Incidental Mutation 'R4236:Dtx3'
ID |
321132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx3
|
Ensembl Gene |
ENSMUSG00000040415 |
Gene Name |
deltex 3, E3 ubiquitin ligase |
Synonyms |
|
MMRRC Submission |
041053-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.369)
|
Stock # |
R4236 (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 127029058 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 60
(I60T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013970]
[ENSMUST00000019611]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000144322]
[ENSMUST00000137151]
[ENSMUST00000222006]
[ENSMUST00000219245]
[ENSMUST00000218654]
[ENSMUST00000218587]
[ENSMUST00000167353]
|
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: I57T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000044627 Gene: ENSMUSG00000040415 AA Change: I57T
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 |
possibly damaging
Transcript: ENSMUST00000116229
AA Change: I57T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000111937 Gene: ENSMUSG00000040415 AA Change: I57T
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 |
possibly damaging
Transcript: ENSMUST00000130855
AA Change: I60T
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114776 Gene: ENSMUSG00000040415 AA Change: I60T
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 |
possibly damaging
Transcript: ENSMUST00000144322
AA Change: I60T
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116510 Gene: ENSMUSG00000040415 AA Change: I60T
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 |
probably benign
Transcript: ENSMUST00000137151
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219649
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222006
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219079
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218478
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219245
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218654
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218587
|
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 |
0.0897 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (49/51) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
Krt71 |
T |
C |
15: 101,643,129 (GRCm39) |
T460A |
probably benign |
Het |
Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
probably benign |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
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 |
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 |
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'- AAATGGGGCAGGTGGTTTCC -3'
(R):5'- TTATCTGTCAAATGGGGACTCC -3'
Sequencing Primer
(F):5'- TCCTCTCTGAGACGAGGAGG -3'
(R):5'- GAGTCCCTTTCACCCTGGG -3'
|
Posted On |
2015-06-12 |