Incidental Mutation 'IGL03382:Ubn2'
| ID |
420752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubn2
|
| Ensembl Gene |
ENSMUSG00000038538 |
| Gene Name |
ubinuclein 2 |
| Synonyms |
2900060J04Rik, D130059P03Rik, 6030408G03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.883)
|
| Stock # |
IGL03382
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
38410860-38489698 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 38417382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039127]
[ENSMUST00000160583]
[ENSMUST00000162593]
|
| AlphaFold |
Q80WC1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039127
|
| SMART Domains |
Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
109 |
N/A |
INTRINSIC |
|
Pfam:HUN
|
180 |
231 |
4.8e-22 |
PFAM |
|
low complexity region
|
256 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
434 |
650 |
6.4e-80 |
PFAM |
|
low complexity region
|
687 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
822 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
846 |
881 |
N/A |
INTRINSIC |
|
low complexity region
|
1002 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1156 |
1168 |
N/A |
INTRINSIC |
|
low complexity region
|
1180 |
1199 |
N/A |
INTRINSIC |
|
low complexity region
|
1247 |
1263 |
N/A |
INTRINSIC |
|
low complexity region
|
1280 |
1297 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160583
|
| SMART Domains |
Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
109 |
N/A |
INTRINSIC |
|
Pfam:HUN
|
178 |
232 |
3.8e-23 |
PFAM |
|
low complexity region
|
256 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
399 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
434 |
650 |
2.9e-86 |
PFAM |
|
low complexity region
|
685 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
844 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1040 |
N/A |
INTRINSIC |
|
low complexity region
|
1154 |
1166 |
N/A |
INTRINSIC |
|
low complexity region
|
1178 |
1197 |
N/A |
INTRINSIC |
|
low complexity region
|
1245 |
1261 |
N/A |
INTRINSIC |
|
low complexity region
|
1278 |
1295 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162593
|
| SMART Domains |
Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HUN
|
10 |
64 |
4.4e-24 |
PFAM |
|
low complexity region
|
88 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
126 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
231 |
N/A |
INTRINSIC |
|
Pfam:UBN_AB
|
266 |
482 |
3.1e-87 |
PFAM |
|
low complexity region
|
534 |
564 |
N/A |
INTRINSIC |
|
low complexity region
|
669 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
693 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
849 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
1003 |
1015 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1039 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(14) : Gene trapped(14) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,988,926 (GRCm39) |
D831G |
possibly damaging |
Het |
| Amer2 |
A |
G |
14: 60,617,331 (GRCm39) |
K509E |
possibly damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,808,771 (GRCm39) |
K449E |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,855,828 (GRCm39) |
P459L |
probably benign |
Het |
| Atr |
C |
T |
9: 95,802,875 (GRCm39) |
R1846* |
probably null |
Het |
| Brd10 |
C |
T |
19: 29,694,676 (GRCm39) |
G1606R |
probably damaging |
Het |
| Ccdc159 |
C |
A |
9: 21,842,992 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
A |
C |
3: 54,954,698 (GRCm39) |
Y338D |
probably damaging |
Het |
| Cpq |
A |
T |
15: 33,213,089 (GRCm39) |
E36V |
probably damaging |
Het |
| Cyp2c23 |
A |
G |
19: 44,003,371 (GRCm39) |
I268T |
probably damaging |
Het |
| Dctn2 |
G |
T |
10: 127,114,057 (GRCm39) |
Q332H |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,972,769 (GRCm39) |
I2055F |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,528,279 (GRCm39) |
H764R |
probably damaging |
Het |
| Gphn |
T |
A |
12: 78,528,087 (GRCm39) |
I135K |
probably damaging |
Het |
| Hnrnpul1 |
A |
G |
7: 25,450,409 (GRCm39) |
M1T |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,519,714 (GRCm39) |
D406G |
probably benign |
Het |
| Klk10 |
G |
T |
7: 43,433,883 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
A |
10: 51,367,616 (GRCm39) |
W53R |
probably benign |
Het |
| Magel2 |
T |
C |
7: 62,028,461 (GRCm39) |
V455A |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,442 (GRCm39) |
T98A |
probably benign |
Het |
| Mrps35 |
T |
A |
6: 146,951,373 (GRCm39) |
C76* |
probably null |
Het |
| Myh7b |
C |
T |
2: 155,465,399 (GRCm39) |
R701C |
probably damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,300,745 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
A |
2: 52,215,720 (GRCm39) |
M196L |
probably benign |
Het |
| Nmd3 |
A |
G |
3: 69,642,421 (GRCm39) |
K207R |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,179,129 (GRCm39) |
R962Q |
probably benign |
Het |
| Pom121 |
