Incidental Mutation 'R0560:Dtx3l'
ID |
45845 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx3l
|
Ensembl Gene |
ENSMUSG00000049502 |
Gene Name |
deltex 3-like, E3 ubiquitin ligase |
Synonyms |
|
MMRRC Submission |
038752-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.436)
|
Stock # |
R0560 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
35746885-35759397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35753305 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 434
(S434P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081933]
[ENSMUST00000114885]
|
AlphaFold |
Q3UIR3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081933
AA Change: S434P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080601 Gene: ENSMUSG00000049502 AA Change: S434P
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114885
AA Change: S434P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110535 Gene: ENSMUSG00000049502 AA Change: S434P
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Meta Mutation Damage Score |
0.1652 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (26/26) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,055,101 (GRCm39) |
Y1334H |
probably damaging |
Het |
Arsb |
A |
G |
13: 93,926,706 (GRCm39) |
T159A |
possibly damaging |
Het |
Asb18 |
A |
C |
1: 89,942,250 (GRCm39) |
V17G |
probably damaging |
Het |
Bicd1 |
A |
G |
6: 149,413,460 (GRCm39) |
K284E |
probably benign |
Het |
Bspry |
A |
G |
4: 62,404,686 (GRCm39) |
R161G |
probably damaging |
Het |
Ccdc138 |
A |
G |
10: 58,411,539 (GRCm39) |
T636A |
probably damaging |
Het |
Cubn |
A |
T |
2: 13,433,491 (GRCm39) |
W1140R |
probably damaging |
Het |
Cyp2t4 |
A |
G |
7: 26,857,936 (GRCm39) |
T479A |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,387,551 (GRCm39) |
L230Q |
probably damaging |
Het |
Duox2 |
A |
G |
2: 122,122,035 (GRCm39) |
V611A |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,581,892 (GRCm39) |
|
probably null |
Het |
Fam161b |
C |
T |
12: 84,404,492 (GRCm39) |
D63N |
probably damaging |
Het |
Gm5422 |
G |
A |
10: 31,125,240 (GRCm39) |
|
noncoding transcript |
Het |
Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
Krtcap2 |
T |
C |
3: 89,156,449 (GRCm39) |
|
probably null |
Het |
Mtrf1 |
T |
A |
14: 79,644,290 (GRCm39) |
D199E |
probably damaging |
Het |
Myorg |
G |
A |
4: 41,498,167 (GRCm39) |
R488W |
probably damaging |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Ncf2 |
T |
A |
1: 152,697,273 (GRCm39) |
Y47N |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,726 (GRCm39) |
|
probably benign |
Het |
Siglec1 |
G |
T |
2: 130,912,266 (GRCm39) |
T1692N |
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,139,092 (GRCm39) |
N284S |
probably benign |
Het |
Slfn3 |
T |
C |
11: 83,103,978 (GRCm39) |
F283S |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,154 (GRCm39) |
F2297S |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,058,922 (GRCm39) |
|
probably null |
Het |
Vps13d |
T |
C |
4: 144,780,760 (GRCm39) |
E3957G |
probably damaging |
Het |
|
Other mutations in Dtx3l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01814:Dtx3l
|
APN |
16 |
35,751,872 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02255:Dtx3l
|
APN |
16 |
35,753,706 (GRCm39) |
missense |
probably benign |
0.10 |
R1123:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R1127:Dtx3l
|
UTSW |
16 |
35,759,127 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Dtx3l
|
UTSW |
16 |
35,753,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R1690:Dtx3l
|
UTSW |
16 |
35,753,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Dtx3l
|
UTSW |
16 |
35,754,059 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2014:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
R2015:Dtx3l
|
UTSW |
16 |
35,756,797 (GRCm39) |
missense |
probably benign |
0.08 |
R2255:Dtx3l
|
UTSW |
16 |
35,756,949 (GRCm39) |
missense |
probably benign |
0.01 |
R3023:Dtx3l
|
UTSW |
16 |
35,752,806 (GRCm39) |
missense |
probably benign |
0.01 |
R3176:Dtx3l
|
UTSW |
16 |
35,752,543 (GRCm39) |
missense |
probably benign |
0.29 |
R5224:Dtx3l
|
UTSW |
16 |
35,759,163 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5233:Dtx3l
|
UTSW |
16 |
35,753,608 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5375:Dtx3l
|
UTSW |
16 |
35,753,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Dtx3l
|
UTSW |
16 |
35,752,603 (GRCm39) |
missense |
probably benign |
|
R6821:Dtx3l
|
UTSW |
16 |
35,753,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6994:Dtx3l
|
UTSW |
16 |
35,751,742 (GRCm39) |
critical splice donor site |
probably null |
|
R7242:Dtx3l
|
UTSW |
16 |
35,753,771 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7270:Dtx3l
|
UTSW |
16 |
35,754,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R7837:Dtx3l
|
UTSW |
16 |
35,751,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7866:Dtx3l
|
UTSW |
16 |
35,759,120 (GRCm39) |
missense |
probably benign |
0.00 |
R8053:Dtx3l
|
UTSW |
16 |
35,759,322 (GRCm39) |
unclassified |
probably benign |
|
R8337:Dtx3l
|
UTSW |
16 |
35,754,073 (GRCm39) |
missense |
probably benign |
0.00 |
R9764:Dtx3l
|
UTSW |
16 |
35,753,277 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Dtx3l
|
UTSW |
16 |
35,753,553 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Dtx3l
|
UTSW |
16 |
35,752,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTAAGGCTGCATTCTCCTGCTG -3'
(R):5'- AATAACCGCATCTGGGTACACGAC -3'
Sequencing Primer
(F):5'- TGGAGACATACTGCATTGCC -3'
(R):5'- TACACGACGGGCATCGAG -3'
|
Posted On |
2013-06-11 |