Incidental Mutation 'R5729:Ube4a'
ID 452666
Institutional Source Beutler Lab
Gene Symbol Ube4a
Ensembl Gene ENSMUSG00000059890
Gene Name ubiquitination factor E4A
Synonyms UFD2b, 9930123J21Rik, 4732444G18Rik
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44834425-44876898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44844627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 932 (S932T)
Ref Sequence ENSEMBL: ENSMUSP00000112632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000145657] [ENSMUST00000154287]
AlphaFold E9Q735
Predicted Effect probably damaging
Transcript: ENSMUST00000117506
AA Change: S875T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: S875T

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 damaging
Transcript: ENSMUST00000117549
AA Change: S932T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: S932T

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: 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
Meta Mutation Damage Score 0.0767 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Ccdc103 A T 11: 102,773,904 (GRCm39) I50F probably damaging Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging 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
R4027: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
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'- CACAGATCAAGGCAGAATGTTG -3'
(R):5'- ACTGTGGCTTTCTTCCAGAG -3'

Sequencing Primer
(F):5'- TACTGAGCAATGTCCAATGGGC -3'
(R):5'- ACTGTGGCTTTCTTCCAGAGATCAAG -3'
Posted On 2017-01-03