Incidental Mutation 'IGL03150:Ubn2'
ID |
411064 |
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: 0.915)
|
Stock # |
IGL03150
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
38410860-38489698 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 38440649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 174
(P174S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039127]
[ENSMUST00000160583]
[ENSMUST00000162593]
|
AlphaFold |
Q80WC1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039127
AA Change: P342S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036188 Gene: ENSMUSG00000038538 AA Change: P342S
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
AA Change: P342S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124043 Gene: ENSMUSG00000038538 AA Change: P342S
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 |
noncoding transcript
Transcript: ENSMUST00000161280
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162026
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162593
AA Change: P174S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000124352 Gene: ENSMUSG00000038538 AA Change: P174S
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadat |
C |
T |
8: 60,996,596 (GRCm39) |
S399L |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,002,215 (GRCm39) |
S1387P |
probably damaging |
Het |
Corin |
T |
C |
5: 72,460,201 (GRCm39) |
D886G |
probably damaging |
Het |
Cracd |
G |
A |
5: 77,015,097 (GRCm39) |
E57K |
probably damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,869,420 (GRCm39) |
K702N |
possibly damaging |
Het |
Ercc6 |
G |
T |
14: 32,280,531 (GRCm39) |
M709I |
probably damaging |
Het |
Foxa1 |
T |
A |
12: 57,589,082 (GRCm39) |
E379D |
probably benign |
Het |
Fscb |
C |
T |
12: 64,519,204 (GRCm39) |
G754D |
unknown |
Het |
Gzmb |
C |
T |
14: 56,497,839 (GRCm39) |
V134I |
probably benign |
Het |
Iho1 |
G |
T |
9: 108,282,155 (GRCm39) |
T511K |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,419,246 (GRCm39) |
T4010A |
possibly damaging |
Het |
Necab3 |
A |
G |
2: 154,396,662 (GRCm39) |
Y55H |
probably damaging |
Het |
Nova1 |
T |
C |
12: 46,747,455 (GRCm39) |
N274S |
possibly damaging |
Het |
Nup54 |
C |
A |
5: 92,576,023 (GRCm39) |
G156V |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,942,549 (GRCm39) |
C4317S |
probably damaging |
Het |
Papln |
T |
A |
12: 83,829,758 (GRCm39) |
W960R |
probably damaging |
Het |
Pax4 |
C |
A |
6: 28,444,338 (GRCm39) |
G239W |
probably null |
Het |
Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
Ptprj |
A |
G |
2: 90,290,955 (GRCm39) |
S502P |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,399,084 (GRCm39) |
R150G |
possibly damaging |
Het |
Srgap2 |
A |
T |
1: 131,238,338 (GRCm39) |
V658E |
probably damaging |
Het |
Taar7e |
A |
T |
10: 23,913,528 (GRCm39) |
D6V |
probably benign |
Het |
Trim25 |
T |
C |
11: 88,890,831 (GRCm39) |
C173R |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,329,643 (GRCm39) |
S529P |
probably benign |
Het |
Ubox5 |
A |
G |
2: 130,442,060 (GRCm39) |
V209A |
probably benign |
Het |
Vmn2r72 |
A |
G |
7: 85,400,384 (GRCm39) |
F222L |
probably damaging |
Het |
Xpot |
C |
T |
10: 121,445,091 (GRCm39) |
A374T |
probably benign |
Het |
Zfp451 |
A |
G |
1: 33,816,535 (GRCm39) |
C472R |
probably damaging |
Het |
Zfp777 |
A |
G |
6: 48,021,059 (GRCm39) |
W232R |
probably damaging |
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 |
IGL03382:Ubn2
|
APN |
6 |
38,417,382 (GRCm39) |
unclassified |
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 |