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 |
Incidental Mutation