Incidental Mutation 'R9554:Ubn1'
| ID |
720688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn1
|
| Ensembl Gene |
ENSMUSG00000039473 |
| Gene Name |
ubinuclein 1 |
| Synonyms |
1110029L11Rik, 2610108L02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R9554 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4888492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 154
(S154P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052449]
[ENSMUST00000229126]
[ENSMUST00000229570]
[ENSMUST00000230703]
|
| AlphaFold |
Q4G0F8 |
| 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 |
unknown
Transcript: ENSMUST00000229570
AA Change: S154P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230703
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,107 (GRCm39) |
E817G |
probably benign |
Het |
| Abhd12b |
A |
G |
12: 70,215,988 (GRCm39) |
T182A |
probably benign |
Het |
| Allc |
A |
T |
12: 28,607,414 (GRCm39) |
C279* |
probably null |
Het |
| Ang |
A |
G |
14: 51,338,976 (GRCm39) |
D39G |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,360,197 (GRCm39) |
T958M |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,784,900 (GRCm39) |
R191K |
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,753,750 (GRCm39) |
Y187C |
probably damaging |
Het |
| Cfhr4 |
A |
T |
1: 139,668,169 (GRCm39) |
S321R |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,251,015 (GRCm39) |
W616R |
probably damaging |
Het |
| Cyp17a1 |
C |
T |
19: 46,657,165 (GRCm39) |
R361H |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcp1a |
A |
G |
14: 30,201,691 (GRCm39) |
Q38R |
probably benign |
Het |
| Ddias |
T |
C |
7: 92,507,560 (GRCm39) |
N785S |
probably benign |
Het |
| Depdc5 |
A |
G |
5: 33,122,076 (GRCm39) |
N1133S |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,645,614 (GRCm39) |
Y877* |
probably null |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Fam120b |
G |
A |
17: 15,626,020 (GRCm39) |
A458T |
possibly damaging |
Het |
| Fgd4 |
G |
A |
16: 16,308,353 (GRCm39) |
T9I |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,038,915 (GRCm39) |
R108L |
probably damaging |
Het |
| Gfpt1 |
C |
T |
6: 87,062,323 (GRCm39) |
R561W |
probably damaging |
Het |
| Gm5773 |
A |
G |
3: 93,680,340 (GRCm39) |
D4G |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,882,470 (GRCm39) |
T108S |
probably damaging |
Het |
| Hivep1 |
G |
A |
13: 42,308,251 (GRCm39) |
D164N |
possibly damaging |
Het |
| Kif15 |
G |
T |
9: 122,828,585 (GRCm39) |
L902F |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,261,497 (GRCm39) |
R4481S |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,332,310 (GRCm39) |
V1209A |
probably damaging |
Het |
| Mkrn1 |
C |
T |
6: 39,376,838 (GRCm39) |
R377H |
probably benign |
Het |
| Ms4a4a |
G |
A |
19: 11,367,708 (GRCm39) |
M191I |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,018,580 (GRCm39) |
N1922I |
|
Het |
| Nbeal1 |
C |
T |
1: 60,290,287 (GRCm39) |
Q998* |
probably null |
Het |
| Neil3 |
C |
A |
8: 54,061,770 (GRCm39) |
G204C |
probably damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,066,994 (GRCm39) |
E262G |
possibly damaging |
Het |
| Oc90 |
G |
A |
15: 65,761,437 (GRCm39) |
P194S |
probably benign |
Het |
| Oplah |
A |
G |
15: 76,193,787 (GRCm39) |
S57P |
probably benign |
Het |
| Or10u4 |
A |
T |
10: 129,802,181 (GRCm39) |
F123L |
probably benign |
Het |
| Or1x6 |
T |
A |
11: 50,939,223 (GRCm39) |
Y96* |
probably null |
Het |
| Or2aj4 |
T |
A |
16: 19,384,722 (GRCm39) |
I304F |
possibly damaging |
Het |
| Or4a73 |
C |
A |
2: 89,420,710 (GRCm39) |
V250F |
probably damaging |
Het |
| Or4d5 |
T |
A |
9: 40,012,160 (GRCm39) |
M209L |
probably benign |
Het |
| Or51g1 |
A |
T |
7: 102,633,774 (GRCm39) |
I199N |
probably damaging |
Het |
| Or5p70 |
A |
G |
7: 107,994,365 (GRCm39) |
T13A |
probably benign |
Het |
| Or8g28 |
A |
C |
9: 39,169,756 (GRCm39) |
F71V |
possibly damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,333,574 (GRCm39) |
L149Q |
probably damaging |
Het |
| Pid1 |
A |
G |
1: 84,137,032 (GRCm39) |
V33A |
probably benign |
Het |
| Polr3gl |
A |
G |
3: 96,489,037 (GRCm39) |
V60A |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,317,242 (GRCm39) |
V527A |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 110,040,671 (GRCm39) |
I385M |
probably damaging |
Het |
| Setbp1 |
C |
T |
18: 78,826,599 (GRCm39) |
S1338N |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,253,006 (GRCm39) |
T389A |
probably benign |
Het |
| Skint9 |
A |
T |
4: 112,248,915 (GRCm39) |
M171K |
probably benign |
Het |
| Slx4 |
C |
A |
16: 3,805,820 (GRCm39) |
M577I |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,151,577 (GRCm39) |
S2092P |
probably damaging |
Het |
| Traf6 |
T |
A |
2: 101,518,953 (GRCm39) |
H147Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,547,693 (GRCm39) |
E32159V |
possibly damaging |
Het |
| Uchl1 |
T |
A |
5: 66,833,649 (GRCm39) |
M6K |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,989 (GRCm39) |
M1K |
probably null |
Het |
| Zfp429 |
T |
A |
13: 67,538,531 (GRCm39) |
K304N |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,464 (GRCm39) |
S307T |
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 |
|
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 |
|
|
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'- GCCAGATGTCTCAGGATCACTTC -3'
(R):5'- TCCGTTGCTGAAGATTTGTAAGTTC -3'
Sequencing Primer
(F):5'- TAATATGGTTCCAAGAAACTCAGCC -3'
(R):5'- CCAGCAGGATGCCATTAA -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation