Incidental Mutation 'IGL01536:Dtx2'
| ID |
89980 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dtx2
|
| Ensembl Gene |
ENSMUSG00000004947 |
| Gene Name |
deltex 2, E3 ubiquitin ligase |
| Synonyms |
2610524D08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01536
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
136023654-136061726 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 136038940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005072]
[ENSMUST00000111142]
[ENSMUST00000111144]
[ENSMUST00000111145]
[ENSMUST00000125827]
[ENSMUST00000130345]
[ENSMUST00000199239]
|
| AlphaFold |
Q8R3P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005072
|
| SMART Domains |
Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
| 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
|
| SMART Domains |
Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
| 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 |
probably benign
Transcript: ENSMUST00000130345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199239
|
| SMART Domains |
Protein: ENSMUSP00000142472
Gene: ENSMUSG00000004947
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
17 |
105 |
8.4e-34 |
SMART |
|
WWE
|
107 |
151 |
3.9e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp5f1a |
T |
C |
18: 77,868,012 (GRCm39) |
|
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,505 (GRCm39) |
I81V |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,422,237 (GRCm39) |
D560G |
probably null |
Het |
| Dis3 |
A |
G |
14: 99,316,859 (GRCm39) |
Y826H |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,410,494 (GRCm39) |
K361E |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,542 (GRCm39) |
K294* |
probably null |
Het |
| Erbb4 |
T |
A |
1: 68,329,441 (GRCm39) |
Y636F |
probably benign |
Het |
| Fads1 |
C |
A |
19: 10,171,394 (GRCm39) |
Q342K |
probably benign |
Het |
| Fntb |
A |
T |
12: 76,966,904 (GRCm39) |
T447S |
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,857,868 (GRCm39) |
|
probably benign |
Het |
| Kcnh2 |
A |
G |
5: 24,531,522 (GRCm39) |
I463T |
probably damaging |
Het |
| Kif13a |
G |
T |
13: 46,905,765 (GRCm39) |
T726K |
probably damaging |
Het |
| Lcmt1 |
T |
C |
7: 123,021,966 (GRCm39) |
S275P |
possibly damaging |
Het |
| Lmnb1 |
T |
C |
18: 56,873,868 (GRCm39) |
S425P |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,000,895 (GRCm39) |
I2224V |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,410 (GRCm39) |
T173S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,584,340 (GRCm39) |
Y2590H |
possibly damaging |
Het |
| Myo18a |
C |
T |
11: 77,711,677 (GRCm39) |
P676L |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,944 (GRCm39) |
S267P |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,046 (GRCm39) |
M426T |
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,737,123 (GRCm39) |
V891A |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,475 (GRCm39) |
N956S |
probably benign |
Het |
| Ppil3 |
T |
C |
1: 58,483,750 (GRCm39) |
M1V |
probably null |
Het |
| Rad1 |
T |
A |
15: 10,493,286 (GRCm39) |
S238T |
possibly damaging |
Het |
| Shc3 |
A |
C |
13: 51,670,595 (GRCm39) |
S51A |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,409,992 (GRCm39) |
|
probably null |
Het |
| Smg5 |
A |
G |
3: 88,256,552 (GRCm39) |
K273E |
possibly damaging |
Het |
| Sntg1 |
C |
T |
1: 8,653,424 (GRCm39) |
|
probably null |
Het |
| Sstr4 |
T |
C |
2: 148,237,800 (GRCm39) |
L137P |
probably damaging |
Het |
| Taar8b |
C |
T |
10: 23,967,493 (GRCm39) |
V234I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,987,621 (GRCm39) |
Y860C |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,527,323 (GRCm39) |
S399R |
probably damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,807 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,188,180 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,562,695 (GRCm39) |
|
probably null |
Het |
| Usp43 |
T |
C |
11: 67,746,764 (GRCm39) |
D981G |
probably benign |
Het |
| Vmn2r108 |
A |
T |
17: 20,683,543 (GRCm39) |
C554S |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,136 (GRCm39) |
Y464N |
probably damaging |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,847 (GRCm39) |
K575E |
probably damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,771,610 (GRCm39) |
C697Y |
probably damaging |
Het |
| Zcchc8 |
A |
C |
5: 123,858,782 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dtx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Dtx2
|
APN |
5 |
136,058,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01584:Dtx2
|
APN |
5 |
136,055,420 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01782:Dtx2
|
APN |
5 |
136,038,981 (GRCm39) |
nonsense |
probably null |
|
|
IGL03091:Dtx2
|
APN |
5 |
136,041,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Dtx2
|
UTSW |
5 |
136,057,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Dtx2
|
UTSW |
5 |
136,061,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1988:Dtx2
|
UTSW |
5 |
136,061,147 (GRCm39) |
nonsense |
probably null |
|
|
R2062:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2108:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Dtx2
|
UTSW |
5 |
136,059,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Dtx2
|
UTSW |
5 |
136,040,894 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2146:Dtx2
|
UTSW |
5 |
136,059,464 (GRCm39) |
missense |
probably benign |
0.21 |
|
R3108:Dtx2
|
UTSW |
5 |
136,050,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3421:Dtx2
|
UTSW |
5 |
136,041,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:Dtx2
|
UTSW |
5 |
136,040,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4741:Dtx2
|
UTSW |
5 |
136,055,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5083:Dtx2
|
UTSW |
5 |
136,041,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5318:Dtx2
|
UTSW |
5 |
136,040,954 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5705:Dtx2
|
UTSW |
5 |
136,039,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Dtx2
|
UTSW |
5 |
136,052,553 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation