Incidental Mutation 'R4232:Dtx3'
ID |
320918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx3
|
Ensembl Gene |
ENSMUSG00000040415 |
Gene Name |
deltex 3, E3 ubiquitin ligase |
Synonyms |
|
MMRRC Submission |
041051-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.369)
|
Stock # |
R4232 (G1)
|
Quality Score |
168 |
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: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
92% (58/63) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
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 |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Aven |
A |
G |
2: 112,458,113 (GRCm39) |
D167G |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,321,088 (GRCm39) |
F575L |
probably benign |
Het |
Cflar |
A |
T |
1: 58,780,152 (GRCm39) |
Q249L |
possibly damaging |
Het |
Col7a1 |
G |
A |
9: 108,801,881 (GRCm39) |
|
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,327,193 (GRCm39) |
D944G |
possibly damaging |
Het |
Dnah1 |
T |
C |
14: 31,026,873 (GRCm39) |
N717S |
probably benign |
Het |
Dnaja3 |
T |
A |
16: 4,517,735 (GRCm39) |
N322K |
possibly damaging |
Het |
Dnajb3 |
A |
G |
1: 88,132,974 (GRCm39) |
S143P |
possibly damaging |
Het |
Dvl3 |
A |
G |
16: 20,342,983 (GRCm39) |
|
probably benign |
Het |
Fkbp7 |
A |
T |
2: 76,493,661 (GRCm39) |
D177E |
possibly damaging |
Het |
Galnt7 |
T |
C |
8: 58,106,000 (GRCm39) |
I5V |
probably benign |
Het |
Garin3 |
C |
A |
11: 46,298,232 (GRCm39) |
T512K |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,871,695 (GRCm39) |
L2639Q |
probably damaging |
Het |
Hnrnpr |
T |
C |
4: 136,066,500 (GRCm39) |
M394T |
probably benign |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,444,101 (GRCm39) |
C1364* |
probably null |
Het |
Macf1 |
T |
C |
4: 123,326,185 (GRCm39) |
E5104G |
probably damaging |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Mrtfa |
T |
A |
15: 80,907,796 (GRCm39) |
K29M |
probably damaging |
Het |
Mtbp |
CATGA |
CATGAATGA |
15: 55,484,073 (GRCm39) |
|
probably null |
Het |
Nfkb1 |
A |
G |
3: 135,309,531 (GRCm39) |
V521A |
probably damaging |
Het |
Or2b7 |
T |
C |
13: 21,739,631 (GRCm39) |
D187G |
probably damaging |
Het |
Or7g32 |
G |
T |
9: 19,389,022 (GRCm39) |
L175M |
probably damaging |
Het |
P2rx6 |
T |
C |
16: 17,388,631 (GRCm39) |
L335P |
probably damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
Pgpep1l |
T |
C |
7: 67,886,827 (GRCm39) |
T161A |
probably benign |
Het |
Prss40 |
A |
G |
1: 34,599,873 (GRCm39) |
V38A |
probably benign |
Het |
Ptk2 |
C |
A |
15: 73,181,698 (GRCm39) |
R104L |
possibly damaging |
Het |
Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rtp4 |
A |
G |
16: 23,431,833 (GRCm39) |
N122D |
possibly damaging |
Het |
Samd8 |
A |
G |
14: 21,830,213 (GRCm39) |
Y213C |
probably benign |
Het |
Shcbp1 |
T |
A |
8: 4,786,372 (GRCm39) |
T577S |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,050,156 (GRCm39) |
V153A |
probably damaging |
Het |
Tmprss7 |
A |
T |
16: 45,476,936 (GRCm39) |
D775E |
probably damaging |
Het |
Tnr |
T |
C |
1: 159,713,785 (GRCm39) |
S738P |
possibly damaging |
Het |
Tsc22d4 |
T |
C |
5: 137,749,632 (GRCm39) |
|
probably null |
Het |
Ttc21a |
A |
T |
9: 119,771,684 (GRCm39) |
H161L |
probably benign |
Het |
Ubqln3 |
T |
A |
7: 103,791,010 (GRCm39) |
E360V |
probably benign |
Het |
Ugt1a10 |
C |
A |
1: 87,983,932 (GRCm39) |
D243E |
probably benign |
Het |
Vmn2r19 |
G |
A |
6: 123,306,871 (GRCm39) |
V460I |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,487,011 (GRCm39) |
Y628F |
possibly damaging |
Het |
Wnk1 |
A |
T |
6: 119,926,222 (GRCm39) |
S1588T |
possibly damaging |
Het |
Wscd2 |
A |
G |
5: 113,699,045 (GRCm39) |
D200G |
probably benign |
Het |
Zfp831 |
G |
C |
2: 174,547,447 (GRCm39) |
W1543C |
possibly damaging |
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 |
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'- AAATGGGGCAGGTGGTTTCC -3'
(R):5'- TTATCTGTCAAATGGGGACTCC -3'
Sequencing Primer
(F):5'- TCCTCTCTGAGACGAGGAGG -3'
(R):5'- GAGTCCCTTTCACCCTGGG -3'
|
Posted On |
2015-06-12 |