Incidental Mutation 'R4027:Ube4a'
ID 313042
Institutional Source Beutler Lab
Gene Symbol Ube4a
Ensembl Gene ENSMUSG00000059890
Gene Name ubiquitination factor E4A
Synonyms UFD2b, 9930123J21Rik, 4732444G18Rik
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44834425-44876898 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 44861198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000125642] [ENSMUST00000138559] [ENSMUST00000145657] [ENSMUST00000154287] [ENSMUST00000214761] [ENSMUST00000213193] [ENSMUST00000213890] [ENSMUST00000213666]
AlphaFold E9Q735
Predicted Effect probably benign
Transcript: ENSMUST00000117506
SMART Domains Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890

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
SMART Domains Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890

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: ENSMUST00000125642
Predicted Effect probably benign
Transcript: ENSMUST00000138559
Predicted Effect probably benign
Transcript: ENSMUST00000145657
Predicted Effect probably benign
Transcript: ENSMUST00000154287
SMART Domains Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890

DomainStartEndE-ValueType
low complexity region 307 318 N/A INTRINSIC
Pfam:Ufd2P_core 349 547 4.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214761
Predicted Effect probably benign
Transcript: ENSMUST00000213193
Predicted Effect probably benign
Transcript: ENSMUST00000213890
Predicted Effect probably benign
Transcript: ENSMUST00000213666
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mknk1 T A 4: 115,721,758 (GRCm39) F101I probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S probably benign Het
Other mutations in Ube4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Ube4a APN 9 44,859,439 (GRCm39) missense probably damaging 1.00
IGL00857:Ube4a APN 9 44,843,684 (GRCm39) missense probably damaging 1.00
IGL01067:Ube4a APN 9 44,856,163 (GRCm39) missense probably damaging 0.96
White_way UTSW 9 44,861,051 (GRCm39) nonsense probably null
R0243:Ube4a UTSW 9 44,857,476 (GRCm39) unclassified probably benign
R0355:Ube4a UTSW 9 44,856,099 (GRCm39) splice site probably benign
R0680:Ube4a UTSW 9 44,859,358 (GRCm39) missense probably damaging 1.00
R0863:Ube4a UTSW 9 44,861,114 (GRCm39) missense possibly damaging 0.55
R0909:Ube4a UTSW 9 44,851,271 (GRCm39) missense probably damaging 0.97
R1597:Ube4a UTSW 9 44,841,064 (GRCm39) missense possibly damaging 0.93
R1611:Ube4a UTSW 9 44,868,035 (GRCm39) intron probably benign
R1871:Ube4a UTSW 9 44,856,235 (GRCm39) splice site probably null
R2069:Ube4a UTSW 9 44,859,397 (GRCm39) missense probably damaging 0.96
R2518:Ube4a UTSW 9 44,859,435 (GRCm39) missense probably benign 0.29
R3079:Ube4a UTSW 9 44,871,371 (GRCm39) missense probably damaging 1.00
R3404:Ube4a UTSW 9 44,840,985 (GRCm39) missense probably damaging 1.00
R3726:Ube4a UTSW 9 44,844,621 (GRCm39) missense probably damaging 0.97
R3758:Ube4a UTSW 9 44,861,198 (GRCm39) unclassified probably benign
R4029:Ube4a UTSW 9 44,861,198 (GRCm39) unclassified probably benign
R4111:Ube4a UTSW 9 44,860,247 (GRCm39) missense probably damaging 0.97
R4113:Ube4a UTSW 9 44,860,247 (GRCm39) missense probably damaging 0.97
R4238:Ube4a UTSW 9 44,851,297 (GRCm39) missense probably damaging 1.00
R4365:Ube4a UTSW 9 44,871,379 (GRCm39) missense probably damaging 1.00
R4471:Ube4a UTSW 9 44,857,830 (GRCm39) unclassified probably benign
R4793:Ube4a UTSW 9 44,860,120 (GRCm39) missense probably damaging 1.00
R5069:Ube4a UTSW 9 44,851,387 (GRCm39) missense probably damaging 1.00
R5214:Ube4a UTSW 9 44,860,166 (GRCm39) missense probably benign 0.22
R5225:Ube4a UTSW 9 44,851,258 (GRCm39) critical splice donor site probably null
R5416:Ube4a UTSW 9 44,852,476 (GRCm39) missense probably damaging 0.99
R5641:Ube4a UTSW 9 44,862,179 (GRCm39) missense probably damaging 0.99
R5729:Ube4a UTSW 9 44,844,627 (GRCm39) missense probably damaging 1.00
R5774:Ube4a UTSW 9 44,864,395 (GRCm39) missense probably damaging 0.99
R5908:Ube4a UTSW 9 44,859,322 (GRCm39) critical splice donor site probably null
R6191:Ube4a UTSW 9 44,861,051 (GRCm39) nonsense probably null
R6752:Ube4a UTSW 9 44,837,246 (GRCm39) missense probably damaging 1.00
R6886:Ube4a UTSW 9 44,860,141 (GRCm39) missense probably damaging 0.96
R6911:Ube4a UTSW 9 44,854,056 (GRCm39) missense probably damaging 1.00
R7417:Ube4a UTSW 9 44,868,011 (GRCm39) missense probably benign 0.08
R7650:Ube4a UTSW 9 44,844,734 (GRCm39) missense probably damaging 0.99
R7747:Ube4a UTSW 9 44,837,271 (GRCm39) missense probably damaging 1.00
R7798:Ube4a UTSW 9 44,844,629 (GRCm39) missense probably damaging 1.00
R7842:Ube4a UTSW 9 44,861,025 (GRCm39) splice site probably null
R7853:Ube4a UTSW 9 44,864,308 (GRCm39) missense probably benign 0.43
R8109:Ube4a UTSW 9 44,846,781 (GRCm39) missense probably benign 0.00
R8223:Ube4a UTSW 9 44,871,333 (GRCm39) missense possibly damaging 0.94
R8401:Ube4a UTSW 9 44,852,527 (GRCm39) missense possibly damaging 0.84
R8523:Ube4a UTSW 9 44,861,130 (GRCm39) missense probably damaging 1.00
R8838:Ube4a UTSW 9 44,837,261 (GRCm39) missense probably damaging 1.00
R9093:Ube4a UTSW 9 44,864,462 (GRCm39) missense possibly damaging 0.66
R9314:Ube4a UTSW 9 44,854,023 (GRCm39) missense probably benign 0.00
R9365:Ube4a UTSW 9 44,862,191 (GRCm39) missense probably benign 0.09
R9545:Ube4a UTSW 9 44,843,638 (GRCm39) critical splice donor site probably null
X0025:Ube4a UTSW 9 44,854,116 (GRCm39) missense probably benign 0.37
Predicted Primers PCR Primer
(F):5'- TACTCACGGGCTCCCTGAATAG -3'
(R):5'- TGTCAGGAATTTTCAGTCCCC -3'

Sequencing Primer
(F):5'- GGCTCCCTGAATAGCTTCCAAC -3'
(R):5'- ATTTTATCCCAGCACTCAGGAGG -3'
Posted On 2015-04-30