Incidental Mutation 'R8383:Ubn1'
| ID |
647050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn1
|
| Ensembl Gene |
ENSMUSG00000039473 |
| Gene Name |
ubinuclein 1 |
| Synonyms |
1110029L11Rik, 2610108L02Rik |
| MMRRC Submission |
067749-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.662)
|
| Stock # |
R8383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4895222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 756
(E756G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052449]
[ENSMUST00000229126]
[ENSMUST00000230703]
|
| AlphaFold |
Q4G0F8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052449
AA Change: E756G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: E756G
| 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 damaging
Transcript: ENSMUST00000229126
AA Change: E756G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230703
AA Change: E756G
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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 |
|---|
| Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
| Adcyap1r1 |
T |
C |
6: 55,456,985 (GRCm39) |
S239P |
probably damaging |
Het |
| Alpk1 |
A |
T |
3: 127,518,085 (GRCm39) |
M72K |
probably benign |
Het |
| Alpk2 |
G |
T |
18: 65,438,469 (GRCm39) |
R975S |
probably benign |
Het |
| Ankrd7 |
A |
T |
6: 18,868,410 (GRCm39) |
K177N |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,235,639 (GRCm39) |
T272A |
probably damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,155,952 (GRCm39) |
Y666H |
possibly damaging |
Het |
| Cyp2j11 |
T |
C |
4: 96,236,695 (GRCm39) |
N37S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,801,588 (GRCm39) |
D81G |
probably benign |
Het |
| Dysf |
T |
A |
6: 83,996,565 (GRCm39) |
D22E |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,896,194 (GRCm39) |
T177A |
possibly damaging |
Het |
| Gm3415 |
C |
T |
5: 146,495,228 (GRCm39) |
P210L |
probably benign |
Het |
| Gm7995 |
A |
G |
14: 42,133,321 (GRCm39) |
H66R |
|
Het |
| Habp2 |
G |
A |
19: 56,304,768 (GRCm39) |
V388M |
probably damaging |
Het |
| Hey2 |
A |
G |
10: 30,716,665 (GRCm39) |
S33P |
probably benign |
Het |
| Hmbs |
C |
T |
9: 44,249,240 (GRCm39) |
R195H |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,653 (GRCm39) |
Y3297F |
unknown |
Het |
| Hspg2 |
T |
A |
4: 137,271,681 (GRCm39) |
H2482Q |
possibly damaging |
Het |
| Ifi207 |
GAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
GGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,770 (GRCm39) |
|
probably benign |
Het |
| Ifi208 |
T |
A |
1: 173,511,075 (GRCm39) |
V410E |
possibly damaging |
Het |
| Igkv3-7 |
A |
G |
6: 70,584,734 (GRCm39) |
T25A |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,451 (GRCm39) |
Q72R |
probably damaging |
Het |
| Ip6k1 |
T |
A |
9: 107,921,926 (GRCm39) |
F207I |
possibly damaging |
Het |
| Kdm6b |
A |
G |
11: 69,296,876 (GRCm39) |
S464P |
probably benign |
Het |
| Kirrel3 |
G |
T |
9: 34,941,179 (GRCm39) |
M601I |
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,690,539 (GRCm39) |
N518S |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,777,049 (GRCm39) |
S370G |
probably benign |
Het |
| Nrn1l |
T |
C |
8: 106,621,058 (GRCm39) |
L50P |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,522,343 (GRCm39) |
Y411C |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or1j15 |
A |
T |
2: 36,459,014 (GRCm39) |
I135F |
probably benign |
Het |
| Or1j20 |
A |
G |
2: 36,760,343 (GRCm39) |
Y255C |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,874 (GRCm39) |
I267V |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,578,049 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,217,759 (GRCm39) |
F1139L |
probably damaging |
Het |
| Pld2 |
G |
A |
11: 70,442,255 (GRCm39) |
D380N |
possibly damaging |
Het |
| Plekha7 |
A |
C |
7: 115,744,154 (GRCm39) |
N715K |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,353 (GRCm39) |
S20T |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rdh8 |
G |
A |
9: 20,734,081 (GRCm39) |
|
probably null |
Het |
| Rgl3 |
G |
A |
9: 21,888,529 (GRCm39) |
T427I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sclt1 |
A |
C |
3: 41,696,450 (GRCm39) |
I5S |
probably benign |
Het |
| Seh1l |
A |
G |
18: 67,908,126 (GRCm39) |
H16R |
possibly damaging |
Het |
| Sgca |
G |
A |
11: 94,863,068 (GRCm39) |
P95L |
probably benign |
Het |
| Spag17 |
T |
G |
3: 99,992,708 (GRCm39) |
S1735A |
probably damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,744 (GRCm39) |
I564T |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
11: 94,105,203 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
T |
G |
11: 73,180,127 (GRCm39) |
F524V |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,555,390 (GRCm39) |
N282S |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,291,614 (GRCm39) |
L421P |
possibly damaging |
Het |
| Tyr |
A |
T |
7: 87,133,200 (GRCm39) |
C289S |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,701,069 (GRCm39) |
M700K |
possibly damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,528 (GRCm39) |
S389P |
possibly damaging |
Het |
| Zfp667 |
T |
C |
7: 6,308,370 (GRCm39) |
L346P |
probably damaging |
Het |
| Zfp945 |
A |
G |
17: 23,070,798 (GRCm39) |
M388T |
probably benign |
Het |
| Zfp992 |
A |
G |
4: 146,551,133 (GRCm39) |
I285V |
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 |
|
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 |
|
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'- AGCTGGCTACGTTGAACAGC -3'
(R):5'- TGAGTGCCTGCATGAAAGAC -3'
Sequencing Primer
(F):5'- CTACGTTGAACAGCAGAGCAGC -3'
(R):5'- GTGCCTGCATGAAAGACTTTGAC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation