Incidental Mutation 'IGL01142:Ubac1'
| ID |
50622 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubac1
|
| Ensembl Gene |
ENSMUSG00000036352 |
| Gene Name |
ubiquitin associated domain containing 1 |
| Synonyms |
Kpc2, 1110033G07Rik, Ubadc1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL01142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
25888555-25911759 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25896580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 150
(I150V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036509]
|
| AlphaFold |
Q8VDI7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036509
AA Change: I312V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040220
Gene: ENSMUSG00000036352
AA Change: I312V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBQ
|
14 |
94 |
2e-38 |
BLAST |
|
low complexity region
|
108 |
123 |
N/A |
INTRINSIC |
|
UBA
|
193 |
230 |
2e-5 |
SMART |
|
low complexity region
|
245 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
UBA
|
294 |
331 |
5.92e-8 |
SMART |
|
STI1
|
357 |
396 |
1.85e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123275
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134990
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136750
AA Change: I246V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123115
Gene: ENSMUSG00000036352
AA Change: I246V
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
10 |
37 |
4.39e-5 |
PROSPERO |
|
UBA
|
128 |
165 |
2e-5 |
SMART |
|
low complexity region
|
180 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
227 |
N/A |
INTRINSIC |
|
UBA
|
229 |
258 |
5.2e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146363
AA Change: I150V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117683
Gene: ENSMUSG00000036352
AA Change: I150V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
UBA
|
133 |
170 |
5.92e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154336
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc3 |
C |
T |
2: 19,302,709 (GRCm39) |
|
probably benign |
Het |
| Cacnb3 |
T |
A |
15: 98,539,883 (GRCm39) |
L269* |
probably null |
Het |
| Calu |
T |
C |
6: 29,366,207 (GRCm39) |
|
probably null |
Het |
| Cep97 |
A |
G |
16: 55,742,561 (GRCm39) |
S129P |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,196 (GRCm39) |
M620V |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,234,538 (GRCm39) |
|
probably null |
Het |
| Evi5 |
T |
C |
5: 107,963,477 (GRCm39) |
K410R |
probably benign |
Het |
| Gad2 |
T |
C |
2: 22,571,297 (GRCm39) |
|
probably benign |
Het |
| Helb |
A |
T |
10: 119,947,049 (GRCm39) |
V88D |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,024,960 (GRCm39) |
E19G |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,344 (GRCm39) |
Y112H |
probably damaging |
Het |
| Lin52 |
T |
C |
12: 84,503,009 (GRCm39) |
|
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,403,614 (GRCm39) |
T157A |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or7g17 |
A |
G |
9: 18,768,830 (GRCm39) |
N303S |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,931,765 (GRCm39) |
T472A |
probably benign |
Het |
| Sez6 |
T |
G |
11: 77,864,642 (GRCm39) |
V534G |
probably damaging |
Het |
| Sim1 |
C |
A |
10: 50,786,767 (GRCm39) |
T333K |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem115 |
A |
G |
9: 107,411,844 (GRCm39) |
N56S |
possibly damaging |
Het |
| Vps13a |
T |
C |
19: 16,664,479 (GRCm39) |
K1455E |
possibly damaging |
Het |
| Yrdc |
T |
C |
4: 124,747,787 (GRCm39) |
F97L |
probably damaging |
Het |
|
| Other mutations in Ubac1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4403001:Ubac1
|
UTSW |
2 |
25,896,609 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0029:Ubac1
|
UTSW |
2 |
25,911,455 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0121:Ubac1
|
UTSW |
2 |
25,898,871 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0178:Ubac1
|
UTSW |
2 |
25,911,440 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1839:Ubac1
|
UTSW |
2 |
25,897,750 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1891:Ubac1
|
UTSW |
2 |
25,904,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3716:Ubac1
|
UTSW |
2 |
25,904,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Ubac1
|
UTSW |
2 |
25,904,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3718:Ubac1
|
UTSW |
2 |
25,904,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Ubac1
|
UTSW |
2 |
25,888,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6742:Ubac1
|
UTSW |
2 |
25,895,418 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7134:Ubac1
|
UTSW |
2 |
25,904,974 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8056:Ubac1
|
UTSW |
2 |
25,897,909 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8922:Ubac1
|
UTSW |
2 |
25,896,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9469:Ubac1
|
UTSW |
2 |
25,897,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Ubac1
|
UTSW |
2 |
25,895,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ubac1
|
UTSW |
2 |
25,911,565 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation