Incidental Mutation 'R3880:Dtx4'
ID |
312803 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx4
|
Ensembl Gene |
ENSMUSG00000039982 |
Gene Name |
deltex 4, E3 ubiquitin ligase |
Synonyms |
RNF155 |
MMRRC Submission |
040794-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R3880 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
12443702-12478818 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 12463820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 321
(S321A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
|
AlphaFold |
Q6PDK8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045521
AA Change: S321A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000040229 Gene: ENSMUSG00000039982 AA Change: S321A
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 |
|
Meta Mutation Damage Score |
0.0731 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
92% (35/38) |
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
G |
6: 142,584,959 (GRCm39) |
W872R |
probably damaging |
Het |
Abcg3 |
T |
C |
5: 105,086,046 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
T |
A |
13: 81,583,824 (GRCm39) |
Q4627L |
probably benign |
Het |
Armc2 |
T |
C |
10: 41,839,721 (GRCm39) |
I415V |
possibly damaging |
Het |
Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,261,948 (GRCm39) |
M107V |
probably benign |
Het |
Ccdc43 |
T |
C |
11: 102,583,029 (GRCm39) |
|
probably null |
Het |
Enox1 |
A |
T |
14: 77,848,826 (GRCm39) |
H379L |
possibly damaging |
Het |
Evx1 |
A |
T |
6: 52,290,846 (GRCm39) |
D6V |
probably damaging |
Het |
Fubp1 |
T |
A |
3: 151,926,133 (GRCm39) |
V286E |
probably damaging |
Het |
Itgav |
T |
C |
2: 83,598,645 (GRCm39) |
V234A |
probably damaging |
Het |
Khdc3 |
T |
C |
9: 73,010,872 (GRCm39) |
S241P |
possibly damaging |
Het |
Lipc |
T |
A |
9: 70,727,800 (GRCm39) |
I16F |
probably damaging |
Het |
Mael |
T |
C |
1: 166,064,437 (GRCm39) |
|
probably benign |
Het |
Myo7b |
T |
G |
18: 32,102,567 (GRCm39) |
E1487A |
probably damaging |
Het |
Or52a33 |
T |
G |
7: 103,288,831 (GRCm39) |
K172T |
probably benign |
Het |
Osgin1 |
A |
G |
8: 120,168,191 (GRCm39) |
H6R |
probably benign |
Het |
Otog |
C |
T |
7: 45,937,445 (GRCm39) |
T1718I |
possibly damaging |
Het |
Otogl |
T |
C |
10: 107,663,565 (GRCm39) |
E1002G |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,911,983 (GRCm39) |
N241S |
unknown |
Het |
Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Slc6a2 |
C |
A |
8: 93,716,846 (GRCm39) |
N337K |
probably damaging |
Het |
Snx19 |
A |
T |
9: 30,373,688 (GRCm39) |
Q917L |
probably damaging |
Het |
Srsf3 |
T |
C |
17: 29,255,257 (GRCm39) |
V14A |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,471,874 (GRCm39) |
V4729I |
probably benign |
Het |
Syngap1 |
T |
A |
17: 27,172,038 (GRCm39) |
I82N |
probably damaging |
Het |
Telo2 |
A |
T |
17: 25,325,807 (GRCm39) |
M407K |
probably damaging |
Het |
Thsd7b |
G |
A |
1: 129,523,107 (GRCm39) |
G47D |
probably damaging |
Het |
Tradd |
A |
T |
8: 105,987,287 (GRCm39) |
N6K |
possibly damaging |
Het |
Trim30a |
C |
A |
7: 104,060,396 (GRCm39) |
C460F |
probably benign |
Het |
Trip13 |
T |
C |
13: 74,066,597 (GRCm39) |
Y318C |
probably damaging |
Het |
Ubfd1 |
T |
A |
7: 121,667,999 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,215,885 (GRCm39) |
|
probably benign |
Het |
Wdr7 |
T |
A |
18: 63,857,226 (GRCm39) |
C101S |
possibly damaging |
Het |
Zfp345 |
T |
C |
2: 150,314,075 (GRCm39) |
I487M |
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 |
|
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 |
|
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 |
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'- GTTTAGCACCACCCACTGAG -3'
(R):5'- CTCTGATCATGGCTGAAGATCTG -3'
Sequencing Primer
(F):5'- TAGCACCACCCACTGAGCTTTC -3'
(R):5'- CGACATTTTCCAAAGGTGCG -3'
|
Posted On |
2015-04-30 |