Incidental Mutation 'R7853:Ube4a'
ID 607075
Institutional Source Beutler Lab
Gene Symbol Ube4a
Ensembl Gene ENSMUSG00000059890
Gene Name ubiquitination factor E4A
Synonyms UFD2b, 9930123J21Rik, 4732444G18Rik
MMRRC Submission 045906-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7853 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 44834425-44876898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44864308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 76 (Q76L)
Ref Sequence ENSEMBL: ENSMUSP00000113346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117506] [ENSMUST00000117549] [ENSMUST00000125642] [ENSMUST00000138559] [ENSMUST00000145657] [ENSMUST00000154287] [ENSMUST00000213193] [ENSMUST00000213666] [ENSMUST00000213890] [ENSMUST00000214761]
AlphaFold E9Q735
Predicted Effect probably benign
Transcript: ENSMUST00000117506
AA Change: Q76L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113346
Gene: ENSMUSG00000059890
AA Change: Q76L

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 possibly damaging
Transcript: ENSMUST00000117549
AA Change: Q95L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112632
Gene: ENSMUSG00000059890
AA Change: Q95L

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
AA Change: Q76L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000138559
AA Change: Q95L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000145657
Predicted Effect possibly damaging
Transcript: ENSMUST00000154287
AA Change: Q95L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123668
Gene: ENSMUSG00000059890
AA Change: Q95L

