Incidental Mutation 'IGL00821:Ubxn7'
| ID |
14695 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubxn7
|
| Ensembl Gene |
ENSMUSG00000053774 |
| Gene Name |
UBX domain protein 7 |
| Synonyms |
Ubxd7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32151075-32212565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32188216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 125
(D125N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115151]
[ENSMUST00000232137]
|
| AlphaFold |
Q6P5G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115151
AA Change: D147N
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: D147N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:UBA_4
|
15 |
56 |
4.3e-15 |
PFAM |
|
UAS
|
137 |
260 |
3.05e-50 |
SMART |
|
low complexity region
|
312 |
328 |
N/A |
INTRINSIC |
|
UBX
|
405 |
487 |
1.16e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232137
AA Change: D125N
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cad |
T |
C |
5: 31,218,828 (GRCm39) |
Y550H |
probably damaging |
Het |
| Cep350 |
A |
G |
1: 155,737,950 (GRCm39) |
V2631A |
probably benign |
Het |
| Cpa2 |
A |
G |
6: 30,564,411 (GRCm39) |
D414G |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,282,286 (GRCm39) |
I714V |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,328,922 (GRCm39) |
I277V |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,208,248 (GRCm39) |
L418P |
probably damaging |
Het |
| F7 |
A |
G |
8: 13,078,802 (GRCm39) |
T78A |
probably benign |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Golga3 |
C |
A |
5: 110,352,799 (GRCm39) |
H897N |
possibly damaging |
Het |
| Itgae |
T |
A |
11: 73,013,974 (GRCm39) |
D724E |
probably damaging |
Het |
| Klb |
A |
T |
5: 65,529,492 (GRCm39) |
Y340F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,270,038 (GRCm39) |
L2436Q |
probably damaging |
Het |
| Krt17 |
A |
G |
11: 100,151,457 (GRCm39) |
L112P |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,289,860 (GRCm39) |
N3660Y |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,217,106 (GRCm39) |
|
probably null |
Het |
| Myh2 |
C |
T |
11: 67,088,223 (GRCm39) |
|
probably benign |
Het |
| Nr2f1 |
A |
G |
13: 78,346,233 (GRCm39) |
|
probably benign |
Het |
| Odf2l |
T |
A |
3: 144,856,748 (GRCm39) |
S568T |
probably damaging |
Het |
| Parl |
G |
A |
16: 20,116,958 (GRCm39) |
P80S |
probably damaging |
Het |
| Ppfibp2 |
T |
G |
7: 107,329,083 (GRCm39) |
F531V |
probably damaging |
Het |
| Prpf40b |
A |
G |
15: 99,214,382 (GRCm39) |
E854G |
probably benign |
Het |
| Rere |
A |
G |
4: 150,703,920 (GRCm39) |
K1551E |
probably damaging |
Het |
| Sacm1l |
A |
T |
9: 123,399,614 (GRCm39) |
Q302L |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,149,394 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,705,618 (GRCm39) |
T994A |
possibly damaging |
Het |
| Zfp667 |
A |
G |
7: 6,308,396 (GRCm39) |
N355D |
possibly damaging |
Het |
| Zfp839 |
T |
C |
12: 110,831,441 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
A |
15: 40,966,783 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Ubxn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02149:Ubxn7
|
APN |
16 |
32,194,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Ubxn7
|
APN |
16 |
32,188,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02690:Ubxn7
|
APN |
16 |
32,200,423 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03133:Ubxn7
|
APN |
16 |
32,200,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Ubxn7
|
UTSW |
16 |
32,178,864 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0583:Ubxn7
|
UTSW |
16 |
32,194,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0635:Ubxn7
|
UTSW |
16 |
32,186,235 (GRCm39) |
intron |
probably benign |
|
|
R0787:Ubxn7
|
UTSW |
16 |
32,200,581 (GRCm39) |
splice site |
probably benign |
|
|
R1658:Ubxn7
|
UTSW |
16 |
32,200,054 (GRCm39) |
splice site |
probably null |
|
|
R1916:Ubxn7
|
UTSW |
16 |
32,200,577 (GRCm39) |
splice site |
probably benign |
|
|
R2070:Ubxn7
|
UTSW |
16 |
32,191,287 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2071:Ubxn7
|
UTSW |
16 |
32,191,287 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3031:Ubxn7
|
UTSW |
16 |
32,194,125 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3871:Ubxn7
|
UTSW |
16 |
32,200,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4994:Ubxn7
|
UTSW |
16 |
32,200,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5629:Ubxn7
|
UTSW |
16 |
32,151,117 (GRCm39) |
missense |
unknown |
|
|
R6334:Ubxn7
|
UTSW |
16 |
32,191,007 (GRCm39) |
splice site |
probably null |
|
|
R6599:Ubxn7
|
UTSW |
16 |
32,203,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8230:Ubxn7
|
UTSW |
16 |
32,194,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8714:Ubxn7
|
UTSW |
16 |
32,186,229 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9234:Ubxn7
|
UTSW |
16 |
32,178,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9633:Ubxn7
|
UTSW |
16 |
32,200,248 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9778:Ubxn7
|
UTSW |
16 |
32,200,471 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2012-12-06 |
Incidental Mutation