Incidental Mutation 'R6425:Dtl'
| ID |
518280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dtl
|
| Ensembl Gene |
ENSMUSG00000037474 |
| Gene Name |
denticleless E3 ubiquitin protein ligase |
| Synonyms |
5730564G15Rik, 2810047L02Rik |
| MMRRC Submission |
044564-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191269468-191307656 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 191278735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 376
(I376V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027933]
[ENSMUST00000193977]
[ENSMUST00000195650]
|
| AlphaFold |
Q3TLR7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027933
AA Change: I376V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027933
Gene: ENSMUSG00000037474
AA Change: I376V
| 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: ENSMUST00000193977
|
| SMART Domains |
Protein: ENSMUSP00000142111
Gene: ENSMUSG00000037474
| 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
|
| SMART Domains |
Protein: ENSMUSP00000141218
Gene: ENSMUSG00000037474
| 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: ENSMUST00000195765
|
| Meta Mutation Damage Score |
0.0627 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
| Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
| Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
| Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
| Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
| F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
| Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
| Glyr1 |
A |
T |
16: 4,854,350 (GRCm39) |
|
probably null |
Het |
| Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
| Lgals4 |
A |
T |
7: 28,533,885 (GRCm39) |
K20* |
probably null |
Het |
| Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,640 (GRCm39) |
V345A |
possibly damaging |
Het |
| Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
| Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
C |
T |
5: 66,180,159 (GRCm39) |
G452S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
| Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
| Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,630,329 (GRCm39) |
M622K |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
| Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
possibly damaging |
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 |
|
R0370:Dtl
|
UTSW |
1 |
191,307,462 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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'- GCTCCCATAGTACACAGTAGGAC -3'
(R):5'- ATGATTCTGAAGCACGAGGG -3'
Sequencing Primer
(F):5'- TAGTACACAGTAGGACTCAACTAAC -3'
(R):5'- TGATTCTGAAGCACGAGGGATAGAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation