Incidental Mutation 'R1006:Dcun1d1'
| ID |
95726 |
| 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 |
039116-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.700)
|
| Stock # |
R1006 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
35946254-35991594 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 35951930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108182]
[ENSMUST00000148465]
[ENSMUST00000178098]
[ENSMUST00000197489]
[ENSMUST00000198389]
[ENSMUST00000200661]
|
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.8%
- 10x: 93.4%
- 20x: 82.9%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
T |
8: 71,911,085 (GRCm39) |
I282N |
probably benign |
Het |
| Akr1c18 |
T |
C |
13: 4,186,654 (GRCm39) |
I265V |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,210,706 (GRCm39) |
I1788V |
probably benign |
Het |
| Cacng7 |
T |
A |
7: 3,415,445 (GRCm39) |
I270N |
possibly damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,170,328 (GRCm39) |
I138V |
possibly damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,311,342 (GRCm39) |
K983E |
probably benign |
Het |
| Col14a1 |
T |
C |
15: 55,383,331 (GRCm39) |
S1770P |
probably benign |
Het |
| Cpsf6 |
A |
T |
10: 117,201,973 (GRCm39) |
|
probably benign |
Het |
| Ctsc |
G |
A |
7: 87,959,037 (GRCm39) |
R439H |
probably damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,514 (GRCm39) |
I181V |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,343,183 (GRCm39) |
S567C |
probably damaging |
Het |
| Gm5114 |
A |
G |
7: 39,058,510 (GRCm39) |
S370P |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,546,527 (GRCm39) |
V1018A |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,758,993 (GRCm39) |
A952V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,756,326 (GRCm39) |
E340K |
possibly damaging |
Het |
| Lim2 |
T |
A |
7: 43,084,826 (GRCm39) |
I141N |
probably damaging |
Het |
| Nlrp4a |
T |
C |
7: 26,152,892 (GRCm39) |
V654A |
probably benign |
Het |
| Or5b24 |
T |
A |
19: 12,912,638 (GRCm39) |
C179S |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,986,826 (GRCm39) |
S890G |
probably benign |
Het |
| Psmd14 |
T |
A |
2: 61,627,726 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
A |
G |
5: 103,734,655 (GRCm39) |
D2129G |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,499,199 (GRCm39) |
T760M |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,975,041 (GRCm39) |
I317V |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,894,337 (GRCm39) |
H767Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,184,114 (GRCm39) |
G114D |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,681,577 (GRCm39) |
D2684E |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,182,362 (GRCm39) |
T1201A |
possibly damaging |
Het |
| Vax2 |
T |
C |
6: 83,714,759 (GRCm39) |
S225P |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,833,196 (GRCm39) |
|
probably null |
Het |
| Washc5 |
T |
A |
15: 59,241,035 (GRCm39) |
Q100L |
probably benign |
Het |
| Washc5 |
G |
T |
15: 59,241,036 (GRCm39) |
Q100K |
probably benign |
Het |
| Zc3h13 |
A |
G |
14: 75,567,989 (GRCm39) |
D1094G |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,663,404 (GRCm39) |
Y1051C |
unknown |
Het |
| Zswim2 |
G |
A |
2: 83,745,737 (GRCm39) |
S567L |
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 |
|
|
R0575:Dcun1d1
|
UTSW |
3 |
35,951,934 (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 |
2014-01-05 |
Incidental Mutation