Incidental Mutation 'IGL02667:Ubn1'
ID |
302772 |
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 # |
IGL02667
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4880463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 134
(E134G)
|
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: E134G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000061843 Gene: ENSMUSG00000039473 AA Change: E134G
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 |
noncoding transcript
Transcript: ENSMUST00000104179
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229060
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229126
AA Change: E134G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229570
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230703
AA Change: E134G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6530409C15Rik |
A |
G |
6: 28,217,670 (GRCm39) |
|
noncoding transcript |
Het |
Akr1e1 |
G |
A |
13: 4,645,666 (GRCm39) |
P174L |
possibly damaging |
Het |
Arf5 |
C |
A |
6: 28,425,198 (GRCm39) |
N95K |
probably damaging |
Het |
Atl3 |
T |
C |
19: 7,486,781 (GRCm39) |
F39L |
possibly damaging |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,730,583 (GRCm39) |
S183P |
probably damaging |
Het |
Dicer1 |
T |
A |
12: 104,681,165 (GRCm39) |
R449S |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,956,534 (GRCm39) |
I736T |
probably benign |
Het |
Eny2 |
T |
A |
15: 44,292,984 (GRCm39) |
M12K |
possibly damaging |
Het |
Fbxl21 |
C |
T |
13: 56,684,942 (GRCm39) |
R349C |
probably benign |
Het |
Gstm2 |
A |
G |
3: 107,893,424 (GRCm39) |
L13P |
probably damaging |
Het |
Gucy2g |
G |
A |
19: 55,194,609 (GRCm39) |
T936M |
possibly damaging |
Het |
Mbp |
G |
T |
18: 82,572,740 (GRCm39) |
K12N |
probably damaging |
Het |
Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
Myo18a |
A |
G |
11: 77,748,678 (GRCm39) |
|
probably benign |
Het |
Nr2f2 |
T |
C |
7: 70,007,733 (GRCm39) |
S117G |
probably damaging |
Het |
Pi4k2b |
T |
C |
5: 52,907,947 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,113,325 (GRCm39) |
F1504L |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,223,111 (GRCm39) |
W239R |
probably damaging |
Het |
Setd1b |
T |
A |
5: 123,295,560 (GRCm39) |
S1043T |
unknown |
Het |
Tgfbrap1 |
T |
C |
1: 43,106,780 (GRCm39) |
I298V |
probably benign |
Het |
Tmem190 |
T |
A |
7: 4,786,157 (GRCm39) |
D20E |
probably benign |
Het |
Tph2 |
A |
T |
10: 114,915,950 (GRCm39) |
C408S |
probably benign |
Het |
Trmt44 |
A |
C |
5: 35,728,396 (GRCm39) |
Y295D |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
Tut4 |
T |
C |
4: 108,415,905 (GRCm39) |
|
probably benign |
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 |
IGL02110:Ubn1
|
APN |
16 |
4,899,754 (GRCm39) |
splice site |
probably benign |
|
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 |