DomainStartEndE-ValueType
low complexity region 307 318 N/A INTRINSIC
Pfam:Ufd2P_core 349 547 4.1e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213193
AA Change: Q95L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000213666
Predicted Effect possibly damaging
Transcript: ENSMUST00000213890
AA Change: Q95L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214761
AA Change: Q95L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,600 (GRCm39) I26T probably damaging Het
Aadacl4 G T 4: 144,344,592 (GRCm39) A123S probably benign Het
Adamts20 A C 15: 94,243,871 (GRCm39) C619G probably damaging Het
Ahcyl1 C A 3: 107,575,604 (GRCm39) V394L probably benign Het
Ankrd17 A C 5: 90,386,825 (GRCm39) L2378V possibly damaging Het
B3gnt3 T C 8: 72,145,357 (GRCm39) Y337C probably damaging Het
Bcl10 A G 3: 145,630,266 (GRCm39) K18R possibly damaging Het
Calcr G A 6: 3,707,499 (GRCm39) A267V probably benign Het
Ces1d C T 8: 93,901,695 (GRCm39) G425S probably benign Het
Col1a1 G T 11: 94,838,505 (GRCm39) R899L unknown Het
Commd1 C T 11: 22,906,532 (GRCm39) R168H possibly damaging Het
Cps1 T C 1: 67,213,640 (GRCm39) S791P possibly damaging Het
Ctsj T A 13: 61,151,884 (GRCm39) I58F probably damaging Het
Cyp2j5 T A 4: 96,529,656 (GRCm39) K238N probably benign Het
Dlgap4 A G 2: 156,547,802 (GRCm39) D423G probably benign Het
Eef1ece2 T A 16: 20,463,010 (GRCm39) probably null Het
Egln1 T C 8: 125,675,256 (GRCm39) N180D probably benign Het
Ehd1 T C 19: 6,327,225 (GRCm39) F74S probably damaging Het
Ext1 G A 15: 52,970,881 (GRCm39) A350V probably damaging Het
Fam186b T A 15: 99,178,628 (GRCm39) I233F probably damaging Het
Fam193a T G 5: 34,597,473 (GRCm39) N91K probably benign Het
Far1 T A 7: 113,153,355 (GRCm39) N329K probably damaging Het
Fhad1 A G 4: 141,637,134 (GRCm39) S1111P probably damaging Het
Fhl2 A G 1: 43,180,984 (GRCm39) S69P probably damaging Het
Flg2 C A 3: 93,128,054 (GRCm39) P2322Q unknown Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fos T A 12: 85,522,792 (GRCm39) S235T probably benign Het
Foxf1 T A 8: 121,811,438 (GRCm39) S101T probably damaging Het
Gfer C A 17: 24,913,259 (GRCm39) D198Y probably damaging Het
Ggps1 T C 13: 14,229,034 (GRCm39) I50V probably benign Het
Gkn2 A G 6: 87,355,255 (GRCm39) T155A probably benign Het
Gna12 C T 5: 140,746,449 (GRCm39) C332Y probably damaging Het
Hc T A 2: 34,900,045 (GRCm39) Y1096F probably damaging Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Hsd17b8 T G 17: 34,246,411 (GRCm39) D117A probably benign Het
Ifi206 A T 1: 173,299,100 (GRCm39) Y835* probably null Het
Ighv13-2 T G 12: 114,321,544 (GRCm39) E65A probably damaging Het
Kif5a A T 10: 127,071,537 (GRCm39) Y770* probably null Het
Lfng A G 5: 140,593,384 (GRCm39) S72G probably benign Het
Lipo2 C T 19: 33,737,344 (GRCm39) probably benign Het
Lnpep C T 17: 17,783,109 (GRCm39) S564N probably benign Het
Mfhas1 T A 8: 36,057,025 (GRCm39) L500* probably null Het
Mllt6 G A 11: 97,561,142 (GRCm39) V277I probably benign Het
Mroh5 C T 15: 73,663,189 (GRCm39) D192N probably benign Het
Myo1f T A 17: 33,795,672 (GRCm39) V106D probably damaging Het
Mypn T A 10: 62,981,652 (GRCm39) I643F probably benign Het
Nup188 A G 2: 30,213,575 (GRCm39) N669D possibly damaging Het
Or14j5 C G 17: 38,161,714 (GRCm39) T77R probably damaging Het
Or2r11 A T 6: 42,437,573 (GRCm39) C127S probably damaging Het
Or5g26 T C 2: 85,494,689 (GRCm39) T30A probably benign Het
Or8s8 T C 15: 98,354,866 (GRCm39) V225A probably benign Het
Osbpl10 A G 9: 115,036,726 (GRCm39) T241A probably damaging Het
Peg3 C T 7: 6,711,839 (GRCm39) E1128K possibly damaging Het
Plch1 C A 3: 63,681,068 (GRCm39) M186I probably benign Het
Pon3 A C 6: 5,236,911 (GRCm39) L152R probably damaging Het
Prr36 G A 8: 4,263,905 (GRCm39) P587L unknown Het
Psma2 T A 13: 14,799,832 (GRCm39) I192N probably damaging Het
Rbm11 T C 16: 75,389,923 (GRCm39) F30L probably damaging Het
Rpap3 G A 15: 97,576,299 (GRCm39) A622V possibly damaging Het
Scgb2b11 T A 7: 31,908,807 (GRCm39) N98Y probably damaging Het
Siglec1 A G 2: 130,923,212 (GRCm39) L511P probably damaging Het
Sirpb1c C T 3: 15,887,156 (GRCm39) V228M probably damaging Het
Smpd4 T A 16: 17,460,605 (GRCm39) Y804N probably damaging Het
Sult6b2 T C 6: 142,747,524 (GRCm39) D75G not run Het
Sycp3 A C 10: 88,302,368 (GRCm39) K119N probably damaging Het
Syne2 T C 12: 76,078,278 (GRCm39) L4703P probably damaging Het
Tex12 C G 9: 50,470,523 (GRCm39) L20F possibly damaging Het
Them5 T A 3: 94,250,603 (GRCm39) Y55* probably null Het
Tmem43 A T 6: 91,458,968 (GRCm39) D213V probably benign Het
Tnfrsf10b A C 14: 70,005,239 (GRCm39) Q44P unknown Het
Trbv2 A T 6: 41,024,836 (GRCm39) Q84L probably benign Het
Trim2 C T 3: 84,212,537 (GRCm39) probably benign Het
Trim36 A G 18: 46,305,558 (GRCm39) V475A probably benign Het
Ttbk1 C A 17: 46,758,269 (GRCm39) E788D probably benign Het
Ttn T C 2: 76,543,626 (GRCm39) D33120G probably damaging Het
Ttn T A 2: 76,576,256 (GRCm39) N24879I probably damaging Het
Vmn2r27 T A 6: 124,168,980 (GRCm39) I717F probably damaging Het
Vmn2r45 T C 7: 8,485,987 (GRCm39) K434E possibly damaging Het
Vta1 T C 10: 14,531,461 (GRCm39) T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) 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
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
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
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'- ACAGGAGTGGGTTTAACCATTAG -3'
(R):5'- ACTTGCCTGGCTTGAGTTGC -3'

Sequencing Primer
(F):5'- CTTATGACCTCTGGAAGAGCAGTC -3'
(R):5'- CCTGGCTTGAGTTGCTCACTAATG -3'
Posted On 2019-12-20