Incidental Mutation 'R5083:Dtx2'
ID |
387244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx2
|
Ensembl Gene |
ENSMUSG00000004947 |
Gene Name |
deltex 2, E3 ubiquitin ligase |
Synonyms |
2610524D08Rik |
MMRRC Submission |
042672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
136023654-136061726 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 136041044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 150
(Y150H)
|
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000005072 Gene: ENSMUSG00000004947 AA Change: Y150H
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106772 Gene: ENSMUSG00000004947 AA Change: Y150H
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106774 Gene: ENSMUSG00000004947 AA Change: Y150H
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000106775 Gene: ENSMUSG00000004947 AA Change: Y150H
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115122 Gene: ENSMUSG00000004947 AA Change: Y150H
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: Y150H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142472 Gene: ENSMUSG00000004947 AA Change: Y150H
Domain | Start | End | E-Value | Type |
WWE
|
17 |
105 |
8.4e-34 |
SMART |
WWE
|
107 |
151 |
3.9e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
C |
T |
17: 48,473,558 (GRCm39) |
V120M |
possibly damaging |
Het |
Abca6 |
T |
C |
11: 110,109,793 (GRCm39) |
D646G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,364,293 (GRCm39) |
T554A |
possibly damaging |
Het |
Atp2a3 |
G |
T |
11: 72,873,652 (GRCm39) |
V824L |
probably null |
Het |
Bet1 |
T |
C |
6: 4,077,895 (GRCm39) |
I115V |
possibly damaging |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cfap65 |
A |
G |
1: 74,945,600 (GRCm39) |
S1373P |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,711,002 (GRCm39) |
L353P |
probably damaging |
Het |
Chil3 |
C |
A |
3: 106,071,405 (GRCm39) |
|
probably null |
Het |
Comp |
C |
T |
8: 70,833,950 (GRCm39) |
T655M |
probably damaging |
Het |
Dctd |
T |
C |
8: 48,564,751 (GRCm39) |
Y18H |
probably damaging |
Het |
Ddx39b |
G |
A |
17: 35,472,005 (GRCm39) |
G348D |
possibly damaging |
Het |
Dhx36 |
A |
T |
3: 62,379,420 (GRCm39) |
S889R |
probably benign |
Het |
Epx |
A |
G |
11: 87,763,506 (GRCm39) |
F238S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,097,512 (GRCm39) |
T154A |
probably benign |
Het |
Esco1 |
A |
G |
18: 10,594,734 (GRCm39) |
I184T |
probably benign |
Het |
Esf1 |
G |
T |
2: 139,998,991 (GRCm39) |
A495E |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,000,499 (GRCm39) |
Y429C |
possibly damaging |
Het |
Fcho1 |
C |
A |
8: 72,169,820 (GRCm39) |
R101L |
probably benign |
Het |
Foxn4 |
T |
A |
5: 114,394,988 (GRCm39) |
D313V |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,748,798 (GRCm39) |
M1T |
probably null |
Het |
Gphn |
T |
A |
12: 78,670,063 (GRCm39) |
|
probably null |
Het |
Grid2 |
C |
T |
6: 64,297,136 (GRCm39) |
Q500* |
probably null |
Het |
Igsf10 |
A |
G |
3: 59,233,694 (GRCm39) |
S1680P |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,806,538 (GRCm39) |
M155T |
possibly damaging |
Het |
Invs |
A |
T |
4: 48,396,307 (GRCm39) |
M327L |
possibly damaging |
Het |
Kdm3a |
T |
C |
6: 71,598,346 (GRCm39) |
E180G |
probably damaging |
Het |
Mgat3 |
G |
A |
15: 80,095,499 (GRCm39) |
V109M |
possibly damaging |
Het |
Mrgprb3 |
A |
G |
7: 48,292,762 (GRCm39) |
V263A |
probably benign |
Het |
Mroh7 |
A |
T |
4: 106,547,515 (GRCm39) |
V1109D |
probably benign |
Het |
Myo15b |
A |
T |
11: 115,757,482 (GRCm39) |
T1111S |
probably benign |
Het |
Myo19 |
G |
T |
11: 84,794,037 (GRCm39) |
A654S |
possibly damaging |
Het |
Mypn |
A |
T |
10: 62,954,307 (GRCm39) |
V1224D |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,560,706 (GRCm39) |
|
probably null |
Het |
Or2a52 |
G |
T |
6: 43,144,273 (GRCm39) |
A94S |
probably benign |
Het |
Or52e7 |
A |
T |
7: 104,684,618 (GRCm39) |
Y71F |
probably damaging |
Het |
Or8c10 |
G |
A |
9: 38,279,358 (GRCm39) |
C172Y |
possibly damaging |
Het |
Pdcd2 |
A |
G |
17: 15,743,084 (GRCm39) |
I247T |
possibly damaging |
Het |
Pik3c2a |
A |
T |
7: 115,941,636 (GRCm39) |
N1571K |
probably damaging |
Het |
Plagl2 |
T |
C |
2: 153,077,964 (GRCm39) |
T6A |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,040,037 (GRCm39) |
Y318F |
possibly damaging |
Het |
Sdccag8 |
C |
A |
1: 176,652,458 (GRCm39) |
H70N |
probably damaging |
Het |
Skint1 |
A |
G |
4: 111,886,630 (GRCm39) |
R359G |
probably benign |
Het |
Slc44a5 |
A |
T |
3: 153,953,424 (GRCm39) |
I269L |
probably benign |
Het |
Slfn10-ps |
T |
A |
11: 82,921,341 (GRCm39) |
|
noncoding transcript |
Het |
Suclg1 |
C |
A |
6: 73,240,963 (GRCm39) |
T164K |
probably benign |
Het |
Tgds |
C |
A |
14: 118,353,491 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,643,877 (GRCm39) |
D13117G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,701,081 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,483,671 (GRCm39) |
I843N |
possibly damaging |
Het |
Vmn2r52 |
A |
T |
7: 9,893,392 (GRCm39) |
Y582* |
probably null |
Het |
Vps33b |
G |
T |
7: 79,924,389 (GRCm39) |
K65N |
probably damaging |
Het |
Zfp1010 |
A |
G |
2: 176,957,364 (GRCm39) |
F45L |
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 |
|
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 |
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'- CTTAAAGTGTTAGCGTGTGGAAC -3'
(R):5'- CTACCATGGAGGCACTGTTG -3'
Sequencing Primer
(F):5'- AACAGCAGGAGGGTTCTCATTTATG -3'
(R):5'- CTGTTGGCAAAAGCAGATAAGTCCC -3'
|
Posted On |
2016-06-06 |