Incidental Mutation 'IGL02255:Dtx3l'
ID |
286560 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dtx3l
|
Ensembl Gene |
ENSMUSG00000049502 |
Gene Name |
deltex 3-like, E3 ubiquitin ligase |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
IGL02255
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
35746885-35759397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35753706 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 300
(V300A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081933]
[ENSMUST00000114885]
|
AlphaFold |
Q3UIR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081933
AA Change: V300A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000080601 Gene: ENSMUSG00000049502 AA Change: V300A
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114885
AA Change: V300A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110535 Gene: ENSMUSG00000049502 AA Change: V300A
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot4 |
C |
T |
12: 84,088,799 (GRCm39) |
L216F |
probably damaging |
Het |
Acp7 |
C |
T |
7: 28,314,148 (GRCm39) |
C349Y |
probably damaging |
Het |
Cdc42ep5 |
G |
A |
7: 4,154,399 (GRCm39) |
Q130* |
probably null |
Het |
Cip2a |
T |
A |
16: 48,831,176 (GRCm39) |
D541E |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,301,052 (GRCm39) |
I2353T |
probably benign |
Het |
Dnmt3a |
T |
A |
12: 3,922,886 (GRCm39) |
|
probably benign |
Het |
Fbxo15 |
G |
T |
18: 84,982,321 (GRCm39) |
|
probably null |
Het |
Fbxw22 |
C |
A |
9: 109,215,619 (GRCm39) |
|
probably benign |
Het |
Gli2 |
A |
T |
1: 118,772,079 (GRCm39) |
|
probably null |
Het |
Gli3 |
T |
A |
13: 15,823,304 (GRCm39) |
I342N |
probably damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,785 (GRCm39) |
N657I |
possibly damaging |
Het |
Mybpc1 |
A |
T |
10: 88,372,290 (GRCm39) |
I766N |
probably damaging |
Het |
Or5b119 |
T |
A |
19: 13,457,349 (GRCm39) |
Y71F |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,654,325 (GRCm39) |
I244N |
probably damaging |
Het |
Ret |
G |
T |
6: 118,152,081 (GRCm39) |
|
probably null |
Het |
Rrp12 |
A |
T |
19: 41,861,410 (GRCm39) |
F966I |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,647,715 (GRCm39) |
I681V |
probably benign |
Het |
Selenof |
T |
C |
3: 144,302,588 (GRCm39) |
V121A |
possibly damaging |
Het |
Srl |
A |
T |
16: 4,305,422 (GRCm39) |
V541D |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,047 (GRCm39) |
E184G |
probably benign |
Het |
Vmn2r81 |
G |
A |
10: 79,083,806 (GRCm39) |
W60* |
probably null |
Het |
Zfp526 |
A |
G |
7: 24,924,958 (GRCm39) |
M406V |
possibly damaging |
Het |
|
Other mutations in Dtx3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01814:Dtx3l
|
APN |
16 |
35,751,872 (GRCm39) |
missense |
probably benign |
0.10 |
R0560:Dtx3l
|
UTSW |
16 |
35,753,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R1123:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R1127:Dtx3l
|
UTSW |
16 |
35,759,127 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1690:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Dtx3l
|
UTSW |
16 |
35,754,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2014:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
R2015:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
R2255:Dtx3l
|
UTSW |
16 |
35,756,949 (GRCm39) |
missense |
probably benign |
0.01 |
R3023:Dtx3l
|
UTSW |
16 |
35,752,806 (GRCm39) |
missense |
probably benign |
0.01 |
R3176:Dtx3l
|
UTSW |
16 |
35,752,543 (GRCm39) |
missense |
probably benign |
0.29 |
R5224:Dtx3l
|
UTSW |
16 |
35,759,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5233:Dtx3l
|
UTSW |
16 |
35,753,608 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5375:Dtx3l
|
UTSW |
16 |
35,753,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Dtx3l
|
UTSW |
16 |
35,752,603 (GRCm39) |
missense |
probably benign |
|
R6821:Dtx3l
|
UTSW |
16 |
35,753,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Dtx3l
|
UTSW |
16 |
35,751,742 (GRCm39) |
critical splice donor site |
probably null |
|
R7242:Dtx3l
|
UTSW |
16 |
35,753,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7270:Dtx3l
|
UTSW |
16 |
35,754,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R7837:Dtx3l
|
UTSW |
16 |
35,751,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Dtx3l
|
UTSW |
16 |
35,759,120 (GRCm39) |
missense |
probably benign |
0.00 |
R8053:Dtx3l
|
UTSW |
16 |
35,759,322 (GRCm39) |
unclassified |
probably benign |
|
R8337:Dtx3l
|
UTSW |
16 |
35,754,073 (GRCm39) |
missense |
probably benign |
0.00 |
R9764:Dtx3l
|
UTSW |
16 |
35,753,277 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Dtx3l
|
UTSW |
16 |
35,753,553 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Dtx3l
|
UTSW |
16 |
35,752,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |