Incidental Mutation 'IGL00956:Ubxn2a'
| ID |
28765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ubxn2a
|
| Ensembl Gene |
ENSMUSG00000020634 |
| Gene Name |
UBX domain protein 2A |
| Synonyms |
Ubxd4, 6330407P03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
IGL00956
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
4929032-4957705 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4933956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 152
(A152T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020962]
[ENSMUST00000141360]
[ENSMUST00000142867]
|
| AlphaFold |
Q99KJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020962
AA Change: A152T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020962
Gene: ENSMUSG00000020634
AA Change: A152T
| Domain | Start | End | E-Value | Type |
|---|
|
SEP
|
58 |
151 |
1.52e-25 |
SMART |
|
UBX
|
167 |
248 |
4.07e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141360
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142867
AA Change: A152T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118834
Gene: ENSMUSG00000020634
AA Change: A152T
| Domain | Start | End | E-Value | Type |
|---|
|
SEP
|
58 |
151 |
1.52e-25 |
SMART |
|
UBX
|
167 |
248 |
4.07e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdhr2 |
G |
T |
13: 54,866,156 (GRCm39) |
V319F |
probably damaging |
Het |
| Chac2 |
A |
G |
11: 30,936,225 (GRCm39) |
S8P |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,179,110 (GRCm39) |
Y137* |
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,153,787 (GRCm39) |
R370L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Iigp1c |
A |
C |
18: 60,379,262 (GRCm39) |
T266P |
probably damaging |
Het |
| Iqschfp |
C |
A |
3: 68,533,184 (GRCm39) |
A255E |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,607,983 (GRCm39) |
R533C |
probably damaging |
Het |
| Nckap5 |
A |
C |
1: 125,952,755 (GRCm39) |
L1266V |
probably damaging |
Het |
| Opcml |
A |
G |
9: 28,586,624 (GRCm39) |
N121S |
possibly damaging |
Het |
| Rad54b |
T |
A |
4: 11,597,833 (GRCm39) |
N239K |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,435 (GRCm39) |
D215G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,422 (GRCm39) |
I303T |
unknown |
Het |
| Slc35f3 |
G |
A |
8: 127,108,963 (GRCm39) |
A171T |
probably damaging |
Het |
| Tlk2 |
T |
A |
11: 105,138,418 (GRCm39) |
I322N |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,393,072 (GRCm39) |
V66A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,485,719 (GRCm39) |
D2943V |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,960,764 (GRCm39) |
V55A |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,610,045 (GRCm39) |
Y973H |
probably benign |
Het |
|
| Other mutations in Ubxn2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0611:Ubxn2a
|
UTSW |
12 |
4,930,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0900:Ubxn2a
|
UTSW |
12 |
4,952,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Ubxn2a
|
UTSW |
12 |
4,935,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1883:Ubxn2a
|
UTSW |
12 |
4,944,563 (GRCm39) |
nonsense |
probably null |
|
|
R2163:Ubxn2a
|
UTSW |
12 |
4,935,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Ubxn2a
|
UTSW |
12 |
4,933,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3051:Ubxn2a
|
UTSW |
12 |
4,941,322 (GRCm39) |
nonsense |
probably null |
|
|
R3052:Ubxn2a
|
UTSW |
12 |
4,941,322 (GRCm39) |
nonsense |
probably null |
|
|
R3053:Ubxn2a
|
UTSW |
12 |
4,941,322 (GRCm39) |
nonsense |
probably null |
|
|
R4204:Ubxn2a
|
UTSW |
12 |
4,944,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Ubxn2a
|
UTSW |
12 |
4,933,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Ubxn2a
|
UTSW |
12 |
4,930,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5366:Ubxn2a
|
UTSW |
12 |
4,930,741 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5518:Ubxn2a
|
UTSW |
12 |
4,952,238 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7414:Ubxn2a
|
UTSW |
12 |
4,941,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7613:Ubxn2a
|
UTSW |
12 |
4,933,832 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8914:Ubxn2a
|
UTSW |
12 |
4,930,754 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2013-04-17 |
Incidental Mutation