Incidental Mutation 'R4467:Dtx2'
ID |
329232 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx2
|
Ensembl Gene |
ENSMUSG00000004947 |
Gene Name |
deltex 2, E3 ubiquitin ligase |
Synonyms |
2610524D08Rik |
MMRRC Submission |
041724-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4467 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
136023654-136061726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 136040930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 112
(W112R)
|
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 damaging
Transcript: ENSMUST00000005072
AA Change: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005072 Gene: ENSMUSG00000004947 AA Change: W112R
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: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106772 Gene: ENSMUSG00000004947 AA Change: W112R
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: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106774 Gene: ENSMUSG00000004947 AA Change: W112R
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: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106775 Gene: ENSMUSG00000004947 AA Change: W112R
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: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115122 Gene: ENSMUSG00000004947 AA Change: W112R
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 damaging
Transcript: ENSMUST00000199239
AA Change: W112R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142472 Gene: ENSMUSG00000004947 AA Change: W112R
Domain | Start | End | E-Value | Type |
WWE
|
17 |
105 |
8.4e-34 |
SMART |
WWE
|
107 |
151 |
3.9e-4 |
SMART |
|
Meta Mutation Damage Score |
0.9621 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (52/53) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Atg4a-ps |
A |
G |
3: 103,553,171 (GRCm39) |
Y57H |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bms1 |
G |
A |
6: 118,360,808 (GRCm39) |
T1220I |
probably damaging |
Het |
Brat1 |
T |
C |
5: 140,690,826 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
A |
2: 132,136,366 (GRCm39) |
Y39* |
probably null |
Het |
Chrnd |
T |
A |
1: 87,125,099 (GRCm39) |
L384Q |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,282,981 (GRCm39) |
Y155* |
probably null |
Het |
Crlf1 |
G |
A |
8: 70,953,606 (GRCm39) |
W260* |
probably null |
Het |
Cux1 |
C |
G |
5: 136,341,576 (GRCm39) |
E605D |
probably damaging |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Dmtf1 |
T |
C |
5: 9,186,085 (GRCm39) |
N167S |
probably damaging |
Het |
Dnaaf9 |
A |
G |
2: 130,609,567 (GRCm39) |
I372T |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,128,944 (GRCm39) |
|
probably null |
Het |
Elf3 |
A |
G |
1: 135,184,582 (GRCm39) |
I138T |
probably damaging |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Fdps |
A |
T |
3: 89,008,093 (GRCm39) |
D8E |
possibly damaging |
Het |
Fzd10 |
C |
A |
5: 128,678,340 (GRCm39) |
T20K |
probably benign |
Het |
Gm9978 |
T |
A |
10: 78,322,750 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Has1 |
C |
T |
17: 18,064,257 (GRCm39) |
V461M |
probably benign |
Het |
Hdac3 |
C |
T |
18: 38,085,566 (GRCm39) |
G80D |
probably benign |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lamp5 |
A |
G |
2: 135,900,940 (GRCm39) |
I47V |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,272,933 (GRCm39) |
I84T |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,885,027 (GRCm39) |
D122G |
probably benign |
Het |
Piezo1 |
T |
C |
8: 123,213,135 (GRCm39) |
E1875G |
probably benign |
Het |
Pih1d1 |
A |
G |
7: 44,807,921 (GRCm39) |
M132V |
possibly damaging |
Het |
Pon2 |
C |
T |
6: 5,267,021 (GRCm39) |
A241T |
probably benign |
Het |
Prkce |
A |
G |
17: 86,927,339 (GRCm39) |
I538V |
possibly damaging |
Het |
Rab36 |
C |
T |
10: 74,887,875 (GRCm39) |
R249* |
probably null |
Het |
Rps6kl1 |
C |
T |
12: 85,194,582 (GRCm39) |
A110T |
probably damaging |
Het |
Rsad1 |
T |
C |
11: 94,435,356 (GRCm39) |
T244A |
probably benign |
Het |
Slc22a7 |
T |
C |
17: 46,743,436 (GRCm39) |
I532V |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,247,731 (GRCm39) |
V377A |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Het |
Stat6 |
T |
G |
10: 127,487,097 (GRCm39) |
I201M |
probably damaging |
Het |
Stim2 |
T |
C |
5: 54,273,536 (GRCm39) |
|
probably null |
Het |
Tbc1d9 |
A |
G |
8: 83,937,107 (GRCm39) |
Y63C |
probably damaging |
Het |
Tctn2 |
T |
C |
5: 124,758,252 (GRCm39) |
|
noncoding transcript |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ubr5 |
T |
A |
15: 38,004,580 (GRCm39) |
T1282S |
probably damaging |
Het |
Ufl1 |
A |
T |
4: 25,254,806 (GRCm39) |
I550N |
probably damaging |
Het |
Uty |
A |
G |
Y: 1,158,372 (GRCm39) |
V557A |
possibly damaging |
Het |
Vmn1r54 |
T |
C |
6: 90,246,253 (GRCm39) |
S56P |
probably damaging |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTGTCACATGGTCACACAC -3'
(R):5'- AGTCACTGGGTAAACTGGCC -3'
Sequencing Primer
(F):5'- GTGTCACATGGTCACACACACATAC -3'
(R):5'- TGGGTAAACTGGCCCCACTTG -3'
|
Posted On |
2015-07-21 |