Incidental Mutation 'R5018:Ubn1'
| ID |
389067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn1
|
| Ensembl Gene |
ENSMUSG00000039473 |
| Gene Name |
ubinuclein 1 |
| Synonyms |
1110029L11Rik, 2610108L02Rik |
| MMRRC Submission |
042609-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R5018 (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 4881589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
| 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: D207G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: D207G
| 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: D207G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229570
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230703
AA Change: D207G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,228 (GRCm39) |
F245I |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Alx4 |
G |
T |
2: 93,507,764 (GRCm39) |
G353V |
probably damaging |
Het |
| Apol7b |
A |
G |
15: 77,308,916 (GRCm39) |
F61L |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,928 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
C |
A |
2: 143,704,802 (GRCm39) |
R17L |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,947,054 (GRCm39) |
D2926E |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 18,812,044 (GRCm39) |
D166G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,260 (GRCm39) |
S1233P |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 118,094,463 (GRCm39) |
N868K |
probably benign |
Het |
| Eea1 |
T |
C |
10: 95,846,899 (GRCm39) |
V393A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,109 (GRCm39) |
V67A |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,787 (GRCm39) |
|
probably null |
Het |
| Hal |
T |
C |
10: 93,343,413 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,277,346 (GRCm39) |
L371Q |
probably damaging |
Het |
| Hpse2 |
A |
G |
19: 43,373,263 (GRCm39) |
F122S |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,972 (GRCm39) |
I1509V |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,929,156 (GRCm39) |
D334G |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,279,392 (GRCm39) |
D3870N |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,252,080 (GRCm39) |
A1867V |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,111 (GRCm39) |
L330P |
probably damaging |
Het |
| Or10g3b |
A |
C |
14: 52,586,736 (GRCm39) |
C256G |
possibly damaging |
Het |
| Pcdh15 |
T |
G |
10: 74,479,607 (GRCm39) |
S573A |
possibly damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
T |
A |
19: 44,326,048 (GRCm39) |
M134K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,309,291 (GRCm39) |
|
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,018,175 (GRCm39) |
S865T |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,845 (GRCm39) |
T309I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,634 (GRCm39) |
E837K |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,833,672 (GRCm39) |
D1095G |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,555,168 (GRCm39) |
L188* |
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,281,052 (GRCm39) |
Y219H |
probably damaging |
Het |
| Ugt2b1 |
G |
T |
5: 87,073,821 (GRCm39) |
Y179* |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,201,141 (GRCm39) |
D272V |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,774 (GRCm39) |
E497G |
probably benign |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,700 (GRCm39) |
C789F |
probably damaging |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (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 |
|
|
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 |
|
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'- TGCAGGAAACACTGTTGTTG -3'
(R):5'- AGCCTCCTTTGAAGCTGGAG -3'
Sequencing Primer
(F):5'- GGACTGCTTTGAGAGACAGC -3'
(R):5'- CCTCCTTTGAAGCTGGAGAGGAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation