Incidental Mutation 'IGL02733:Dtx1'
| ID |
305563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dtx1
|
| Ensembl Gene |
ENSMUSG00000029603 |
| Gene Name |
deltex 1, E3 ubiquitin ligase |
| Synonyms |
Fxit1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02733
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120818267-120849992 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120819500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 566
(L566P)
|
| 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: L566P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031607
Gene: ENSMUSG00000029603
AA Change: L566P
| 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 |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
T |
A |
4: 49,447,793 (GRCm39) |
T245S |
probably benign |
Het |
| Agl |
T |
C |
3: 116,574,646 (GRCm39) |
I718V |
probably benign |
Het |
| Cbs |
T |
A |
17: 31,844,005 (GRCm39) |
N209Y |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,302,300 (GRCm39) |
C955R |
probably damaging |
Het |
| Dnajb3 |
A |
G |
1: 88,132,662 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
G |
A |
16: 93,536,079 (GRCm39) |
R59Q |
possibly damaging |
Het |
| Fgf14 |
G |
T |
14: 124,221,213 (GRCm39) |
P197Q |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,094 (GRCm39) |
R83G |
probably benign |
Het |
| Gcc1 |
G |
A |
6: 28,420,661 (GRCm39) |
Q66* |
probably null |
Het |
| Gypc |
T |
C |
18: 32,692,879 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,819 (GRCm39) |
A1225V |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,358,274 (GRCm39) |
T2452A |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,943,152 (GRCm39) |
I2V |
probably benign |
Het |
| Impa1 |
A |
G |
3: 10,394,025 (GRCm39) |
I14T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,658,677 (GRCm39) |
D400V |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,711,184 (GRCm39) |
Y3206H |
probably damaging |
Het |
| Lce1k |
T |
A |
3: 92,714,192 (GRCm39) |
|
probably benign |
Het |
| Mcpt4 |
C |
T |
14: 56,298,124 (GRCm39) |
M142I |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,775,076 (GRCm39) |
E2168G |
probably benign |
Het |
| Myom3 |
G |
T |
4: 135,541,614 (GRCm39) |
E1402* |
probably null |
Het |
| Nfyb |
G |
T |
10: 82,590,867 (GRCm39) |
Q55K |
probably damaging |
Het |
| Nobox |
T |
C |
6: 43,284,136 (GRCm39) |
K137E |
possibly damaging |
Het |
| Pnlip |
T |
A |
19: 58,669,220 (GRCm39) |
D406E |
probably benign |
Het |
| Pole |
A |
T |
5: 110,460,594 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2b |
T |
C |
18: 42,781,793 (GRCm39) |
Y336C |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 31,279,701 (GRCm39) |
T178A |
probably damaging |
Het |
| Prr11 |
C |
T |
11: 86,994,371 (GRCm39) |
A92T |
possibly damaging |
Het |
| Racgap1 |
G |
T |
15: 99,537,585 (GRCm39) |
S67R |
probably damaging |
Het |
| Scn10a |
G |
A |
9: 119,445,771 (GRCm39) |
P1462S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,147,747 (GRCm39) |
E29G |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,021 (GRCm39) |
T133S |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,430,296 (GRCm39) |
H269R |
possibly damaging |
Het |
| Zwilch |
A |
T |
9: 64,054,118 (GRCm39) |
N526K |
probably benign |
Het |
|
| Other mutations in Dtx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0094:Dtx1
|
UTSW |
5 |
120,820,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation