Incidental Mutation 'IGL00488:Ubn1'
ID 5804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubn1
Ensembl Gene ENSMUSG00000039473
Gene Name ubinuclein 1
Synonyms 1110029L11Rik, 2610108L02Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.715) question?
Stock # IGL00488
Quality Score
Status
Chromosome 16
Chromosomal Location 4867921-4904153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4899778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1097 (S1097P)
Ref Sequence ENSEMBL: ENSMUSP00000155223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035672] [ENSMUST00000052449] [ENSMUST00000229126] [ENSMUST00000230703]
AlphaFold Q4G0F8
Predicted Effect probably benign
Transcript: ENSMUST00000035672
SMART Domains Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457

DomainStartEndE-ValueType
SPEC 123 211 1.58e0 SMART
SPEC 214 315 3.38e-2 SMART
SPEC 321 483 1.11e-2 SMART
SPEC 503 610 4.96e0 SMART
Blast:SPEC 613 717 5e-59 BLAST
low complexity region 718 729 N/A INTRINSIC
Blast:SPEC 732 859 2e-60 BLAST
low complexity region 893 908 N/A INTRINSIC
low complexity region 963 982 N/A INTRINSIC
internal_repeat_2 984 1004 3.46e-5 PROSPERO
internal_repeat_1 992 1008 8.09e-7 PROSPERO
low complexity region 1011 1020 N/A INTRINSIC
low complexity region 1027 1042 N/A INTRINSIC
internal_repeat_1 1112 1128 8.09e-7 PROSPERO
coiled coil region 1180 1279 N/A INTRINSIC
low complexity region 1346 1355 N/A INTRINSIC
low complexity region 1386 1433 N/A INTRINSIC
low complexity region 1455 1479 N/A INTRINSIC
Blast:SPEC 1529 1610 8e-30 BLAST
low complexity region 1612 1630 N/A INTRINSIC
PLEC 1649 1683 1.34e-5 SMART
PLEC 1698 1733 2.23e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052449
AA Change: S1097P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: S1097P

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 probably benign
Transcript: ENSMUST00000229126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229386
Predicted Effect probably benign
Transcript: ENSMUST00000230703
AA Change: S1097P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
Validation Efficiency
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T A 3: 151,248,478 (GRCm39) S717T probably damaging Het
Bcorl1 T G X: 47,494,919 (GRCm39) V1730G probably damaging Het
Cchcr1 A G 17: 35,839,469 (GRCm39) D585G possibly damaging Het
Dnah6 A T 6: 73,063,190 (GRCm39) N2637K possibly damaging Het
Erg C A 16: 95,170,848 (GRCm39) probably benign Het
Mak C T 13: 41,209,165 (GRCm39) probably benign Het
Max T C 12: 76,985,404 (GRCm39) S132G probably damaging Het
Nfam1 T C 15: 82,907,185 (GRCm39) Y4C probably benign Het
Orc5 G T 5: 22,721,771 (GRCm39) D360E probably damaging Het
Prkdc T A 16: 15,593,711 (GRCm39) probably null Het
Ptpn18 G A 1: 34,502,200 (GRCm39) R72K probably damaging Het
R3hcc1l A G 19: 42,552,391 (GRCm39) I463V probably benign Het
Rapgef2 T C 3: 78,999,332 (GRCm39) E480G possibly damaging Het
Rictor T A 15: 6,816,071 (GRCm39) D1114E probably damaging Het
Sestd1 A G 2: 77,042,796 (GRCm39) S253P possibly damaging Het
Slk C T 19: 47,608,148 (GRCm39) T367I probably benign Het
Tasl T A X: 84,931,985 (GRCm39) Y184N possibly damaging Het
Tcirg1 T G 19: 3,949,108 (GRCm39) I394L possibly damaging Het
Ugt2b34 T A 5: 87,040,818 (GRCm39) H368L probably damaging Het
Wdr20rt T C 12: 65,272,744 (GRCm39) V69A possibly damaging Het
Wnt16 T C 6: 22,291,012 (GRCm39) S147P probably damaging Het
Other mutations in Ubn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4398:Ubn1 UTSW 16 4,882,289 (GRCm39) missense probably damaging 0.99
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
Posted On 2012-04-20