Incidental Mutation 'IGL00430:Dexi'
ID |
4012 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dexi
|
Ensembl Gene |
ENSMUSG00000038055 |
Gene Name |
dexamethasone-induced transcript |
Synonyms |
1810029J14Rik, D16Bwg0586e |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL00430
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
10348071-10360918 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10360309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 82
(D82E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038145]
[ENSMUST00000038281]
[ENSMUST00000066345]
[ENSMUST00000115824]
[ENSMUST00000115827]
[ENSMUST00000115828]
[ENSMUST00000184863]
[ENSMUST00000155633]
[ENSMUST00000150894]
|
AlphaFold |
Q9WUQ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038145
|
SMART Domains |
Protein: ENSMUSP00000040267 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
199 |
9.2e-61 |
PFAM |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
low complexity region
|
897 |
912 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000038281
AA Change: D82E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000047676 Gene: ENSMUSG00000038055 AA Change: D82E
Domain | Start | End | E-Value | Type |
Pfam:Dexa_ind
|
1 |
95 |
4.6e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066345
|
SMART Domains |
Protein: ENSMUSP00000065423 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
199 |
1.1e-60 |
PFAM |
coiled coil region
|
398 |
419 |
N/A |
INTRINSIC |
low complexity region
|
877 |
924 |
N/A |
INTRINSIC |
low complexity region
|
943 |
955 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115824
|
SMART Domains |
Protein: ENSMUSP00000111490 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
198 |
5.9e-66 |
PFAM |
coiled coil region
|
398 |
419 |
N/A |
INTRINSIC |
low complexity region
|
877 |
924 |
N/A |
INTRINSIC |
low complexity region
|
943 |
955 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115827
|
SMART Domains |
Protein: ENSMUSP00000111493 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
199 |
8.7e-61 |
PFAM |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115828
|
SMART Domains |
Protein: ENSMUSP00000111494 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
199 |
2.1e-61 |
PFAM |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184863
AA Change: D82E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000139108 Gene: ENSMUSG00000038055 AA Change: D82E
Domain | Start | End | E-Value | Type |
Pfam:Dexa_ind
|
1 |
95 |
4.6e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155633
|
SMART Domains |
Protein: ENSMUSP00000123189 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
Pfam:FPL
|
51 |
199 |
1.1e-60 |
PFAM |
coiled coil region
|
396 |
417 |
N/A |
INTRINSIC |
low complexity region
|
875 |
922 |
N/A |
INTRINSIC |
low complexity region
|
941 |
953 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150894
|
SMART Domains |
Protein: ENSMUSP00000114577 Gene: ENSMUSG00000068663
Domain | Start | End | E-Value | Type |
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
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 |
Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
Rcan2 |
A |
G |
17: 44,147,275 (GRCm39) |
T38A |
probably benign |
Het |
Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
Het |
|
Other mutations in Dexi |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0540:Dexi
|
UTSW |
16 |
10,360,426 (GRCm39) |
nonsense |
probably null |
|
R0607:Dexi
|
UTSW |
16 |
10,360,426 (GRCm39) |
nonsense |
probably null |
|
R1899:Dexi
|
UTSW |
16 |
10,360,382 (GRCm39) |
missense |
probably damaging |
0.97 |
R3713:Dexi
|
UTSW |
16 |
10,360,553 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
R3715:Dexi
|
UTSW |
16 |
10,360,553 (GRCm39) |
start codon destroyed |
probably null |
0.05 |
R7804:Dexi
|
UTSW |
16 |
10,360,349 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9044:Dexi
|
UTSW |
16 |
10,321,385 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2012-04-20 |