW 4 149,455,626 (GRCm39) missense probably damaging 1.00
R1513:Ube4b UTSW 4 149,436,035 (GRCm39) missense probably benign 0.17
R1668:Ube4b UTSW 4 149,445,751 (GRCm39) missense probably benign 0.02
R1874:Ube4b UTSW 4 149,432,428 (GRCm39) missense probably damaging 1.00
R2002:Ube4b UTSW 4 149,468,254 (GRCm39) missense probably benign 0.16
R2050:Ube4b UTSW 4 149,429,069 (GRCm39) missense probably damaging 1.00
R2109:Ube4b UTSW 4 149,457,298 (GRCm39) missense probably benign 0.00
R2281:Ube4b UTSW 4 149,429,029 (GRCm39) missense probably damaging 1.00
R3547:Ube4b UTSW 4 149,419,573 (GRCm39) missense probably damaging 1.00
R3881:Ube4b UTSW 4 149,449,861 (GRCm39) splice site probably null
R4378:Ube4b UTSW 4 149,468,255 (GRCm39) missense probably damaging 1.00
R4563:Ube4b UTSW 4 149,443,622 (GRCm39) intron probably benign
R4674:Ube4b UTSW 4 149,415,827 (GRCm39) missense possibly damaging 0.86
R4716:Ube4b UTSW 4 149,429,069 (GRCm39) missense probably damaging 1.00
R5026:Ube4b UTSW 4 149,445,022 (GRCm39) missense probably damaging 1.00
R5125:Ube4b UTSW 4 149,427,449 (GRCm39) missense probably damaging 1.00
R5178:Ube4b UTSW 4 149,427,449 (GRCm39) missense probably damaging 1.00
R5182:Ube4b UTSW 4 149,465,699 (GRCm39) missense probably null 0.08
R5229:Ube4b UTSW 4 149,471,635 (GRCm39) missense probably damaging 1.00
R5303:Ube4b UTSW 4 149,468,260 (GRCm39) missense probably damaging 0.98
R5346:Ube4b UTSW 4 149,421,881 (GRCm39) missense possibly damaging 0.91
R5780:Ube4b UTSW 4 149,415,821 (GRCm39) missense probably benign 0.00
R5813:Ube4b UTSW 4 149,421,925 (GRCm39) missense probably damaging 1.00
R5842:Ube4b UTSW 4 149,415,887 (GRCm39) missense probably benign 0.01
R5994:Ube4b UTSW 4 149,457,389 (GRCm39) missense probably damaging 0.97
R6020:Ube4b UTSW 4 149,452,768 (GRCm39) missense probably benign 0.17
R6125:Ube4b UTSW 4 149,483,203 (GRCm39) missense probably benign 0.13
R6272:Ube4b UTSW 4 149,471,590 (GRCm39) missense probably damaging 1.00
R6333:Ube4b UTSW 4 149,432,494 (GRCm39) missense probably damaging 1.00
R6426:Ube4b UTSW 4 149,510,453 (GRCm39) unclassified probably benign
R7203:Ube4b UTSW 4 149,483,067 (GRCm39) missense probably benign 0.30
R7341:Ube4b UTSW 4 149,427,458 (GRCm39) missense probably damaging 1.00
R7672:Ube4b UTSW 4 149,471,661 (GRCm39) missense probably benign 0.10
R7713:Ube4b UTSW 4 149,483,238 (GRCm39) missense possibly damaging 0.53
R8175:Ube4b UTSW 4 149,435,973 (GRCm39) missense probably benign 0.13
R9042:Ube4b UTSW 4 149,444,833 (GRCm39) missense probably benign
R9173:Ube4b UTSW 4 149,415,933 (GRCm39) missense probably damaging 0.96
R9462:Ube4b UTSW 4 149,444,748 (GRCm39) missense probably damaging 0.97
R9577:Ube4b UTSW 4 149,468,231 (GRCm39) missense possibly damaging 0.51
Z1088:Ube4b UTSW 4 149,419,582 (GRCm39) missense possibly damaging 0.83
Posted On 2013-06-21