Incidental Mutation 'IGL02131:Dtx3'
| ID |
281175 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dtx3
|
| Ensembl Gene |
ENSMUSG00000040415 |
| Gene Name |
deltex 3, E3 ubiquitin ligase |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
IGL02131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127026247-127031597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127029148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 30
(D30G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013970]
[ENSMUST00000019611]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000137151]
[ENSMUST00000144322]
[ENSMUST00000222006]
[ENSMUST00000167353]
[ENSMUST00000218587]
[ENSMUST00000219245]
[ENSMUST00000218654]
|
| AlphaFold |
Q80V91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013970
|
| SMART Domains |
Protein: ENSMUSP00000013970
Gene: ENSMUSG00000025417
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
27 |
41 |
N/A |
INTRINSIC |
|
PIPKc
|
72 |
420 |
2.3e-172 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019611
|
| SMART Domains |
Protein: ENSMUSP00000019611
Gene: ENSMUSG00000019467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
171 |
N/A |
INTRINSIC |
|
RhoGEF
|
203 |
374 |
2.45e-49 |
SMART |
|
PH
|
394 |
507 |
6.67e-1 |
SMART |
|
low complexity region
|
561 |
569 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038217
AA Change: D27G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
AA Change: D27G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
73 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
154 |
N/A |
INTRINSIC |
|
RING
|
164 |
202 |
1.04e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116229
AA Change: D27G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: D27G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
73 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
154 |
N/A |
INTRINSIC |
|
RING
|
164 |
202 |
1.04e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125254
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130855
AA Change: D30G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
AA Change: D30G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
76 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
157 |
N/A |
INTRINSIC |
|
RING
|
167 |
205 |
1.04e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137151
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144322
AA Change: D30G
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415
AA Change: D30G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
75 |
N/A |
INTRINSIC |
|
coiled coil region
|
76 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167353
|
| SMART Domains |
Protein: ENSMUSP00000126339
Gene: ENSMUSG00000019467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
72 |
94 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
162 |
N/A |
INTRINSIC |
|
RhoGEF
|
194 |
365 |
2.45e-49 |
SMART |
|
PH
|
385 |
498 |
6.67e-1 |
SMART |
|
low complexity region
|
552 |
560 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219079
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218478
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513D11Rik |
T |
A |
17: 79,935,084 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,185,732 (GRCm39) |
Y1202C |
probably damaging |
Het |
| Adgrf1 |
T |
A |
17: 43,614,638 (GRCm39) |
F241I |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,621,149 (GRCm39) |
I901N |
probably damaging |
Het |
| Anxa8 |
A |
T |
14: 33,812,588 (GRCm39) |
D46V |
possibly damaging |
Het |
| Ap4e1 |
A |
G |
2: 126,903,849 (GRCm39) |
Y917C |
probably benign |
Het |
| Arhgap40 |
G |
A |
2: 158,373,859 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 117,963,734 (GRCm39) |
V2513A |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,370,009 (GRCm39) |
L4478P |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,199,868 (GRCm39) |
Y1069H |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,155 (GRCm39) |
N538K |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,843,091 (GRCm39) |
T1748A |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,001 (GRCm39) |
Y466H |
probably damaging |
Het |
| Kif2c |
G |
A |
4: 117,035,150 (GRCm39) |
S41L |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,358,462 (GRCm39) |
H52L |
possibly damaging |
Het |
| Mageb18 |
A |
G |
X: 91,163,655 (GRCm39) |
C196R |
possibly damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,352,020 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,425,491 (GRCm39) |
I345V |
possibly damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,415 (GRCm39) |
*315W |
probably null |
Het |
| Or2j3 |
T |
A |
17: 38,615,539 (GRCm39) |
H271L |
probably benign |
Het |
| Or8c11 |
A |
G |
9: 38,289,203 (GRCm39) |
T9A |
probably benign |
Het |
| Parp8 |
T |
C |
13: 117,047,409 (GRCm39) |
N221S |
probably benign |
Het |
| Plbd1 |
T |
C |
6: 136,638,681 (GRCm39) |
|
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,814,068 (GRCm39) |
W86L |
probably benign |
Het |
| Rgs6 |
T |
C |
12: 83,116,269 (GRCm39) |
S232P |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,818 (GRCm39) |
H123R |
probably benign |
Het |
| Rtf2 |
A |
G |
2: 172,308,212 (GRCm39) |
T204A |
unknown |
Het |
| Sema4d |
T |
C |
13: 51,856,973 (GRCm39) |
|
probably null |
Het |
| Septin8 |
T |
C |
11: 53,428,684 (GRCm39) |
S408P |
possibly damaging |
Het |
| Serpini1 |
A |
G |
3: 75,548,011 (GRCm39) |
N396D |
probably benign |
Het |
| Slc26a2 |
A |
C |
18: 61,331,884 (GRCm39) |
F516V |
possibly damaging |
Het |
| Tcf4 |
A |
G |
18: 69,697,697 (GRCm39) |
|
probably benign |
Het |
| Trrap |
G |
T |
5: 144,777,246 (GRCm39) |
G3045W |
probably damaging |
Het |
| Tspo2 |
T |
A |
17: 48,756,089 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,567,958 (GRCm39) |
D27645G |
probably damaging |
Het |
| Uba6 |
G |
T |
5: 86,297,936 (GRCm39) |
T246K |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wwp2 |
T |
A |
8: 108,278,950 (GRCm39) |
M136K |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,920,688 (GRCm39) |
V412D |
probably damaging |
Het |
|
| Other mutations in Dtx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02314:Dtx3
|
APN |
10 |
127,026,828 (GRCm39) |
unclassified |
probably benign |
|
|
R0257:Dtx3
|
UTSW |
10 |
127,028,761 (GRCm39) |
missense |
probably benign |
|
|
R1108:Dtx3
|
UTSW |
10 |
127,027,158 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1422:Dtx3
|
UTSW |
10 |
127,027,158 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3693:Dtx3
|
UTSW |
10 |
127,027,293 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4016:Dtx3
|
UTSW |
10 |
127,027,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4231:Dtx3
|
UTSW |
10 |
127,029,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4232:Dtx3
|
UTSW |
10 |
127,029,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4236:Dtx3
|
UTSW |
10 |
127,029,058 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4590:Dtx3
|
UTSW |
10 |
127,028,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4838:Dtx3
|
UTSW |
10 |
127,027,176 (GRCm39) |
splice site |
probably null |
|
|
R5338:Dtx3
|
UTSW |
10 |
127,028,919 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5510:Dtx3
|
UTSW |
10 |
127,028,807 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6989:Dtx3
|
UTSW |
10 |
127,028,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7225:Dtx3
|
UTSW |
10 |
127,027,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8137:Dtx3
|
UTSW |
10 |
127,029,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8293:Dtx3
|
UTSW |
10 |
127,026,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8411:Dtx3
|
UTSW |
10 |
127,028,693 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9080:Dtx3
|
UTSW |
10 |
127,027,137 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9663:Dtx3
|
UTSW |
10 |
127,028,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation