Incidental Mutation 'R4398:Ubn1'
ID 325606
Institutional Source Beutler Lab
Gene Symbol Ubn1
Ensembl Gene ENSMUSG00000039473
Gene Name ubinuclein 1
Synonyms 1110029L11Rik, 2610108L02Rik
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4867921-4904153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4882289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 250 (K250R)
Ref Sequence ENSEMBL: ENSMUSP00000155223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052449] [ENSMUST00000229126] [ENSMUST00000229570] [ENSMUST00000230703]
AlphaFold Q4G0F8
Predicted Effect probably damaging
Transcript: ENSMUST00000052449
AA Change: K250R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: K250R

DomainStartEndE-ValueType
Pfam:HUN 117 168 1.4e-22 PFAM
low complexity region 181 224 N/A INTRINSIC
low complexity region 232 238 N/A INTRINSIC
low complexity region 250 267 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
Pfam:UBN_AB 353 573 2.4e-80 PFAM
low complexity region 792 804 N/A INTRINSIC
low complexity region 856 882 N/A INTRINSIC
low complexity region 905 934 N/A INTRINSIC
low complexity region 970 984 N/A INTRINSIC
low complexity region 996 1006 N/A INTRINSIC
low complexity region 1016 1034 N/A INTRINSIC
low complexity region 1084 1098 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229060
Predicted Effect probably damaging
Transcript: ENSMUST00000229126
AA Change: K250R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000229570
AA Change: K7R

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably damaging
Transcript: ENSMUST00000230703
AA Change: K250R

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Klk1b16 A T 7: 43,790,851 (GRCm39) I218F probably damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign Het
Other mutations in Ubn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Ubn1 APN 16 4,899,778 (GRCm39) missense probably benign 0.00
IGL01726:Ubn1 APN 16 4,891,334 (GRCm39) critical splice donor site probably null
IGL01744:Ubn1 APN 16 4,889,923 (GRCm39) missense probably damaging 1.00
IGL01777:Ubn1 APN 16 4,890,013 (GRCm39) missense possibly damaging 0.46
IGL02110:Ubn1 APN 16 4,899,754 (GRCm39) splice site probably benign
IGL02667:Ubn1 APN 16 4,880,463 (GRCm39) missense probably damaging 1.00
IGL03345:Ubn1 APN 16 4,899,828 (GRCm39) missense probably damaging 0.98
R0201:Ubn1 UTSW 16 4,882,478 (GRCm39) missense probably damaging 1.00
R0437:Ubn1 UTSW 16 4,890,048 (GRCm39) critical splice donor site probably benign
R0514:Ubn1 UTSW 16 4,890,935 (GRCm39) missense probably damaging 1.00
R0550:Ubn1 UTSW 16 4,880,484 (GRCm39) splice site probably null
R0919:Ubn1 UTSW 16 4,882,255 (GRCm39) missense probably damaging 1.00
R1183:Ubn1 UTSW 16 4,882,406 (GRCm39) missense probably damaging 1.00
R1339:Ubn1 UTSW 16 4,873,199 (GRCm39) missense probably damaging 0.99
R1440:Ubn1 UTSW 16 4,895,158 (GRCm39) missense probably damaging 1.00
R1836:Ubn1 UTSW 16 4,895,255 (GRCm39) missense probably benign
R2024:Ubn1 UTSW 16 4,882,487 (GRCm39) missense probably damaging 1.00
R2026:Ubn1 UTSW 16 4,882,514 (GRCm39) missense probably damaging 1.00
R2105:Ubn1 UTSW 16 4,895,088 (GRCm39) nonsense probably null
R2896:Ubn1 UTSW 16 4,873,083 (GRCm39) missense possibly damaging 0.60
R3418:Ubn1 UTSW 16 4,892,243 (GRCm39) splice site probably benign
R3721:Ubn1 UTSW 16 4,891,242 (GRCm39) missense possibly damaging 0.59
R4033:Ubn1 UTSW 16 4,882,475 (GRCm39) missense probably damaging 1.00
R4547:Ubn1 UTSW 16 4,889,956 (GRCm39) missense probably damaging 1.00
R4646:Ubn1 UTSW 16 4,895,851 (GRCm39) missense probably damaging 0.99
R4870:Ubn1 UTSW 16 4,895,177 (GRCm39) missense probably damaging 1.00
R5018:Ubn1 UTSW 16 4,881,589 (GRCm39) missense probably damaging 1.00
R5220:Ubn1 UTSW 16 4,895,818 (GRCm39) missense probably benign 0.02
R5394:Ubn1 UTSW 16 4,892,233 (GRCm39) missense possibly damaging 0.51
R6217:Ubn1 UTSW 16 4,895,096 (GRCm39) missense probably damaging 1.00
R6372:Ubn1 UTSW 16 4,899,502 (GRCm39) missense possibly damaging 0.84
R6418:Ubn1 UTSW 16 4,899,791 (GRCm39) missense probably benign
R6823:Ubn1 UTSW 16 4,882,411 (GRCm39) missense probably damaging 1.00
R7028:Ubn1 UTSW 16 4,873,188 (GRCm39) missense probably damaging 1.00
R7203:Ubn1 UTSW 16 4,895,080 (GRCm39) missense possibly damaging 0.57
R7498:Ubn1 UTSW 16 4,894,969 (GRCm39) missense probably damaging 0.99
R7596:Ubn1 UTSW 16 4,899,422 (GRCm39) missense probably benign 0.25
R8383:Ubn1 UTSW 16 4,895,222 (GRCm39) missense possibly damaging 0.95
R8514:Ubn1 UTSW 16 4,891,263 (GRCm39) missense probably damaging 1.00
R8559:Ubn1 UTSW 16 4,882,634 (GRCm39) missense possibly damaging 0.64
R8699:Ubn1 UTSW 16 4,881,567 (GRCm39) missense possibly damaging 0.79
R9350:Ubn1 UTSW 16 4,899,422 (GRCm39) missense probably benign 0.25
R9364:Ubn1 UTSW 16 4,888,492 (GRCm39) missense unknown
R9554:Ubn1 UTSW 16 4,888,492 (GRCm39) missense unknown
RF018:Ubn1 UTSW 16 4,882,256 (GRCm39) missense probably damaging 1.00
X0067:Ubn1 UTSW 16 4,873,202 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTTCTCTTTGCCAAAAGGATGG -3'
(R):5'- TCAGAGAGTCCATGGCAGTG -3'

Sequencing Primer
(F):5'- CTTTGCCAAAAGGATGGAGGCATG -3'
(R):5'- CATGGCAGTGGCAGCTTG -3'
Posted On 2015-07-06