Incidental Mutation 'IGL03091:Dtx2'
| ID |
418376 |
| 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 # |
IGL03091
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
136023654-136061726 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136041228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 211
(S211L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005072]
[ENSMUST00000111142]
[ENSMUST00000111144]
[ENSMUST00000111145]
[ENSMUST00000125827]
[ENSMUST00000130345]
[ENSMUST00000199239]
|
| AlphaFold |
Q8R3P2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005072
AA Change: S211L
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000005072
Gene: ENSMUSG00000004947
AA Change: S211L
| 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 damaging
Transcript: ENSMUST00000111142
AA Change: S211L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106772
Gene: ENSMUSG00000004947
AA Change: S211L
| 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 damaging
Transcript: ENSMUST00000111144
AA Change: S211L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106774
Gene: ENSMUSG00000004947
AA Change: S211L
| 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 damaging
Transcript: ENSMUST00000111145
AA Change: S211L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106775
Gene: ENSMUSG00000004947
AA Change: S211L
| 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 damaging
Transcript: ENSMUST00000125827
AA Change: S211L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000115122
Gene: ENSMUSG00000004947
AA Change: S211L
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago1 |
A |
T |
4: 126,352,982 (GRCm39) |
Y314N |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,219 (GRCm39) |
T78A |
possibly damaging |
Het |
| Arhgap33 |
G |
A |
7: 30,227,718 (GRCm39) |
P494S |
probably damaging |
Het |
| Babam2 |
T |
A |
5: 31,943,022 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,691,386 (GRCm39) |
V174A |
probably damaging |
Het |
| Chd1l |
G |
A |
3: 97,470,863 (GRCm39) |
R811C |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,016,897 (GRCm39) |
H598Q |
probably benign |
Het |
| Duox2 |
T |
G |
2: 122,119,955 (GRCm39) |
M852L |
probably benign |
Het |
| Fmc1 |
G |
T |
6: 38,516,170 (GRCm39) |
S72I |
probably damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,951 (GRCm39) |
C302R |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,786,615 (GRCm39) |
T184A |
possibly damaging |
Het |
| Gsdma2 |
C |
T |
11: 98,542,828 (GRCm39) |
T29I |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,721,307 (GRCm39) |
|
probably null |
Het |
| Lipe |
A |
G |
7: 25,080,180 (GRCm39) |
L926P |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,394,993 (GRCm39) |
I2511F |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Nbea |
A |
G |
3: 55,992,725 (GRCm39) |
S294P |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,161,324 (GRCm39) |
H2156L |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,885,951 (GRCm39) |
N335K |
probably damaging |
Het |
| Nox3 |
G |
T |
17: 3,716,119 (GRCm39) |
Q429K |
probably benign |
Het |
| Odad4 |
T |
A |
11: 100,441,076 (GRCm39) |
Y102* |
probably null |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,564 (GRCm39) |
R1671G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,073,503 (GRCm39) |
T504A |
possibly damaging |
Het |
| Pou5f1 |
G |
T |
17: 35,820,939 (GRCm39) |
R127L |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,523,174 (GRCm39) |
|
probably benign |
Het |
| Rassf8 |
T |
A |
6: 145,761,536 (GRCm39) |
N287K |
probably benign |
Het |
| Rdh16 |
T |
C |
10: 127,649,502 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,782,911 (GRCm39) |
A1901V |
possibly damaging |
Het |
| Scnn1g |
A |
G |
7: 121,345,906 (GRCm39) |
Y343C |
probably damaging |
Het |
| Sema5a |
A |
G |
15: 32,538,880 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,034,791 (GRCm39) |
V310M |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,646,222 (GRCm39) |
I477F |
possibly damaging |
Het |
| Terb1 |
A |
T |
8: 105,195,786 (GRCm39) |
H548Q |
probably benign |
Het |
| Tsks |
G |
A |
7: 44,607,319 (GRCm39) |
M547I |
possibly damaging |
Het |
| Tuba8 |
G |
A |
6: 121,197,403 (GRCm39) |
E22K |
probably damaging |
Het |
| Wee2 |
T |
C |
6: 40,438,968 (GRCm39) |
F364L |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,724 (GRCm39) |
Y608H |
probably damaging |
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 |
|
IGL01536:Dtx2
|
APN |
5 |
136,038,940 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01584:Dtx2
|
APN |
5 |
136,055,420 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01782:Dtx2
|
APN |
5 |
136,038,981 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation