Incidental Mutation 'R5703:Dtx4'
ID |
451815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dtx4
|
Ensembl Gene |
ENSMUSG00000039982 |
Gene Name |
deltex 4, E3 ubiquitin ligase |
Synonyms |
RNF155 |
MMRRC Submission |
043183-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.418)
|
Stock # |
R5703 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
12443702-12478818 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12459574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 410
(M410K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040229
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
|
AlphaFold |
Q6PDK8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045521
AA Change: M410K
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040229 Gene: ENSMUSG00000039982 AA Change: M410K
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
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 |
Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,286,985 (GRCm39) |
F454L |
probably damaging |
Het |
Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
probably benign |
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 |
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 |
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'- ACGAGTTCCAACAACGTGTG -3'
(R):5'- GCTAGCCTGTATGCATGTATGG -3'
Sequencing Primer
(F):5'- GGAACCAGTCATGACCTCAC -3'
(R):5'- GGGAATTATTTGAGGAATATCTCTGC -3'
|
Posted On |
2017-01-03 |