Incidental Mutation 'R9350:Ubn1'
| ID |
708039 |
| 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 # |
R9350 (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 A
at 4899422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1055
(H1055Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061843
(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 benign
Transcript: ENSMUST00000052449
AA Change: H1055Q
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: H1055Q
| 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: H1055Q
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230703
AA Change: H1055Q
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
A |
8: 44,022,669 (GRCm39) |
M274L |
probably benign |
Het |
| Adarb1 |
T |
A |
10: 77,158,267 (GRCm39) |
N60I |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,654,274 (GRCm39) |
N2919I |
probably damaging |
Het |
| Adora3 |
C |
T |
3: 105,814,613 (GRCm39) |
T121M |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,965,260 (GRCm39) |
N423Y |
probably damaging |
Het |
| Arhgap19 |
A |
T |
19: 41,761,566 (GRCm39) |
F466Y |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atxn7l1 |
C |
T |
12: 33,417,315 (GRCm39) |
T492I |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,170,393 (GRCm39) |
S248P |
probably damaging |
Het |
| Casp2 |
T |
C |
6: 42,246,332 (GRCm39) |
V230A |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
G |
A |
2: 157,651,445 (GRCm39) |
G240E |
possibly damaging |
Het |
| Dennd2c |
T |
C |
3: 103,039,308 (GRCm39) |
L152P |
possibly damaging |
Het |
| Dhx16 |
T |
A |
17: 36,200,203 (GRCm39) |
F874Y |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,562,369 (GRCm39) |
Y2643F |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,384,073 (GRCm39) |
V1048L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,436,307 (GRCm39) |
I4012V |
probably benign |
Het |
| Duox2 |
G |
A |
2: 122,115,729 (GRCm39) |
R1002* |
probably null |
Het |
| Ears2 |
T |
A |
7: 121,643,786 (GRCm39) |
K391* |
probably null |
Het |
| Eif4e |
T |
C |
3: 138,259,470 (GRCm39) |
V176A |
probably benign |
Het |
| Erbb4 |
T |
A |
1: 68,329,638 (GRCm39) |
I626L |
probably benign |
Het |
| Fam171a1 |
C |
T |
2: 3,226,037 (GRCm39) |
T390I |
probably benign |
Het |
| Fam187b |
A |
G |
7: 30,677,037 (GRCm39) |
E182G |
possibly damaging |
Het |
| Fam204a |
A |
G |
19: 60,209,685 (GRCm39) |
V15A |
probably benign |
Het |
| Fscn3 |
C |
T |
6: 28,430,432 (GRCm39) |
R201* |
probably null |
Het |
| Fzd6 |
A |
G |
15: 38,895,043 (GRCm39) |
D403G |
probably damaging |
Het |
| Gars1 |
G |
A |
6: 55,029,249 (GRCm39) |
A210T |
probably null |
Het |
| Gmcl1 |
A |
T |
6: 86,677,569 (GRCm39) |
I428N |
probably damaging |
Het |
| Gmip |
T |
A |
8: 70,263,832 (GRCm39) |
I92N |
probably damaging |
Het |
| Il17rc |
G |
A |
6: 113,456,048 (GRCm39) |
V298I |
probably damaging |
Het |
| Kifap3 |
A |
G |
1: 163,610,630 (GRCm39) |
I37V |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,963,789 (GRCm39) |
K505E |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,692,396 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
G |
A |
8: 96,093,002 (GRCm39) |
R127H |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,889,658 (GRCm39) |
T402A |
possibly damaging |
Het |
| Or10d1c |
A |
T |
9: 38,894,081 (GRCm39) |
N86K |
probably benign |
Het |
| Or4k6 |
T |
A |
14: 50,475,407 (GRCm39) |
I312L |
probably benign |
Het |
| Papln |
A |
T |
12: 83,833,638 (GRCm39) |
I1185F |
probably damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,705 (GRCm39) |
N399D |
probably benign |
Het |
| Pcdhgb6 |
T |
A |
18: 37,876,872 (GRCm39) |
S527T |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,743,493 (GRCm39) |
Y530* |
probably null |
Het |
| Pira2 |
A |
G |
7: 3,844,030 (GRCm39) |
S581P |
probably benign |
Het |
| Pou4f3 |
A |
T |
18: 42,528,329 (GRCm39) |
T91S |
probably benign |
Het |
| Prpf38a |
A |
G |
4: 108,424,112 (GRCm39) |
S296P |
unknown |
Het |
| Rnf213 |
T |
C |
11: 119,332,975 (GRCm39) |
V2729A |
|
Het |
| Rtl1 |
G |
A |
12: 109,557,226 (GRCm39) |
Q1538* |
probably null |
Het |
| Sars2 |
T |
C |
7: 28,447,273 (GRCm39) |
S224P |
probably damaging |
Het |
| Senp8 |
A |
G |
9: 59,645,105 (GRCm39) |
V17A |
probably benign |
Het |
| Serpinb13 |
T |
A |
1: 106,923,562 (GRCm39) |
L89* |
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,718,453 (GRCm39) |
|
probably null |
Het |
| Shank2 |
A |
G |
7: 143,960,945 (GRCm39) |
T254A |
probably benign |
Het |
| Smdt1 |
A |
T |
15: 82,231,504 (GRCm39) |
E12D |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,817,345 (GRCm39) |
N295S |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,892,208 (GRCm39) |
Q247R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,209,610 (GRCm39) |
N658K |
probably damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,348 (GRCm38) |
D137G |
probably damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,190 (GRCm39) |
T172A |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,882,333 (GRCm39) |
F1087L |
|
Het |
| Xirp2 |
T |
C |
2: 67,349,653 (GRCm39) |
S3283P |
probably damaging |
Het |
| Zeb2 |
C |
A |
2: 44,887,158 (GRCm39) |
S633I |
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 |
|
|
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 |
|
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'- CACAGGGTAGGTTCTGACTG -3'
(R):5'- AGCTATCCCGGGTACTATGCAG -3'
Sequencing Primer
(F):5'- GTGTGTGTTTCCTCCCCAGAAAG -3'
(R):5'- GGTACTATGCAGCTTCCAGAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation