Incidental Mutation 'R0094:Dtx1'
| ID |
64000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtx1
|
| Ensembl Gene |
ENSMUSG00000029603 |
| Gene Name |
deltex 1, E3 ubiquitin ligase |
| Synonyms |
Fxit1 |
| MMRRC Submission |
038380-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0094 (G1)
|
| Quality Score |
100 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
120818267-120849992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120820689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 455
(Y455H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031606]
[ENSMUST00000031607]
[ENSMUST00000156722]
|
| AlphaFold |
Q61010 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031606
|
| SMART Domains |
Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
113 |
7.74e-13 |
SMART |
|
C2
|
134 |
231 |
2e-15 |
SMART |
|
RasGAP
|
241 |
604 |
3.96e-166 |
SMART |
|
PH
|
566 |
674 |
2.76e-16 |
SMART |
|
BTK
|
674 |
710 |
2.24e-4 |
SMART |
|
low complexity region
|
731 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031607
AA Change: Y455H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: Y455H
| Domain | Start | End | E-Value | Type |
|---|
|
WWE
|
23 |
102 |
1.29e-38 |
SMART |
|
WWE
|
104 |
179 |
3.88e-33 |
SMART |
|
low complexity region
|
226 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
RING
|
418 |
478 |
5.82e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154759
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156722
|
| SMART Domains |
Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
113 |
7.74e-13 |
SMART |
|
C2
|
134 |
231 |
2e-15 |
SMART |
|
RasGAP
|
241 |
604 |
3.96e-166 |
SMART |
|
PH
|
566 |
674 |
2.76e-16 |
SMART |
|
BTK
|
674 |
710 |
2.24e-4 |
SMART |
|
low complexity region
|
731 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201264
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile with normal B and T cell devlepment and function and no gross abnormalities in any of the major organs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
| Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
| Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
| Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
| Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
| Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
| Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
| Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
| Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
| Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
| Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
| Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
| Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
| Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
| Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
| Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,819 (GRCm39) |
H134R |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
| Other mutations in Dtx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02733:Dtx1
|
APN |
5 |
120,819,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03104:Dtx1
|
APN |
5 |
120,833,030 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL03139:Dtx1
|
APN |
5 |
120,832,955 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0173:Dtx1
|
UTSW |
5 |
120,820,818 (GRCm39) |
unclassified |
probably benign |
|
|
R0268:Dtx1
|
UTSW |
5 |
120,819,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0375:Dtx1
|
UTSW |
5 |
120,819,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Dtx1
|
UTSW |
5 |
120,833,057 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1109:Dtx1
|
UTSW |
5 |
120,848,484 (GRCm39) |
start gained |
probably benign |
|
|
R1456:Dtx1
|
UTSW |
5 |
120,848,569 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1541:Dtx1
|
UTSW |
5 |
120,848,411 (GRCm39) |
start gained |
probably benign |
|
|
R1554:Dtx1
|
UTSW |
5 |
120,821,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Dtx1
|
UTSW |
5 |
120,832,541 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2568:Dtx1
|
UTSW |
5 |
120,848,249 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3946:Dtx1
|
UTSW |
5 |
120,819,351 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4697:Dtx1
|
UTSW |
5 |
120,832,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6150:Dtx1
|
UTSW |
5 |
120,819,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Dtx1
|
UTSW |
5 |
120,833,082 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6980:Dtx1
|
UTSW |
5 |
120,819,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Dtx1
|
UTSW |
5 |
120,833,148 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7399:Dtx1
|
UTSW |
5 |
120,820,458 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9117:Dtx1
|
UTSW |
5 |
120,848,356 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Dtx1
|
UTSW |
5 |
120,821,360 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Dtx1
|
UTSW |
5 |
120,819,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAACTCCATCTTCCCTGGTGGC -3'
(R):5'- AGTTTAACAGCATCGCACCTGTCC -3'
Sequencing Primer
(F):5'- GCTTTGCAGGTTGGACAC -3'
(R):5'- GGGTGATTAAGCATTTAACCCCTG -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation