Incidental Mutation 'IGL01154:Ube4b'
ID 51000
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 # IGL01154
Quality Score
Status
Chromosome 4
Chromosomal Location 149412873-149511206 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149449927 bp (GRCm39)
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]
AlphaFold Q9ES00
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: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Bpifa1 T A 2: 153,985,920 (GRCm39) D78E probably benign Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging 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
IGL01093:Ube4b APN 4 149,414,726 (GRCm39) missense probably benign 0.01
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