Incidental Mutation 'IGL03216:Ubxn10'
ID |
413484 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ubxn10
|
Ensembl Gene |
ENSMUSG00000043621 |
Gene Name |
UBX domain protein 10 |
Synonyms |
Ubxd3, 5730509E04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
IGL03216
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
138437148-138464478 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 138448050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 209
(V209M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117219
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030530]
[ENSMUST00000105808]
[ENSMUST00000105809]
[ENSMUST00000105810]
[ENSMUST00000105811]
[ENSMUST00000124660]
[ENSMUST00000146415]
|
AlphaFold |
Q8BG34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030530
|
SMART Domains |
Protein: ENSMUSP00000030530 Gene: ENSMUSG00000028750
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
143 |
1.83e-50 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105808
|
SMART Domains |
Protein: ENSMUSP00000101434 Gene: ENSMUSG00000028750
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
143 |
1.83e-50 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105809
AA Change: V209M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101435 Gene: ENSMUSG00000043621 AA Change: V209M
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
UBX
|
188 |
270 |
5.36e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105810
AA Change: V209M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101436 Gene: ENSMUSG00000043621 AA Change: V209M
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
UBX
|
188 |
270 |
5.36e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105811
AA Change: V209M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101437 Gene: ENSMUSG00000043621 AA Change: V209M
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
UBX
|
188 |
270 |
5.36e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124660
|
SMART Domains |
Protein: ENSMUSP00000124341 Gene: ENSMUSG00000028750
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
PA2c
|
21 |
128 |
1.4e-37 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146415
AA Change: V209M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117219 Gene: ENSMUSG00000043621 AA Change: V209M
Domain | Start | End | E-Value | Type |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
UBX
|
188 |
270 |
5.36e-4 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
Pnp2 |
T |
G |
14: 51,200,654 (GRCm39) |
S107A |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
probably damaging |
Het |
|
Other mutations in Ubxn10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02149:Ubxn10
|
APN |
4 |
138,448,584 (GRCm39) |
missense |
probably benign |
0.00 |
PIT1430001:Ubxn10
|
UTSW |
4 |
138,448,199 (GRCm39) |
missense |
probably benign |
0.01 |
R0885:Ubxn10
|
UTSW |
4 |
138,447,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R2031:Ubxn10
|
UTSW |
4 |
138,448,574 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4117:Ubxn10
|
UTSW |
4 |
138,448,276 (GRCm39) |
missense |
probably benign |
0.01 |
R4461:Ubxn10
|
UTSW |
4 |
138,448,187 (GRCm39) |
missense |
probably benign |
0.31 |
R4737:Ubxn10
|
UTSW |
4 |
138,463,259 (GRCm39) |
intron |
probably benign |
|
R4804:Ubxn10
|
UTSW |
4 |
138,448,515 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5739:Ubxn10
|
UTSW |
4 |
138,448,134 (GRCm39) |
missense |
probably benign |
0.01 |
R6524:Ubxn10
|
UTSW |
4 |
138,448,194 (GRCm39) |
nonsense |
probably null |
|
R7252:Ubxn10
|
UTSW |
4 |
138,448,187 (GRCm39) |
missense |
probably benign |
|
R8824:Ubxn10
|
UTSW |
4 |
138,463,178 (GRCm39) |
critical splice donor site |
probably null |
|
R9189:Ubxn10
|
UTSW |
4 |
138,448,133 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2016-08-02 |