T |
C |
5: 135,421,261 (GRCm39) |
K230E |
unknown |
Het |
| Psme4 |
A |
G |
11: 30,757,788 (GRCm39) |
D307G |
possibly damaging |
Het |
| Rnf41 |
T |
G |
10: 128,274,149 (GRCm39) |
M267R |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,836,052 (GRCm39) |
N846D |
probably benign |
Het |
| Slc22a19 |
T |
A |
19: 7,659,227 (GRCm39) |
I463L |
probably benign |
Het |
| Slc25a39 |
A |
T |
11: 102,297,030 (GRCm39) |
|
probably null |
Het |
| Slc35b2 |
C |
T |
17: 45,877,571 (GRCm39) |
R233C |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,376,695 (GRCm39) |
L983P |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Tbc1d10a |
A |
G |
11: 4,159,984 (GRCm39) |
Y123C |
probably damaging |
Het |
| Thbs4 |
A |
C |
13: 92,906,056 (GRCm39) |
I395S |
probably benign |
Het |
| Triml2 |
A |
G |
8: 43,646,776 (GRCm39) |
T422A |
probably benign |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,555 (GRCm39) |
M141K |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,362 (GRCm39) |
E333G |
probably damaging |
Het |
| Zfp169 |
T |
C |
13: 48,644,639 (GRCm39) |
|
probably benign |
Het |
| Zfp942 |
G |
A |
17: 22,148,083 (GRCm39) |
P182L |
probably benign |
Het |
|
| Other mutations in Ubn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Ubn2
|
APN |
6 |
38,459,540 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03116:Ubn2
|
APN |
6 |
38,468,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03150:Ubn2
|
APN |
6 |
38,440,649 (GRCm39) |
missense |
probably benign |
|
|
A4554:Ubn2
|
UTSW |
6 |
38,461,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Ubn2
|
UTSW |
6 |
38,411,535 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0034:Ubn2
|
UTSW |
6 |
38,468,341 (GRCm39) |
synonymous |
silent |
|
|
R0121:Ubn2
|
UTSW |
6 |
38,429,793 (GRCm39) |
splice site |
probably benign |
|
|
R0267:Ubn2
|
UTSW |
6 |
38,459,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1864:Ubn2
|
UTSW |
6 |
38,417,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1865:Ubn2
|
UTSW |
6 |
38,417,425 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1892:Ubn2
|
UTSW |
6 |
38,468,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Ubn2
|
UTSW |
6 |
38,447,076 (GRCm39) |
splice site |
probably null |
|
|
R2184:Ubn2
|
UTSW |
6 |
38,461,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Ubn2
|
UTSW |
6 |
38,475,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2442:Ubn2
|
UTSW |
6 |
38,467,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3413:Ubn2
|
UTSW |
6 |
38,475,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4725:Ubn2
|
UTSW |
6 |
38,499,240 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4765:Ubn2
|
UTSW |
6 |
38,456,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Ubn2
|
UTSW |
6 |
38,464,088 (GRCm39) |
splice site |
probably null |
|
|
R4812:Ubn2
|
UTSW |
6 |
38,440,661 (GRCm39) |
missense |
probably benign |
|
|
R4934:Ubn2
|
UTSW |
6 |
38,467,433 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5580:Ubn2
|
UTSW |
6 |
38,460,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5598:Ubn2
|
UTSW |
6 |
38,467,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5672:Ubn2
|
UTSW |
6 |
38,438,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5715:Ubn2
|
UTSW |
6 |
38,438,412 (GRCm39) |
nonsense |
probably null |
|
|
R5817:Ubn2
|
UTSW |
6 |
38,456,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5919:Ubn2
|
UTSW |
6 |
38,468,423 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5937:Ubn2
|
UTSW |
6 |
38,440,917 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6033:Ubn2
|
UTSW |
6 |
38,447,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6033:Ubn2
|
UTSW |
6 |
38,447,159 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6174:Ubn2
|
UTSW |
6 |
38,438,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Ubn2
|
UTSW |
6 |
38,467,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6653:Ubn2
|
UTSW |
6 |
38,411,397 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7282:Ubn2
|
UTSW |
6 |
38,429,811 (GRCm39) |
nonsense |
probably null |
|
|
R7685:Ubn2
|
UTSW |
6 |
38,468,727 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7727:Ubn2
|
UTSW |
6 |
38,440,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7777:Ubn2
|
UTSW |
6 |
38,467,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Ubn2
|
UTSW |
6 |
38,417,475 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8218:Ubn2
|
UTSW |
6 |
38,466,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8283:Ubn2
|
UTSW |
6 |
38,475,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Ubn2
|
UTSW |
6 |
38,460,079 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9781:Ubn2
|
UTSW |
6 |
38,466,190 (GRCm39) |
missense |
probably benign |
|
|
RF024:Ubn2
|
UTSW |
6 |
38,440,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0010:Ubn2
|
UTSW |
6 |
38,460,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Posted On |
2016-08-02 |
Incidental Mutation