Incidental Mutation 'IGL03133:Ubxn7'
| ID |
410411 |
| 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 # |
IGL03133
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
32151075-32212565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 32200599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 393
(L393R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115151]
[ENSMUST00000232137]
|
| AlphaFold |
Q6P5G6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115151
AA Change: L415R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: L415R
| 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: L393R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
T |
C |
10: 77,161,730 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
C |
T |
7: 51,226,260 (GRCm39) |
R505* |
probably null |
Het |
| Asphd1 |
A |
G |
7: 126,547,452 (GRCm39) |
C284R |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,943,176 (GRCm39) |
W158R |
probably benign |
Het |
| Ces2h |
T |
A |
8: 105,743,411 (GRCm39) |
D188E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,584,777 (GRCm39) |
V306I |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,396,026 (GRCm39) |
|
probably benign |
Het |
| Dennd6b |
T |
A |
15: 89,072,726 (GRCm39) |
|
probably null |
Het |
| Dmwd |
T |
A |
7: 18,810,562 (GRCm39) |
V123D |
probably damaging |
Het |
| Eno1 |
A |
G |
4: 150,329,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,176,869 (GRCm39) |
T1542I |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,296,699 (GRCm39) |
S274P |
probably benign |
Het |
| Gmpr |
T |
C |
13: 45,670,494 (GRCm39) |
V72A |
probably benign |
Het |
| Kank2 |
T |
C |
9: 21,706,937 (GRCm39) |
E27G |
probably null |
Het |
| Mtor |
G |
T |
4: 148,568,776 (GRCm39) |
A1099S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,226,244 (GRCm39) |
I763V |
probably benign |
Het |
| Or5m10 |
G |
T |
2: 85,717,478 (GRCm39) |
E111D |
probably damaging |
Het |
| Or5p63 |
G |
T |
7: 107,811,594 (GRCm39) |
S47R |
possibly damaging |
Het |
| Or8b12i |
T |
A |
9: 20,082,009 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8k27 |
A |
G |
2: 86,276,002 (GRCm39) |
I108T |
probably damaging |
Het |
| Piwil1 |
C |
A |
5: 128,819,093 (GRCm39) |
H201N |
probably benign |
Het |
| Slc26a7 |
C |
T |
4: 14,532,576 (GRCm39) |
V433M |
possibly damaging |
Het |
| Spata31d1c |
T |
C |
13: 65,182,799 (GRCm39) |
Y114H |
probably benign |
Het |
| Stx7 |
A |
T |
10: 24,060,936 (GRCm39) |
N221I |
probably damaging |
Het |
| Tbc1d31 |
A |
T |
15: 57,805,855 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
T |
17: 78,873,500 (GRCm39) |
M59L |
probably benign |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,600 (GRCm39) |
C92S |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation