Incidental Mutation 'R5225:Ube4a'
ID 402565
Institutional Source Beutler Lab
Gene Symbol Ube4a
Ensembl Gene ENSMUSG00000059890
Gene Name ubiquitination factor E4A
Synonyms UFD2b, 9930123J21Rik, 4732444G18Rik
MMRRC Submission 042798-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5225 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 44834425-44876898 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 44851258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000117549] [ENSMUST00000145657] [ENSMUST00000154287]
AlphaFold E9Q735
Predicted Effect probably null
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 null
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 null
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: 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 0.9593 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (70/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik C T 17: 9,226,839 (GRCm39) R465* probably null Het
Abcg3 A T 5: 105,114,649 (GRCm39) D289E probably damaging Het
Ablim2 G T 5: 36,024,115 (GRCm39) probably null Het
Acp1 A T 12: 30,955,078 (GRCm39) V36D probably benign Het
Adgrb1 T A 15: 74,449,348 (GRCm39) probably benign Het
Akap6 G A 12: 52,933,329 (GRCm39) V274I probably damaging Het
Arhgap39 T C 15: 76,609,715 (GRCm39) probably benign Het
Bmp1 G A 14: 70,717,605 (GRCm39) R789W probably damaging Het
Catspere2 A T 1: 177,976,474 (GRCm39) probably benign Het
Cfhr2 T A 1: 139,749,520 (GRCm39) Y154F possibly damaging Het
Cilp2 T C 8: 70,336,015 (GRCm39) Y358C probably damaging Het
Cyp1a2 T A 9: 57,584,516 (GRCm39) K513* probably null Het
Dennd4a G T 9: 64,796,210 (GRCm39) K745N possibly damaging Het
Dlg1 T A 16: 31,655,085 (GRCm39) S542T probably benign Het
Dmbt1 A T 7: 130,696,465 (GRCm39) I893F possibly damaging Het
Dnhd1 A T 7: 105,353,130 (GRCm39) E2761V possibly damaging Het
F11 T C 8: 45,708,341 (GRCm39) T40A probably benign Het
Fam227a T C 15: 79,520,936 (GRCm39) D296G possibly damaging Het
Fance C T 17: 28,534,589 (GRCm39) probably benign Het
Gaa A G 11: 119,167,669 (GRCm39) D149G probably damaging Het
Gapt A G 13: 110,490,522 (GRCm39) M47T possibly damaging Het
Gm1110 T C 9: 26,813,774 (GRCm39) N202D probably damaging Het
Gm7535 T C 17: 18,131,809 (GRCm39) probably benign Het
Gm973 T A 1: 59,601,859 (GRCm39) M491K probably benign Het
Gmnc A G 16: 26,782,695 (GRCm39) V27A probably benign Het
Kif27 T C 13: 58,440,915 (GRCm39) T1167A possibly damaging Het
Klrg1 T A 6: 122,248,331 (GRCm39) *189C probably null Het
Lime1 T A 2: 181,024,640 (GRCm39) M98K probably benign Het
Lrp1 C A 10: 127,391,965 (GRCm39) A2867S probably benign Het
Lrrd1 G A 5: 3,908,735 (GRCm39) S669N probably benign Het
Mmel1 A G 4: 154,976,456 (GRCm39) N520S probably damaging Het
Mrpl48 A C 7: 100,198,535 (GRCm39) L206V probably damaging Het
Nagpa C T 16: 5,021,596 (GRCm39) A52T probably benign Het
Or1o3 A G 17: 37,573,919 (GRCm39) V212A probably benign Het
Or4c3 T G 2: 89,851,528 (GRCm39) D294A probably benign Het
Orai2 A G 5: 136,190,355 (GRCm39) S71P probably damaging Het
Pcbp1 A T 6: 86,502,209 (GRCm39) I230N probably damaging Het
Pcdh15 T C 10: 74,138,986 (GRCm39) L349P probably damaging Het
Pcdhb16 T C 18: 37,613,011 (GRCm39) V657A probably benign Het
Prdm15 G T 16: 97,609,875 (GRCm39) H590N probably damaging Het
Psg18 T C 7: 18,079,874 (GRCm39) I442M probably damaging Het
Pygm C A 19: 6,439,494 (GRCm39) D279E probably benign Het
Rrn3 T A 16: 13,610,798 (GRCm39) probably null Het
Sass6 T C 3: 116,407,702 (GRCm39) S273P possibly damaging Het
Schip1 A G 3: 68,402,270 (GRCm39) M116V probably benign Het
Sdc3 G A 4: 130,546,087 (GRCm39) V55I unknown Het
Serpinb8 T A 1: 107,525,201 (GRCm39) M1K probably null Het
Slc24a5 T C 2: 124,927,739 (GRCm39) I346T probably damaging Het
Slc35f3 T A 8: 127,117,846 (GRCm39) I335N probably damaging Het
Snapc2 T A 8: 4,305,299 (GRCm39) V147E probably damaging Het
Snx2 T C 18: 53,322,784 (GRCm39) S56P possibly damaging Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Stk19 A T 17: 35,040,400 (GRCm39) probably benign Het
Sulf1 A G 1: 12,911,702 (GRCm39) E692G probably benign Het
Tet1 C T 10: 62,674,450 (GRCm39) V1209I probably damaging Het
Tln1 T C 4: 43,539,406 (GRCm39) T1639A probably benign Het
Tmem135 G T 7: 88,845,335 (GRCm39) Y165* probably null Het
Tmprss6 T C 15: 78,336,707 (GRCm39) T398A probably damaging Het
Vmn1r227 T C 17: 20,955,499 (GRCm39) noncoding transcript Het
Wdhd1 T C 14: 47,488,273 (GRCm39) S745G probably benign Het
Xylt1 A G 7: 117,191,263 (GRCm39) H353R probably damaging Het
Zfp788 A G 7: 41,298,980 (GRCm39) T539A probably benign Het
Zfp866 A T 8: 70,218,091 (GRCm39) F510I possibly 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
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'- CCAGAATGTATGCAGGTGGG -3'
(R):5'- TCACCTGAGGGCCAAACTAG -3'

Sequencing Primer
(F):5'- TGAGACAGAGCTGGTTTTAGCAC -3'
(R):5'- GCCAAACTAGCAGAGGTGTTAG -3'
Posted On 2016-07-22