Incidental Mutation 'R7521:Dtx4'
| ID |
582689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx4
|
| Ensembl Gene |
ENSMUSG00000039982 |
| Gene Name |
deltex 4, E3 ubiquitin ligase |
| Synonyms |
RNF155 |
| MMRRC Submission |
045593-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.418)
|
| Stock # |
R7521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12443702-12478818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12469861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 89
(K89E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045521]
|
| AlphaFold |
Q6PDK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045521
AA Change: K89E
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982
AA Change: K89E
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| Abcg1 |
A |
G |
17: 31,283,543 (GRCm39) |
N76S |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
| Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
| Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
| Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,261 (GRCm39) |
N283I |
probably damaging |
Het |
| Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
| Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
| Or55b3 |
C |
T |
7: 102,126,402 (GRCm39) |
R225H |
possibly damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
| Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
| Phax |
C |
T |
18: 56,708,990 (GRCm39) |
Q185* |
probably null |
Het |
| Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,665,268 (GRCm39) |
V488A |
possibly damaging |
Het |
| Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
| Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
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 |
|
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 |
|
|
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'- CCATGGGGTAGATGAGGTCTAG -3'
(R):5'- ACACACTACTAGGCAGCATAGG -3'
Sequencing Primer
(F):5'- AGGTCTAGTCGTCGTCTGACAC -3'
(R):5'- ATAGGGCCTGCCACACAGTAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation