Incidental Mutation 'R0575:Dcun1d1'
ID |
56187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcun1d1
|
Ensembl Gene |
ENSMUSG00000027708 |
Gene Name |
defective in cullin neddylation 1 domain containing 1 |
Synonyms |
Rp42, Tes3, SCCRO, DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae), pTes3 |
MMRRC Submission |
038765-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.700)
|
Stock # |
R0575 (G1)
|
Quality Score |
159 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
35946254-35991594 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 35951934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143716
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108182]
[ENSMUST00000148465]
[ENSMUST00000178098]
[ENSMUST00000197489]
[ENSMUST00000200661]
[ENSMUST00000198389]
|
AlphaFold |
Q9QZ73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000108182
|
SMART Domains |
Protein: ENSMUSP00000103817 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
9 |
50 |
1.6e-12 |
PFAM |
Pfam:Cullin_binding
|
136 |
247 |
2.2e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148465
|
SMART Domains |
Protein: ENSMUSP00000115420 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
1 |
35 |
2.5e-8 |
PFAM |
Pfam:Cullin_binding
|
119 |
214 |
9.4e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178098
|
SMART Domains |
Protein: ENSMUSP00000137324 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
1 |
35 |
3e-8 |
PFAM |
Pfam:Cullin_binding
|
119 |
233 |
6.7e-43 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196261
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197489
|
SMART Domains |
Protein: ENSMUSP00000142690 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
9 |
50 |
7.5e-11 |
PFAM |
PDB:3TDZ|B
|
62 |
89 |
9e-12 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197546
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200661
|
SMART Domains |
Protein: ENSMUSP00000143716 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
1 |
35 |
5e-9 |
PFAM |
Pfam:Cullin_binding
|
121 |
220 |
9.9e-31 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198389
|
SMART Domains |
Protein: ENSMUSP00000143243 Gene: ENSMUSG00000027708
Domain | Start | End | E-Value | Type |
Pfam:UBA_4
|
1 |
35 |
3e-8 |
PFAM |
Pfam:Cullin_binding
|
119 |
233 |
6.7e-43 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
Acsm1 |
G |
A |
7: 119,258,424 (GRCm39) |
|
probably null |
Het |
Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
probably damaging |
Het |
|
Other mutations in Dcun1d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Dcun1d1
|
APN |
3 |
35,970,455 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL00927:Dcun1d1
|
APN |
3 |
35,975,114 (GRCm39) |
splice site |
probably benign |
|
IGL03092:Dcun1d1
|
APN |
3 |
35,975,141 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03214:Dcun1d1
|
APN |
3 |
35,973,220 (GRCm39) |
missense |
probably damaging |
1.00 |
deacon
|
UTSW |
3 |
35,951,934 (GRCm39) |
splice site |
probably benign |
|
Preacher
|
UTSW |
3 |
35,951,940 (GRCm39) |
critical splice donor site |
probably null |
|
LCD18:Dcun1d1
|
UTSW |
3 |
35,992,154 (GRCm39) |
unclassified |
probably benign |
|
R1006:Dcun1d1
|
UTSW |
3 |
35,951,930 (GRCm39) |
splice site |
probably benign |
|
R1820:Dcun1d1
|
UTSW |
3 |
35,973,153 (GRCm39) |
nonsense |
probably null |
|
R4714:Dcun1d1
|
UTSW |
3 |
35,949,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R5849:Dcun1d1
|
UTSW |
3 |
35,970,333 (GRCm39) |
intron |
probably benign |
|
R6681:Dcun1d1
|
UTSW |
3 |
35,949,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R7312:Dcun1d1
|
UTSW |
3 |
35,951,940 (GRCm39) |
critical splice donor site |
probably null |
|
R8344:Dcun1d1
|
UTSW |
3 |
35,951,703 (GRCm39) |
missense |
probably benign |
0.05 |
R9049:Dcun1d1
|
UTSW |
3 |
35,951,998 (GRCm39) |
missense |
probably benign |
0.02 |
R9351:Dcun1d1
|
UTSW |
3 |
35,975,185 (GRCm39) |
missense |
probably benign |
|
X0018:Dcun1d1
|
UTSW |
3 |
35,975,293 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGGAAAAGTTAGTCCAGCATTTGC -3'
(R):5'- ATCCGCATCAGAACACCCTGTGAG -3'
Sequencing Primer
(F):5'- GACATGCTGAAATTAATGATGCCTTG -3'
(R):5'- GAGGTAAGCCAGACTGTTCTTCC -3'
|
Posted On |
2013-07-11 |