Incidental Mutation 'R6418:Ubn1'
| ID |
518096 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubn1
|
| Ensembl Gene |
ENSMUSG00000039473 |
| Gene Name |
ubinuclein 1 |
| Synonyms |
1110029L11Rik, 2610108L02Rik |
| MMRRC Submission |
044560-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.715)
|
| Stock # |
R6418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4867921-4904153 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4899791 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 1101
(H1101R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155223
(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: H1101R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000061843
Gene: ENSMUSG00000039473
AA Change: H1101R
| 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 |
noncoding transcript
Transcript: ENSMUST00000229355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230703
AA Change: H1101R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930507D05Rik |
C |
T |
10: 62,285,441 (GRCm39) |
A55V |
unknown |
Het |
| Adra1b |
T |
G |
11: 43,667,028 (GRCm39) |
D403A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,597,405 (GRCm39) |
L9Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,426,204 (GRCm39) |
S789R |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,482,326 (GRCm39) |
S312P |
probably damaging |
Het |
| C4bp |
C |
T |
1: 130,583,750 (GRCm39) |
V73M |
probably damaging |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,598,019 (GRCm39) |
S189P |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,957,305 (GRCm39) |
N1854K |
probably damaging |
Het |
| Chrm2 |
A |
C |
6: 36,500,674 (GRCm39) |
Y177S |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Csad |
A |
G |
15: 102,087,958 (GRCm39) |
S322P |
probably damaging |
Het |
| Depdc1b |
T |
G |
13: 108,493,956 (GRCm39) |
Y115D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,020,023 (GRCm39) |
Y8C |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,656,817 (GRCm39) |
|
probably null |
Het |
| Elf5 |
A |
G |
2: 103,269,697 (GRCm39) |
T93A |
possibly damaging |
Het |
| Eogt |
C |
T |
6: 97,122,353 (GRCm39) |
D27N |
possibly damaging |
Het |
| Fam118b |
T |
C |
9: 35,146,633 (GRCm39) |
D78G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,166 (GRCm39) |
M470K |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,337,781 (GRCm39) |
T25A |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Golm1 |
T |
C |
13: 59,813,375 (GRCm39) |
Y32C |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,070,207 (GRCm39) |
V238E |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,219,583 (GRCm39) |
R907G |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Krtap24-1 |
C |
T |
16: 88,408,761 (GRCm39) |
V122I |
probably damaging |
Het |
| Lrrc10 |
T |
G |
10: 116,881,616 (GRCm39) |
L97V |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,232,457 (GRCm39) |
M371K |
probably benign |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,317 (GRCm39) |
M2K |
possibly damaging |
Het |
| Mob3b |
T |
A |
4: 34,954,049 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,570,607 (GRCm39) |
T556A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,224,032 (GRCm39) |
|
probably benign |
Het |
| Ncapg |
A |
T |
5: 45,839,158 (GRCm39) |
L519F |
probably damaging |
Het |
| Nfix |
A |
G |
8: 85,453,778 (GRCm39) |
S265P |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,522,808 (GRCm39) |
F31L |
possibly damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,823 (GRCm39) |
K185R |
probably damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,817 (GRCm39) |
V82A |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,719,514 (GRCm39) |
L280P |
probably damaging |
Het |
| Or8g35 |
C |
A |
9: 39,381,112 (GRCm39) |
K303N |
probably benign |
Het |
| Osgin2 |
T |
C |
4: 16,006,410 (GRCm39) |
T95A |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,858,108 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,879,046 (GRCm39) |
G867D |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,959 (GRCm39) |
S476P |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,623,197 (GRCm39) |
I619T |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,105,256 (GRCm39) |
R343C |
probably damaging |
Het |
| Rab2b |
T |
A |
14: 52,506,164 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,373,092 (GRCm39) |
E972V |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,686,228 (GRCm39) |
C337F |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,751 (GRCm39) |
S393P |
probably damaging |
Het |
| Stkld1 |
A |
T |
2: 26,831,093 (GRCm39) |
N90I |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,053,126 (GRCm39) |
R3406S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,040,171 (GRCm39) |
D48V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,555,081 (GRCm39) |
K268* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,661,326 (GRCm39) |
L618P |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
C |
A |
6: 136,378,099 (GRCm39) |
D244Y |
probably damaging |
Het |
| Upf2 |
G |
A |
2: 6,032,150 (GRCm39) |
V899I |
unknown |
Het |
| Ush2a |
A |
T |
1: 188,360,763 (GRCm39) |
N2161I |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,859,330 (GRCm39) |
D276V |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,915 (GRCm39) |
H279L |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,818,850 (GRCm39) |
R3019W |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,486,361 (GRCm39) |
E423D |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,582 (GRCm39) |
F95I |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,915,763 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
A |
G |
7: 48,461,149 (GRCm39) |
T362A |
possibly damaging |
Het |
| Zfp984 |
C |
T |
4: 147,845,703 (GRCm39) |
S2N |
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 |
|
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'- TGGAAGCTGCATAGTACCCG -3'
(R):5'- ATAGGCCTGTATTATTCTGGAACCC -3'
Sequencing Primer
(F):5'- TGCATAGTACCCGGGATAGCTG -3'
(R):5'- GTATTATTCTGGAACCCAAAAAGCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation