Incidental Mutation 'IGL01067:Ube4a'
ID51862
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube4a
Ensembl Gene ENSMUSG00000059890
Gene Nameubiquitination factor E4A
Synonyms9930123J21Rik, UFD2b, 4732444G18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01067
Quality Score
Status
Chromosome9
Chromosomal Location44923127-44965600 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 44944865 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 523 (Y523F)
Ref Sequence ENSEMBL: ENSMUSP00000123668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000138559] [ENSMUST00000145657] [ENSMUST00000154287]
Predicted Effect probably benign
Transcript: ENSMUST00000117506
AA Change: Y504F

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: Y504F

DomainStartEndE-ValueType
low complexity region 288 299 N/A INTRINSIC
Pfam:Ufd2P_core 330 766 2.6e-101 PFAM
Pfam:Ufd2P_core 762 935 7.4e-61 PFAM
Ubox 953 1016 1.9e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117549
AA Change: Y523F

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: Y523F

DomainStartEndE-ValueType
low complexity region 307 318 N/A INTRINSIC
Pfam:Ufd2P_core 349 991 3.4e-155 PFAM
Ubox 1010 1073 1.9e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138559
Predicted Effect probably benign
Transcript: ENSMUST00000145657
Predicted Effect probably damaging
Transcript: ENSMUST00000154287
AA Change: Y523F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: Y523F

DomainStartEndE-ValueType
low complexity region 307 318 N/A INTRINSIC
Pfam:Ufd2P_core 349 547 4.1e-39 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohn's disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
A330008L17Rik T C 8: 99,421,954 noncoding transcript Het
Acp4 C T 7: 44,253,452 V331I probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Alg6 T C 4: 99,741,570 V128A probably benign Het
Ank3 A G 10: 69,850,196 K280E probably damaging Het
Bfar T C 16: 13,685,241 C36R probably damaging Het
Car14 A G 3: 95,898,816 I311T probably damaging Het
Cd300c T C 11: 114,960,427 probably benign Het
Cfap100 T A 6: 90,406,114 E513V probably damaging Het
Clip1 C A 5: 123,630,804 K612N probably damaging Het
Depdc5 A G 5: 32,899,067 probably null Het
Dock3 A T 9: 107,082,373 probably null Het
Dph6 A T 2: 114,647,809 M17K probably damaging Het
Enkur T C 2: 21,189,231 Q177R probably benign Het
Faap100 T C 11: 120,372,132 H800R probably damaging Het
Fastkd2 T G 1: 63,737,771 probably benign Het
Fcgr2b A T 1: 170,968,053 N102K possibly damaging Het
Fezf1 C T 6: 23,247,843 V78I possibly damaging Het
Fmn2 A T 1: 174,503,319 D425V unknown Het
Fnta G A 8: 26,007,201 Q207* probably null Het
Fpr3 T A 17: 17,970,566 V33D probably benign Het
Fshr C T 17: 88,985,393 C619Y possibly damaging Het
Gbp3 T C 3: 142,566,597 probably null Het
Gjb2 A G 14: 57,100,172 V193A possibly damaging Het
Il4ra A G 7: 125,575,161 T292A probably benign Het
Lama5 A G 2: 180,176,543 probably benign Het
Marveld3 G T 8: 109,961,964 D48E possibly damaging Het
Meox1 A T 11: 101,893,773 I78N probably benign Het
Ncor1 A T 11: 62,392,528 H444Q probably damaging Het
Ndst3 T C 3: 123,546,817 Q784R probably damaging Het
Olfr1123 A G 2: 87,418,370 I107M probably benign Het
Olfr1294 T A 2: 111,538,014 I92F probably damaging Het
Pld5 A T 1: 176,274,879 probably benign Het
Plk1 G A 7: 122,168,925 R456H probably damaging Het
Polr2a T A 11: 69,748,014 I65F possibly damaging Het
Ptprd T A 4: 76,059,685 I196F probably damaging Het
Qsox2 T C 2: 26,228,396 N121S probably damaging Het
Reln A G 5: 21,979,666 L1617S probably damaging Het
Rragc T C 4: 123,929,968 F345L probably benign Het
Sass6 A T 3: 116,613,956 E240D possibly damaging Het
Shcbp1l A C 1: 153,436,024 S308R possibly damaging Het
Slc1a5 T A 7: 16,786,879 C224* probably null Het
Slc27a5 T C 7: 12,989,072 E567G probably damaging Het
Synj2 T A 17: 6,037,926 N1417K possibly damaging Het
Tbc1d9 A G 8: 83,234,162 T214A probably damaging Het
Tjp3 C A 10: 81,273,865 V835L probably benign Het
Trpc4 C A 3: 54,222,562 Q250K probably benign Het
Ttn A T 2: 76,745,162 I25129N probably damaging Het
Zfp971 G A 2: 178,023,382 probably null Het
Other mutations in Ube4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Ube4a APN 9 44948141 missense probably damaging 1.00
IGL00857:Ube4a APN 9 44932386 missense probably damaging 1.00
White_way UTSW 9 44949753 nonsense probably null
R0243:Ube4a UTSW 9 44946178 unclassified probably benign
R0355:Ube4a UTSW 9 44944801 splice site probably benign
R0680:Ube4a UTSW 9 44948060 missense probably damaging 1.00
R0863:Ube4a UTSW 9 44949816 missense possibly damaging 0.55
R0909:Ube4a UTSW 9 44939973 missense probably damaging 0.97
R1597:Ube4a UTSW 9 44929766 missense possibly damaging 0.93
R1611:Ube4a UTSW 9 44956737 intron probably benign
R1871:Ube4a UTSW 9 44944937 splice site probably null
R2069:Ube4a UTSW 9 44948099 missense probably damaging 0.96
R2518:Ube4a UTSW 9 44948137 missense probably benign 0.29
R3079:Ube4a UTSW 9 44960073 missense probably damaging 1.00
R3404:Ube4a UTSW 9 44929687 missense probably damaging 1.00
R3726:Ube4a UTSW 9 44933323 missense probably damaging 0.97
R3758:Ube4a UTSW 9 44949900 unclassified probably benign
R4027:Ube4a UTSW 9 44949900 unclassified probably benign
R4029:Ube4a UTSW 9 44949900 unclassified probably benign
R4111:Ube4a UTSW 9 44948949 missense probably damaging 0.97
R4113:Ube4a UTSW 9 44948949 missense probably damaging 0.97
R4238:Ube4a UTSW 9 44939999 missense probably damaging 1.00
R4365:Ube4a UTSW 9 44960081 missense probably damaging 1.00
R4471:Ube4a UTSW 9 44946532 unclassified probably benign
R4793:Ube4a UTSW 9 44948822 missense probably damaging 1.00
R5069:Ube4a UTSW 9 44940089 missense probably damaging 1.00
R5214:Ube4a UTSW 9 44948868 missense probably benign 0.22
R5225:Ube4a UTSW 9 44939960 critical splice donor site probably null
R5416:Ube4a UTSW 9 44941178 missense probably damaging 0.99
R5641:Ube4a UTSW 9 44950881 missense probably damaging 0.99
R5729:Ube4a UTSW 9 44933329 missense probably damaging 1.00
R5774:Ube4a UTSW 9 44953097 missense probably damaging 0.99
R5908:Ube4a UTSW 9 44948024 critical splice donor site probably null
R6191:Ube4a UTSW 9 44949753 nonsense probably null
R6752:Ube4a UTSW 9 44925948 missense probably damaging 1.00
R6886:Ube4a UTSW 9 44948843 missense probably damaging 0.96
R6911:Ube4a UTSW 9 44942758 missense probably damaging 1.00
R7417:Ube4a UTSW 9 44956713 missense probably benign 0.08
R7650:Ube4a UTSW 9 44933436 missense probably damaging 0.99
R7747:Ube4a UTSW 9 44925973 missense probably damaging 1.00
R7798:Ube4a UTSW 9 44933331 missense probably damaging 1.00
R7842:Ube4a UTSW 9 44949727 splice site probably null
R7853:Ube4a UTSW 9 44953010 missense probably benign 0.43
R8109:Ube4a UTSW 9 44935483 missense probably benign 0.00
R8223:Ube4a UTSW 9 44960035 missense possibly damaging 0.94
R8401:Ube4a UTSW 9 44941229 missense possibly damaging 0.84
R8523:Ube4a UTSW 9 44949832 missense probably damaging 1.00
R8838:Ube4a UTSW 9 44925963 missense probably damaging 1.00
X0025:Ube4a UTSW 9 44942818 missense probably benign 0.37
Posted On2013-06-21