Incidental Mutation 'R2896:Ubn1'
ID |
260805 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ubn1
|
Ensembl Gene |
ENSMUSG00000039473 |
Gene Name |
ubinuclein 1 |
Synonyms |
1110029L11Rik, 2610108L02Rik |
MMRRC Submission |
040484-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.715)
|
Stock # |
R2896 (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 4873083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 35
(H35R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052449]
[ENSMUST00000229126]
[ENSMUST00000230703]
|
AlphaFold |
Q4G0F8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052449
AA Change: H35R
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000061843 Gene: ENSMUSG00000039473 AA Change: H35R
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 |
possibly damaging
Transcript: ENSMUST00000229126
AA Change: H35R
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230703
AA Change: H35R
PolyPhen 2
Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.0583 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (30/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd14b |
C |
T |
9: 106,327,313 (GRCm39) |
R32C |
probably benign |
Het |
Bpifb4 |
T |
G |
2: 153,796,357 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
T |
A |
4: 100,828,100 (GRCm39) |
L616Q |
probably damaging |
Het |
Cmklr2 |
T |
A |
1: 63,222,321 (GRCm39) |
I305L |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,956,680 (GRCm39) |
L381P |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Esp6 |
T |
A |
17: 40,873,834 (GRCm39) |
M7K |
possibly damaging |
Het |
Fam83d |
G |
A |
2: 158,627,898 (GRCm39) |
R529Q |
probably damaging |
Het |
Gm26526 |
T |
G |
7: 39,238,437 (GRCm39) |
|
noncoding transcript |
Het |
Gm8374 |
T |
A |
14: 18,537,084 (GRCm39) |
R47* |
probably null |
Het |
Gss |
A |
G |
2: 155,406,749 (GRCm39) |
L342P |
probably damaging |
Het |
Ighv1-67 |
T |
A |
12: 115,567,595 (GRCm39) |
T106S |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,081,955 (GRCm39) |
Y668H |
possibly damaging |
Het |
Lcmt1 |
A |
G |
7: 123,020,809 (GRCm39) |
R245G |
possibly damaging |
Het |
Lpar6 |
A |
G |
14: 73,476,716 (GRCm39) |
K226E |
probably damaging |
Het |
Or11h23 |
T |
C |
14: 50,947,973 (GRCm39) |
F62S |
probably damaging |
Het |
Pcdh19 |
TGTCTCCTCCACGTC |
TGTC |
X: 132,582,058 (GRCm39) |
|
probably null |
Het |
Pdcl |
A |
T |
2: 37,245,702 (GRCm39) |
D100E |
possibly damaging |
Het |
Phkg1 |
C |
A |
5: 129,893,471 (GRCm39) |
K326N |
possibly damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Prss1 |
G |
A |
6: 41,440,639 (GRCm39) |
W238* |
probably null |
Het |
Rdh10 |
A |
T |
1: 16,176,329 (GRCm39) |
|
probably null |
Het |
Ror1 |
T |
C |
4: 99,953,477 (GRCm39) |
L21P |
unknown |
Het |
Skint8 |
A |
G |
4: 111,807,333 (GRCm39) |
I340V |
probably null |
Het |
Spata18 |
T |
C |
5: 73,815,145 (GRCm39) |
S85P |
probably damaging |
Het |
Stard6 |
G |
A |
18: 70,609,459 (GRCm39) |
V33I |
probably benign |
Het |
Ttll3 |
G |
T |
6: 113,369,683 (GRCm39) |
A76S |
probably benign |
Het |
Ttll4 |
T |
A |
1: 74,724,517 (GRCm39) |
H562Q |
possibly damaging |
Het |
Ubr4 |
A |
G |
4: 139,182,955 (GRCm39) |
|
probably null |
Het |
Zfp456 |
T |
C |
13: 67,515,416 (GRCm39) |
R97G |
possibly 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTTGGTTTGACCTGGCCC -3'
(R):5'- AGATAAACTTGAGGCAGCTCAG -3'
Sequencing Primer
(F):5'- CTTCTTTTCACTGTTAACAGAAACC -3'
(R):5'- TCCATGTGAACACTGGTAGC -3'
|
Posted On |
2015-01-23 |