Incidental Mutation 'R3031:Ubxn7'
| ID |
264737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ubxn7
|
| Ensembl Gene |
ENSMUSG00000053774 |
| Gene Name |
UBX domain protein 7 |
| Synonyms |
Ubxd7 |
| MMRRC Submission |
040547-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3031 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32151075-32212565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32194125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 232
(D232E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115151]
[ENSMUST00000232137]
|
| AlphaFold |
Q6P5G6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115151
AA Change: D232E
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: D232E
| 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 benign
Transcript: ENSMUST00000232137
AA Change: D210E
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
| Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
| Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
| Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
| Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
| Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
| Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
| Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
| Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
| Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
| Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
| Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
| Other mutations in Ubxn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Ubxn7
|
APN |
16 |
32,188,216 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTGTTTGAAGAATCCATTGC -3'
(R):5'- TCTCTAGAGGAATACGACAAGTACC -3'
Sequencing Primer
(F):5'- TATCACGACAGTGAGGAAG -3'
(R):5'- CCTAAGGAGACCCAATAAAGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation