Incidental Mutation 'IGL03345:Ubn1'
| ID |
417418 |
| 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 # |
IGL03345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4899828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1113
(H1113Q)
|
| 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 damaging
Transcript: ENSMUST00000052449
AA Change: H1113Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: H1113Q
| 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 damaging
Transcript: ENSMUST00000230703
AA Change: H1113Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,250,163 (GRCm39) |
W987R |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,069,184 (GRCm39) |
V384A |
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,306,697 (GRCm39) |
V1169A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,011,460 (GRCm39) |
T950A |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,826 (GRCm39) |
|
probably benign |
Het |
| Bccip |
A |
G |
7: 133,311,220 (GRCm39) |
D45G |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,116,508 (GRCm39) |
S729P |
probably benign |
Het |
| C3 |
T |
A |
17: 57,526,585 (GRCm39) |
I799F |
probably damaging |
Het |
| Cstf2 |
C |
T |
X: 132,961,794 (GRCm39) |
R80C |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,882,937 (GRCm39) |
H233L |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,873,056 (GRCm39) |
F1130S |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,399,332 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fat2 |
C |
T |
11: 55,173,187 (GRCm39) |
D2509N |
probably damaging |
Het |
| Fut10 |
T |
C |
8: 31,750,069 (GRCm39) |
S452P |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,293,908 (GRCm39) |
M394K |
possibly damaging |
Het |
| Gkn3 |
T |
A |
6: 87,365,798 (GRCm39) |
E7V |
probably null |
Het |
| Gpld1 |
G |
A |
13: 25,171,007 (GRCm39) |
G803R |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,724,937 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,371,321 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,053,044 (GRCm39) |
S445C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,373,154 (GRCm39) |
K266E |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,146,304 (GRCm39) |
D1454V |
probably damaging |
Het |
| Nrf1 |
A |
C |
6: 30,089,947 (GRCm39) |
T9P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,458 (GRCm39) |
E187G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,308 (GRCm39) |
|
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,142 (GRCm39) |
Y274H |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,556 (GRCm39) |
K149R |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,496,222 (GRCm39) |
E401G |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,822,466 (GRCm39) |
R234G |
possibly damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,719,633 (GRCm39) |
D554G |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,369,530 (GRCm39) |
S646G |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,206 (GRCm39) |
V231A |
probably benign |
Het |
| Timeless |
T |
G |
10: 128,083,455 (GRCm39) |
S695A |
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,868,896 (GRCm39) |
P160S |
probably damaging |
Het |
| Tspear |
C |
A |
10: 77,710,716 (GRCm39) |
|
probably null |
Het |
| Vmn2r49 |
T |
G |
7: 9,718,621 (GRCm39) |
K481T |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,213,027 (GRCm39) |
N872S |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation