Incidental Mutation 'R5224:Dtx3l'
ID |
402521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx3l
|
Ensembl Gene |
ENSMUSG00000049502 |
Gene Name |
deltex 3-like, E3 ubiquitin ligase |
Synonyms |
|
MMRRC Submission |
042797-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.388)
|
Stock # |
R5224 (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 35759163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 29
(Y29H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110535
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023622]
[ENSMUST00000081933]
[ENSMUST00000114877]
[ENSMUST00000114878]
[ENSMUST00000114885]
[ENSMUST00000122870]
|
AlphaFold |
Q3UIR3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023622
|
SMART Domains |
Protein: ENSMUSP00000023622 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
Pfam:Macro
|
74 |
182 |
1.5e-16 |
PFAM |
PDB:3HKV|B
|
386 |
559 |
3e-9 |
PDB |
SCOP:d1a26_2
|
403 |
521 |
1e-20 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000081933
AA Change: Y29H
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080601 Gene: ENSMUSG00000049502 AA Change: Y29H
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000114877
|
SMART Domains |
Protein: ENSMUSP00000110527 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
A1pp
|
121 |
257 |
6.75e-33 |
SMART |
A1pp
|
325 |
451 |
9.37e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114878
|
SMART Domains |
Protein: ENSMUSP00000110528 Gene: ENSMUSG00000022906
Domain | Start | End | E-Value | Type |
A1pp
|
85 |
221 |
6.75e-33 |
SMART |
A1pp
|
289 |
415 |
9.37e-9 |
SMART |
PDB:3HKV|B
|
619 |
792 |
4e-8 |
PDB |
SCOP:d1a26_2
|
636 |
754 |
1e-20 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114885
AA Change: Y29H
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000110535 Gene: ENSMUSG00000049502 AA Change: Y29H
Domain | Start | End | E-Value | Type |
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
RING
|
569 |
607 |
5.82e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122870
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128878
|
Meta Mutation Damage Score |
0.1755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (58/59) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
CGTGACCTTTCTGGT |
CGT |
10: 85,481,386 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
Ganab |
T |
A |
19: 8,887,955 (GRCm39) |
D396E |
probably benign |
Het |
Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
Nlrc5 |
G |
T |
8: 95,220,944 (GRCm39) |
A1128S |
probably benign |
Het |
Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
Slc22a2 |
A |
G |
17: 12,805,719 (GRCm39) |
N157D |
probably damaging |
Het |
Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
Washc2 |
T |
G |
6: 116,185,965 (GRCm39) |
*58G |
probably null |
Het |
Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
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 |
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 |
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'- ATGCAGGGATCGGTTTGGAAAC -3'
(R):5'- ATGGCTCTGAGAGATGGCAG -3'
Sequencing Primer
(F):5'- ACCTGCTGGTTCTACCCTTG -3'
(R):5'- GAAACTGAAACTTTGCCTCTCGGG -3'
|
Posted On |
2016-07-22 |