Incidental Mutation 'R3108:Dtx2'
| ID | 263656 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Dtx2
|
|---|
| Ensembl Gene |
ENSMUSG00000004947 |
|---|
| Gene Name | deltex 2, E3 ubiquitin ligase |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
040582-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R3108 (G1)
|
|---|
| Quality Score | 192 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 5 |
|---|
| Chromosomal Location | 135994800-136032872 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
G to A
at 136021816 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Valine to Methionine
at position 323
(V323M)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005072
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005072]
[ENSMUST00000111142]
[ENSMUST00000111144]
[ENSMUST00000111145]
[ENSMUST00000125827]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005072
AA Change: V323M
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: V323M
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
2.02e-31 |
SMART |
|
WWE
|
107 |
182 |
6.98e-26 |
SMART |
|
low complexity region
|
281 |
318 |
N/A |
INTRINSIC |
|
RING
|
408 |
468 |
2.49e-5 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111142
AA Change: V323M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: V323M
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
2.02e-31 |
SMART |
|
WWE
|
107 |
182 |
6.98e-26 |
SMART |
|
low complexity region
|
281 |
318 |
N/A |
INTRINSIC |
|
RING
|
409 |
469 |
2.49e-5 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111144
AA Change: V323M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: V323M
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
2.02e-31 |
SMART |
|
WWE
|
107 |
182 |
6.98e-26 |
SMART |
|
low complexity region
|
281 |
318 |
N/A |
INTRINSIC |
|
RING
|
363 |
423 |
2.49e-5 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111145
AA Change: V323M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: V323M
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
2.02e-31 |
SMART |
|
WWE
|
107 |
182 |
6.98e-26 |
SMART |
|
low complexity region
|
281 |
318 |
N/A |
INTRINSIC |
|
RING
|
363 |
423 |
2.49e-5 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125827
AA Change: V323M
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: V323M
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
2.02e-31 |
SMART |
|
WWE
|
107 |
182 |
6.98e-26 |
SMART |
|
low complexity region
|
281 |
318 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142041
|
|---|
| Meta Mutation Damage Score |
0.0898
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
|---|
| Validation Efficiency |
100% (32/32) |
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no detectable abnormalities in T or B cell development. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 79,323,585 |
S104L |
probably benign |
Het |
| Adcy1 |
A |
G |
11: 7,169,453 |
Y1032C |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 127,056,306 |
|
probably null |
Het |
| Ccnb1 |
C |
T |
13: 100,781,624 |
|
probably null |
Het |
| Cfap54 |
T |
C |
10: 92,994,683 |
N1197S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 95,735,749 |
V1691A |
probably damaging |
Het |
| Dclk2 |
G |
A |
3: 86,920,035 |
P46S |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,912,387 |
K1760R |
probably benign |
Het |
| Drd4 |
T |
A |
7: 141,292,282 |
V82E |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,312,989 |
I944V |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,045,173 |
|
probably null |
Het |
| Igkv11-125 |
T |
C |
6: 67,913,871 |
F58L |
possibly damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,447,328 |
S279P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,858,759 |
T1814M |
unknown |
Het |
| Nkpd1 |
G |
A |
7: 19,522,978 |
M227I |
probably damaging |
Het |
| Ntrk3 |
C |
T |
7: 78,460,515 |
V324M |
probably benign |
Het |
| Nup155 |
C |
A |
15: 8,117,306 |
T210K |
probably null |
Het |
| Olfr466 |
T |
C |
13: 65,153,061 |
V279A |
possibly damaging |
Het |
| Olfr591 |
T |
A |
7: 103,173,086 |
M184L |
probably damaging |
Het |
| Pak4 |
A |
T |
7: 28,564,344 |
Y322* |
probably null |
Het |
| Raph1 |
G |
A |
1: 60,493,386 |
A696V |
probably benign |
Het |
| Satb1 |
A |
T |
17: 51,782,782 |
Y346N |
possibly damaging |
Het |
| Serpina1a |
A |
T |
12: 103,853,841 |
I382N |
probably damaging |
Het |
| Slc34a3 |
G |
T |
2: 25,229,245 |
Q538K |
probably benign |
Het |
| Slf1 |
C |
T |
13: 77,126,721 |
|
probably benign |
Het |
| Ston1 |
G |
T |
17: 88,636,155 |
E330* |
probably null |
Het |
| Trhde |
C |
T |
10: 114,592,066 |
E442K |
probably damaging |
Het |
| Unc45a |
A |
G |
7: 80,331,546 |
|
probably benign |
Het |
| Zfp169 |
A |
G |
13: 48,489,996 |
S552P |
possibly damaging |
Het |
| Zfp229 |
T |
A |
17: 21,746,816 |
C676S |
probably damaging |
Het |
|
|---|
| Other mutations in Dtx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Dtx2
|
APN |
5 |
136029203 |
missense |
possibly damaging |
0.95 |
|
IGL01536:Dtx2
|
APN |
5 |
136010086 |
utr 5 prime |
probably benign |
|
|
IGL01584:Dtx2
|
APN |
5 |
136026566 |
missense |
possibly damaging |
0.49 |
|
IGL01782:Dtx2
|
APN |
5 |
136010127 |
nonsense |
probably null |
|
|
IGL03091:Dtx2
|
APN |
5 |
136012374 |
missense |
probably damaging |
1.00 |
|
R0499:Dtx2
|
UTSW |
5 |
136029103 |
missense |
probably damaging |
1.00 |
|
R0580:Dtx2
|
UTSW |
5 |
136032326 |
missense |
probably damaging |
1.00 |
|
R1988:Dtx2
|
UTSW |
5 |
136032293 |
nonsense |
probably null |
|
|
R2062:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2063:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2064:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2065:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2068:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2108:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2110:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2111:Dtx2
|
UTSW |
5 |
136030577 |
missense |
probably damaging |
1.00 |
|
R2130:Dtx2
|
UTSW |
5 |
136012040 |
missense |
probably damaging |
0.96 |
|
R2146:Dtx2
|
UTSW |
5 |
136030610 |
missense |
probably benign |
0.21 |
|
R3421:Dtx2
|
UTSW |
5 |
136012478 |
missense |
probably damaging |
1.00 |
|
R4467:Dtx2
|
UTSW |
5 |
136012076 |
missense |
probably damaging |
1.00 |
|
R4741:Dtx2
|
UTSW |
5 |
136026517 |
missense |
probably benign |
0.00 |
|
R5083:Dtx2
|
UTSW |
5 |
136012190 |
missense |
probably damaging |
1.00 |
|
R5318:Dtx2
|
UTSW |
5 |
136012100 |
missense |
possibly damaging |
0.92 |
|
R5705:Dtx2
|
UTSW |
5 |
136010295 |
missense |
probably damaging |
1.00 |
|
R5964:Dtx2
|
UTSW |
5 |
136023699 |
missense |
probably benign |
0.00 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- CCACGTGAAACCAGGTTGAAC -3'
(R):5'- GGTTACCGATCACCCCAAAG -3'
Sequencing Primer
(F):5'- GTTGAACACCTTGTCTTCAGAG -3'
(R):5'- GAGGCACTGATCCCCAAG -3'
|
|---|
| Posted On | 2015-02-05 |
|---|
