Incidental Mutation 'R4016:Dtx3'
| ID |
311951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx3
|
| Ensembl Gene |
ENSMUSG00000040415 |
| Gene Name |
deltex 3, E3 ubiquitin ligase |
| Synonyms |
|
| MMRRC Submission |
040847-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R4016 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127026247-127031597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127027040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019611]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000137151]
[ENSMUST00000144322]
[ENSMUST00000218654]
[ENSMUST00000218587]
[ENSMUST00000219245]
[ENSMUST00000222006]
[ENSMUST00000167353]
|
| AlphaFold |
Q80V91 |
| 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 |
probably benign
Transcript: ENSMUST00000038217
|
| SMART Domains |
Protein: ENSMUSP00000044627
Gene: ENSMUSG00000040415
| 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 benign
Transcript: ENSMUST00000116229
AA Change: V378A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: V378A
| 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 benign
Transcript: ENSMUST00000130855
|
| SMART Domains |
Protein: ENSMUSP00000114776
Gene: ENSMUSG00000040415
| 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 benign
Transcript: ENSMUST00000144322
|
| SMART Domains |
Protein: ENSMUSP00000116510
Gene: ENSMUSG00000040415
| 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: ENSMUST00000218478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219649
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219245
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (49/49) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
| Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
| Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
| Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
| Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
| Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
| Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
| Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
| Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
| Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
| Nipal2 |
T |
G |
15: 34,600,207 (GRCm39) |
K203N |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
| Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
| Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
| Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
| Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
| Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
| Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
| Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
| Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
| Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
| Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
| Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
| Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
| Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
| Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
|
| Other mutations in Dtx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02131:Dtx3
|
APN |
10 |
127,029,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGCACCCTAGTCAGGTAGG -3'
(R):5'- CCCAATGTCATCACTTGGAACG -3'
Sequencing Primer
(F):5'- CACCCTAGTCAGGTAGGTTGGG -3'
(R):5'- TGTCATCACTTGGAACGACATC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation