Incidental Mutation 'R0370:Dtl'
| ID |
30411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtl
|
| Ensembl Gene |
ENSMUSG00000037474 |
| Gene Name |
denticleless E3 ubiquitin protein ligase |
| Synonyms |
5730564G15Rik, 2810047L02Rik |
| MMRRC Submission |
038576-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0370 (G1)
|
| Quality Score |
163 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
191269468-191307656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 191307462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 17
(N17K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027933]
[ENSMUST00000045450]
[ENSMUST00000193569]
[ENSMUST00000193977]
[ENSMUST00000195650]
[ENSMUST00000194877]
[ENSMUST00000194785]
|
| AlphaFold |
Q3TLR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027933
AA Change: N17K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: N17K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
30 |
80 |
1e-24 |
BLAST |
|
WD40
|
87 |
126 |
2.61e-3 |
SMART |
|
WD40
|
129 |
169 |
8.04e-4 |
SMART |
|
WD40
|
205 |
244 |
8.29e-1 |
SMART |
|
Blast:WD40
|
265 |
299 |
1e-11 |
BLAST |
|
WD40
|
304 |
345 |
1.29e-2 |
SMART |
|
WD40
|
349 |
389 |
1.07e-8 |
SMART |
|
low complexity region
|
427 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
630 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
690 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045450
|
| SMART Domains |
Protein: ENSMUSP00000036277
Gene: ENSMUSG00000037461
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
76 |
530 |
1e-10 |
SMART |
|
low complexity region
|
937 |
960 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193569
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193961
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193977
AA Change: N17K
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000142111
Gene: ENSMUSG00000037474
AA Change: N17K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
30 |
80 |
1e-26 |
BLAST |
|
SCOP:d1e1aa_
|
65 |
108 |
6e-5 |
SMART |
|
Blast:WD40
|
87 |
113 |
6e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195650
AA Change: N17K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141218
Gene: ENSMUSG00000037474
AA Change: N17K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
30 |
80 |
2e-26 |
BLAST |
|
WD40
|
87 |
126 |
1.6e-5 |
SMART |
|
Blast:WD40
|
129 |
154 |
7e-10 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194877
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194785
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mutation of this gene results in very early embryonic lethality around or before E1.5. In vitro siRNA knockdown experiments show that the gene is essential cell survival and cell cycle progression to allow proper blastocyst formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
| Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
| Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
| Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
| Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
| Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
| Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
| Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
| Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
| Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
| Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
| Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
| Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
| Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
| Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
| Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
| Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
| Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
| Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
| Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,388,006 (GRCm39) |
E160G |
probably damaging |
Het |
| Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
| Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
| Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
probably benign |
Het |
|
| Other mutations in Dtl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00678:Dtl
|
APN |
1 |
191,278,738 (GRCm39) |
splice site |
probably null |
|
|
IGL01069:Dtl
|
APN |
1 |
191,293,651 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01135:Dtl
|
APN |
1 |
191,280,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01307:Dtl
|
APN |
1 |
191,302,811 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01461:Dtl
|
APN |
1 |
191,278,729 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01809:Dtl
|
APN |
1 |
191,280,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01958:Dtl
|
APN |
1 |
191,300,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02217:Dtl
|
APN |
1 |
191,300,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Dtl
|
APN |
1 |
191,273,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02445:Dtl
|
APN |
1 |
191,290,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02661:Dtl
|
APN |
1 |
191,273,483 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02864:Dtl
|
APN |
1 |
191,288,938 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02897:Dtl
|
APN |
1 |
191,273,656 (GRCm39) |
splice site |
probably benign |
|
|
IGL03069:Dtl
|
APN |
1 |
191,289,008 (GRCm39) |
splice site |
probably benign |
|
|
PIT4418001:Dtl
|
UTSW |
1 |
191,273,429 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0513:Dtl
|
UTSW |
1 |
191,301,819 (GRCm39) |
nonsense |
probably null |
|
|
R1386:Dtl
|
UTSW |
1 |
191,301,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Dtl
|
UTSW |
1 |
191,293,649 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1575:Dtl
|
UTSW |
1 |
191,293,658 (GRCm39) |
splice site |
probably null |
|
|
R2128:Dtl
|
UTSW |
1 |
191,290,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2297:Dtl
|
UTSW |
1 |
191,273,207 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2344:Dtl
|
UTSW |
1 |
191,280,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3121:Dtl
|
UTSW |
1 |
191,285,175 (GRCm39) |
nonsense |
probably null |
|
|
R3808:Dtl
|
UTSW |
1 |
191,280,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4722:Dtl
|
UTSW |
1 |
191,288,953 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4753:Dtl
|
UTSW |
1 |
191,301,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4904:Dtl
|
UTSW |
1 |
191,300,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4965:Dtl
|
UTSW |
1 |
191,278,677 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5068:Dtl
|
UTSW |
1 |
191,300,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Dtl
|
UTSW |
1 |
191,273,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Dtl
|
UTSW |
1 |
191,278,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5911:Dtl
|
UTSW |
1 |
191,300,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5992:Dtl
|
UTSW |
1 |
191,300,684 (GRCm39) |
splice site |
probably null |
|
|
R6425:Dtl
|
UTSW |
1 |
191,278,735 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7403:Dtl
|
UTSW |
1 |
191,295,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8756:Dtl
|
UTSW |
1 |
191,271,371 (GRCm39) |
missense |
probably benign |
|
|
R8835:Dtl
|
UTSW |
1 |
191,293,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8850:Dtl
|
UTSW |
1 |
191,285,175 (GRCm39) |
nonsense |
probably null |
|
|
R9091:Dtl
|
UTSW |
1 |
191,288,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Dtl
|
UTSW |
1 |
191,288,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Dtl
|
UTSW |
1 |
191,300,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCAAGCACGATGTTCTTCGG -3'
(R):5'- CCATAAGAGCGGAATTAGCGTCCAG -3'
Sequencing Primer
(F):5'- ACGATGTTCTTCGGCGGTC -3'
(R):5'- AGGGAGCCTGTGAACCTTG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation