Incidental Mutation 'R1066:Dtx4'
| ID |
86029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx4
|
| Ensembl Gene |
ENSMUSG00000039982 |
| Gene Name |
deltex 4, E3 ubiquitin ligase |
| Synonyms |
RNF155 |
| MMRRC Submission |
039152-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.462)
|
| Stock # |
R1066 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12443702-12478818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 12478373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 70
(T70K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
|
| AlphaFold |
Q6PDK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045521
AA Change: T70K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: T70K
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
| Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
| BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
| Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
| Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
| Mkln1 |
A |
C |
6: 31,395,922 (GRCm39) |
N52T |
possibly damaging |
Het |
| Msantd5f6 |
C |
A |
4: 73,320,066 (GRCm39) |
V238L |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
| P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
| Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
| Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
| Pik3r1 |
T |
A |
13: 101,825,171 (GRCm39) |
R465S |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
| Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
| Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
| Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Uba2 |
A |
T |
7: 33,858,247 (GRCm39) |
F70I |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
| Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
| Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
probably 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 |
|
|
G5030:Dtx4
|
UTSW |
19 |
12,446,943 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0143:Dtx4
|
UTSW |
19 |
12,463,846 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0932:Dtx4
|
UTSW |
19 |
12,469,515 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACGGCTACTAGGGGCTGATGG -3'
(R):5'- CCTTTGCATGAAGCCGCTGGAC -3'
Sequencing Primer
(F):5'- GCATAAAGGGGTTCTCCTGC -3'
(R):5'- CGTGTCCCAGTGCCTAC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation