Incidental Mutation 'R1123:Dtx3l'
ID |
95891 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx3l
|
Ensembl Gene |
ENSMUSG00000049502 |
Gene Name |
deltex 3-like, E3 ubiquitin ligase |
Synonyms |
|
MMRRC Submission |
039196-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
R1123 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35746885-35759397 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35753638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 323
(A323T)
|
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: A323T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000080601 Gene: ENSMUSG00000049502 AA Change: A323T
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: A323T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110535 Gene: ENSMUSG00000049502 AA Change: A323T
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,154,906 (GRCm39) |
M987K |
probably benign |
Het |
Akap3 |
A |
G |
6: 126,842,929 (GRCm39) |
D516G |
probably benign |
Het |
Arhgap12 |
A |
C |
18: 6,031,822 (GRCm39) |
V573G |
probably damaging |
Het |
Ccdc122 |
T |
C |
14: 77,305,351 (GRCm39) |
S2P |
probably damaging |
Het |
Cel |
T |
C |
2: 28,446,752 (GRCm39) |
Y473C |
probably damaging |
Het |
Cfap157 |
C |
T |
2: 32,667,935 (GRCm39) |
V469M |
possibly damaging |
Het |
Cyp2c40 |
C |
G |
19: 39,801,121 (GRCm39) |
V45L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,821,762 (GRCm39) |
T706A |
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,352,427 (GRCm39) |
V728E |
probably benign |
Het |
Etnk2 |
A |
G |
1: 133,301,010 (GRCm39) |
D259G |
probably benign |
Het |
Evi5 |
T |
G |
5: 107,968,444 (GRCm39) |
I184L |
probably benign |
Het |
Fem1a |
G |
C |
17: 56,564,791 (GRCm39) |
D295H |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,424,799 (GRCm39) |
F83S |
probably damaging |
Het |
Hephl1 |
T |
C |
9: 14,991,436 (GRCm39) |
T601A |
probably benign |
Het |
Isoc1 |
T |
C |
18: 58,804,695 (GRCm39) |
V201A |
probably benign |
Het |
Kcnt2 |
A |
T |
1: 140,501,346 (GRCm39) |
D830V |
probably damaging |
Het |
Lrfn1 |
G |
T |
7: 28,166,544 (GRCm39) |
C646F |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,299,428 (GRCm39) |
Y1255H |
probably benign |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,212 (GRCm39) |
S115P |
possibly damaging |
Het |
Or5k16 |
A |
T |
16: 58,736,697 (GRCm39) |
Y102* |
probably null |
Het |
Or9m1 |
A |
C |
2: 87,733,248 (GRCm39) |
I257M |
probably damaging |
Het |
Pik3r4 |
G |
A |
9: 105,540,328 (GRCm39) |
A739T |
probably benign |
Het |
Prpf8 |
T |
C |
11: 75,386,111 (GRCm39) |
V920A |
probably damaging |
Het |
Slc16a7 |
A |
C |
10: 125,067,016 (GRCm39) |
S208A |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Slc35g2 |
A |
T |
9: 100,435,047 (GRCm39) |
I208N |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,233,210 (GRCm39) |
I51V |
probably benign |
Het |
Thoc2l |
T |
C |
5: 104,666,336 (GRCm39) |
L286P |
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 |
R0560:Dtx3l
|
UTSW |
16 |
35,753,305 (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'- TGTTGAATCGACCTCGATGCCC -3'
(R):5'- TGTCTGCCCTCACATCATCAAAAGC -3'
Sequencing Primer
(F):5'- CGTCGTGTACCCAGATGC -3'
(R):5'- ATCACTTCTTGAGTGAGCAGC -3'
|
Posted On |
2014-01-05 |