Incidental Mutation 'R1422:Dtx3'
| ID |
161133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx3
|
| Ensembl Gene |
ENSMUSG00000040415 |
| Gene Name |
deltex 3, E3 ubiquitin ligase |
| Synonyms |
|
| MMRRC Submission |
039478-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.369)
|
| Stock # |
R1422 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127026247-127031597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127027158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 339
(I339F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019611]
[ENSMUST00000038217]
[ENSMUST00000116229]
[ENSMUST00000130855]
[ENSMUST00000137151]
[ENSMUST00000144322]
[ENSMUST00000167353]
[ENSMUST00000218587]
[ENSMUST00000222006]
[ENSMUST00000219245]
[ENSMUST00000218654]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000116229
AA Change: I339F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111937
Gene: ENSMUSG00000040415
AA Change: I339F
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000218478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218864
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219245
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219079
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
| Validation Efficiency |
100% (51/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Becn1 |
T |
C |
11: 101,185,952 (GRCm39) |
D98G |
possibly damaging |
Het |
| Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
| Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
| Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
| Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
| Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
| Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
| Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
| Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
| Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
| Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
| Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
| Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
| Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
| Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCGTCTGTGATACCCTTGGCTC -3'
(R):5'- AAAGGCATTTGACCAGCGCCTC -3'
Sequencing Primer
(F):5'- CTTGCACCCTAGTCAGGTAG -3'
(R):5'- GACCAGCGCCTCACCTTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation