Incidental Mutation 'IGL02110:Ubn1'
ID |
280105 |
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)
|
Stock # |
IGL02110
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 4899754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000061843 Gene: ENSMUSG00000039473
Domain | Start | End | E-Value | Type |
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
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol7e |
A |
G |
15: 77,598,548 (GRCm39) |
|
probably null |
Het |
Arhgef40 |
C |
T |
14: 52,226,862 (GRCm39) |
T302M |
probably damaging |
Het |
Bap1 |
T |
C |
14: 30,979,371 (GRCm39) |
L458P |
probably damaging |
Het |
Bbs12 |
A |
G |
3: 37,373,336 (GRCm39) |
E43G |
probably benign |
Het |
Bod1l |
C |
T |
5: 41,973,796 (GRCm39) |
C2506Y |
probably damaging |
Het |
Ccdc170 |
A |
G |
10: 4,491,885 (GRCm39) |
|
probably null |
Het |
Chpf2 |
A |
G |
5: 24,796,710 (GRCm39) |
E552G |
probably damaging |
Het |
Comp |
T |
A |
8: 70,826,289 (GRCm39) |
I23N |
probably benign |
Het |
Cxcl2 |
T |
C |
5: 91,052,211 (GRCm39) |
|
probably benign |
Het |
Dctn5 |
T |
C |
7: 121,734,374 (GRCm39) |
F73L |
probably damaging |
Het |
Ddx5 |
T |
C |
11: 106,675,835 (GRCm39) |
E285G |
probably damaging |
Het |
Ddx60 |
T |
G |
8: 62,470,281 (GRCm39) |
|
probably null |
Het |
Dhcr24 |
T |
A |
4: 106,430,998 (GRCm39) |
I229N |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,450,739 (GRCm39) |
T3897I |
possibly damaging |
Het |
Dvl2 |
T |
A |
11: 69,898,842 (GRCm39) |
|
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,632 (GRCm39) |
V346E |
possibly damaging |
Het |
Eepd1 |
T |
C |
9: 25,514,698 (GRCm39) |
|
probably benign |
Het |
Fbln2 |
G |
T |
6: 91,211,084 (GRCm39) |
A343S |
probably benign |
Het |
Flywch1 |
T |
C |
17: 23,982,066 (GRCm39) |
|
probably null |
Het |
Gckr |
A |
T |
5: 31,456,082 (GRCm39) |
T81S |
possibly damaging |
Het |
Gm6139 |
T |
A |
5: 129,700,656 (GRCm39) |
|
noncoding transcript |
Het |
Gpcpd1 |
A |
T |
2: 132,372,530 (GRCm39) |
C657* |
probably null |
Het |
Greb1l |
A |
G |
18: 10,515,271 (GRCm39) |
I89V |
probably damaging |
Het |
Hdac4 |
G |
A |
1: 91,912,127 (GRCm39) |
P421S |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,753,082 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
A |
G |
14: 96,374,039 (GRCm39) |
L669P |
probably benign |
Het |
Mios |
A |
G |
6: 8,215,565 (GRCm39) |
R254G |
probably damaging |
Het |
Mmp19 |
A |
G |
10: 128,630,727 (GRCm39) |
N116D |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
Nadsyn1 |
T |
C |
7: 143,367,164 (GRCm39) |
Y141C |
probably damaging |
Het |
Nlrp4d |
T |
C |
7: 10,116,491 (GRCm39) |
|
noncoding transcript |
Het |
Nob1 |
A |
T |
8: 108,142,804 (GRCm39) |
*160R |
probably null |
Het |
Or10ac1 |
A |
G |
6: 42,515,113 (GRCm39) |
V281A |
possibly damaging |
Het |
Or1f12 |
T |
A |
13: 21,722,112 (GRCm39) |
Q21L |
possibly damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,697 (GRCm39) |
T228A |
probably benign |
Het |
Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
Or51s1 |
C |
T |
7: 102,558,402 (GRCm39) |
V215I |
probably benign |
Het |
Or56b1b |
C |
A |
7: 108,164,286 (GRCm39) |
A239S |
probably damaging |
Het |
Phc1 |
T |
C |
6: 122,298,994 (GRCm39) |
D658G |
possibly damaging |
Het |
Pitx2 |
T |
G |
3: 129,012,466 (GRCm39) |
S299A |
probably damaging |
Het |
Plekha7 |
C |
A |
7: 115,753,863 (GRCm39) |
|
probably null |
Het |
Ptgfr |
A |
G |
3: 151,541,097 (GRCm39) |
V137A |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,167,108 (GRCm39) |
|
probably benign |
Het |
Rasl2-9 |
C |
T |
7: 5,128,346 (GRCm39) |
A195T |
probably benign |
Het |
Ripor3 |
T |
A |
2: 167,836,626 (GRCm39) |
Q121L |
possibly damaging |
Het |
Sgsh |
G |
T |
11: 119,243,632 (GRCm39) |
A30E |
probably damaging |
Het |
Sis |
G |
T |
3: 72,836,032 (GRCm39) |
C852* |
probably null |
Het |
Slc17a9 |
A |
G |
2: 180,374,369 (GRCm39) |
|
probably benign |
Het |
Slco6b1 |
A |
T |
1: 96,915,607 (GRCm39) |
|
noncoding transcript |
Het |
Smarca2 |
A |
G |
19: 26,650,140 (GRCm39) |
Y704C |
possibly damaging |
Het |
Spata6 |
A |
T |
4: 111,642,003 (GRCm39) |
H291L |
possibly damaging |
Het |
Stra8 |
T |
C |
6: 34,907,289 (GRCm39) |
|
probably benign |
Het |
Taldo1 |
T |
C |
7: 140,982,647 (GRCm39) |
|
probably benign |
Het |
Tmco6 |
T |
C |
18: 36,868,219 (GRCm39) |
|
probably benign |
Het |
Tmpo |
A |
C |
10: 90,998,727 (GRCm39) |
S353R |
probably damaging |
Het |
Tpr |
A |
T |
1: 150,311,493 (GRCm39) |
Q1757L |
probably damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,327,534 (GRCm39) |
V714A |
possibly damaging |
Het |
Zfp407 |
G |
T |
18: 84,577,165 (GRCm39) |
A1316D |
probably benign |
Het |
Zzef1 |
T |
A |
11: 72,803,938 (GRCm39) |
I2560N |
probably damaging |
Het |
|
Other mutations in Ubn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |