Incidental Mutation 'G5030:Dtx4'
| ID |
483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx4
|
| Ensembl Gene |
ENSMUSG00000039982 |
| Gene Name |
deltex 4, E3 ubiquitin ligase |
| Synonyms |
RNF155 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
G5030 (G3)
of strain
560
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12443702-12478818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12446943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 583
(L583P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
[ENSMUST00000081035]
|
| AlphaFold |
Q6PDK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045521
AA Change: L583P
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: L583P
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
5 |
86 |
1.38e-38 |
SMART |
|
WWE
|
88 |
163 |
6.72e-28 |
SMART |
|
low complexity region
|
175 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
386 |
N/A |
INTRINSIC |
|
RING
|
406 |
464 |
2.2e-6 |
SMART |
|
Blast:RING
|
510 |
532 |
3e-7 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081035
|
| SMART Domains |
Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
MACPF
|
151 |
350 |
2.13e-58 |
SMART |
|
transmembrane domain
|
661 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
698 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3772 |
| Coding Region Coverage |
|
| Het Detection Efficiency |
35.6% |
| Validation Efficiency |
87% (206/237) |
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,961,165 (GRCm39) |
I585F |
probably damaging |
Het |
| Adam18 |
C |
G |
8: 25,141,872 (GRCm39) |
L232F |
probably benign |
Homo |
| Atp13a4 |
A |
G |
16: 29,274,306 (GRCm39) |
I385T |
probably damaging |
Homo |
| Ccdc17 |
T |
A |
4: 116,455,699 (GRCm39) |
S277T |
probably benign |
Het |
| Ccng1 |
A |
G |
11: 40,644,629 (GRCm39) |
|
probably benign |
Het |
| Ces1f |
T |
C |
8: 94,000,847 (GRCm39) |
D99G |
probably benign |
Het |
| Clec16a |
G |
A |
16: 10,389,425 (GRCm39) |
R187Q |
probably damaging |
Homo |
| Cryl1 |
C |
T |
14: 57,579,595 (GRCm39) |
|
probably benign |
Het |
| Cryzl2 |
C |
T |
1: 157,292,580 (GRCm39) |
Q48* |
probably null |
Het |
| Ephx4 |
A |
T |
5: 107,577,693 (GRCm39) |
D339V |
probably damaging |
Het |
| Eri2 |
A |
T |
7: 119,385,601 (GRCm39) |
V300E |
possibly damaging |
Het |
| F3 |
T |
A |
3: 121,518,648 (GRCm39) |
N37K |
probably damaging |
Homo |
| Fpr1 |
A |
T |
17: 18,097,068 (GRCm39) |
L307H |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,618 (GRCm39) |
N61K |
possibly damaging |
Het |
| Gm5548 |
T |
C |
3: 112,961,512 (GRCm39) |
|
noncoding transcript |
Homo |
| Il1r1 |
A |
G |
1: 40,352,323 (GRCm39) |
K498E |
possibly damaging |
Homo |
| Myh11 |
T |
C |
16: 14,068,443 (GRCm39) |
I192M |
probably damaging |
Homo |
| Nckap5 |
T |
C |
1: 125,953,591 (GRCm39) |
K923R |
probably damaging |
Het |
| Nmbr |
A |
T |
10: 14,642,747 (GRCm39) |
Y102F |
possibly damaging |
Het |
| Or6c75 |
A |
G |
10: 129,337,406 (GRCm39) |
T218A |
probably benign |
Homo |
| Pde1a |
C |
T |
2: 79,718,180 (GRCm39) |
|
probably benign |
Het |
| Pex6 |
T |
C |
17: 47,026,382 (GRCm39) |
|
probably benign |
Het |
| Rtn2 |
T |
C |
7: 19,027,099 (GRCm39) |
S305P |
probably damaging |
Homo |
| Saal1 |
G |
A |
7: 46,342,207 (GRCm39) |
T412I |
probably damaging |
Homo |
| Slc46a2 |
A |
T |
4: 59,913,867 (GRCm39) |
I352N |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,033,967 (GRCm39) |
H99L |
probably damaging |
Het |
| Tubgcp4 |
C |
T |
2: 121,014,815 (GRCm39) |
R242C |
probably damaging |
Het |
| Twf2 |
C |
A |
9: 106,084,141 (GRCm39) |
L27I |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,941 (GRCm39) |
H307Q |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,678,091 (GRCm39) |
V3047G |
possibly damaging |
Het |
|
| Other mutations in Dtx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01533:Dtx4
|
APN |
19 |
12,455,579 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02173:Dtx4
|
APN |
19 |
12,450,621 (GRCm39) |
nonsense |
probably null |
|
|
IGL03127:Dtx4
|
APN |
19 |
12,463,864 (GRCm39) |
splice site |
probably benign |
|
|
R0143:Dtx4
|
UTSW |
19 |
12,463,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0932:Dtx4
|
UTSW |
19 |
12,469,515 (GRCm39) |
missense |
probably benign |
|
|
R1066:Dtx4
|
UTSW |
19 |
12,478,373 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2155:Dtx4
|
UTSW |
19 |
12,462,646 (GRCm39) |
nonsense |
probably null |
|
|
R2182:Dtx4
|
UTSW |
19 |
12,460,471 (GRCm39) |
missense |
probably null |
0.75 |
|
R2362:Dtx4
|
UTSW |
19 |
12,469,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3880:Dtx4
|
UTSW |
19 |
12,463,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4108:Dtx4
|
UTSW |
19 |
12,478,487 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4361:Dtx4
|
UTSW |
19 |
12,462,660 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4943:Dtx4
|
UTSW |
19 |
12,478,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Dtx4
|
UTSW |
19 |
12,462,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5440:Dtx4
|
UTSW |
19 |
12,469,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Dtx4
|
UTSW |
19 |
12,462,767 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5614:Dtx4
|
UTSW |
19 |
12,459,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5703:Dtx4
|
UTSW |
19 |
12,459,574 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5994:Dtx4
|
UTSW |
19 |
12,478,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Dtx4
|
UTSW |
19 |
12,450,599 (GRCm39) |
nonsense |
probably null |
|
|
R7107:Dtx4
|
UTSW |
19 |
12,450,624 (GRCm39) |
nonsense |
probably null |
|
|
R7208:Dtx4
|
UTSW |
19 |
12,459,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7231:Dtx4
|
UTSW |
19 |
12,447,022 (GRCm39) |
nonsense |
probably null |
|
|
R7521:Dtx4
|
UTSW |
19 |
12,469,861 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7609:Dtx4
|
UTSW |
19 |
12,469,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Dtx4
|
UTSW |
19 |
12,459,500 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7775:Dtx4
|
UTSW |
19 |
12,469,374 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8685:Dtx4
|
UTSW |
19 |
12,446,995 (GRCm39) |
missense |
probably benign |
0.36 |
|
Z1176:Dtx4
|
UTSW |
19 |
12,469,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified a T to C transition at position 863 of the Dtx4transcript. According to the Genbank record, the Pex6 gene contains 17 total exons. The mutated nucleotide causes a leucine to phenylalanine substitution at amino acid 583 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
The Dtx4 gene encodes a 616 amino acid regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. The protein belongs to the Deltex family and contains a RING-type zinc finger at residues 406-465 and two WWE domains at residues 1-78 and 79-155. The WWE domains are thought to mediate some protein-protein interaction, and are frequently found in ubiquitin ligases (Uniprot Q6PDK8).
The L583P change is predicted to be probably damaging by the PolyPhen program . |
| Posted On |
2010-10-27 |
Incidental Mutation