Incidental Mutation 'R1820:Dcun1d1'
| ID |
204769 |
| 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 |
039848-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.700)
|
| Stock # |
R1820 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
35946254-35991594 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 35973153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 114
(L114*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143716
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108182]
[ENSMUST00000148465]
[ENSMUST00000178098]
[ENSMUST00000196270]
[ENSMUST00000197489]
[ENSMUST00000198389]
[ENSMUST00000199173]
[ENSMUST00000200661]
[ENSMUST00000198362]
|
| AlphaFold |
Q9QZ73 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000108182
AA Change: L129*
|
| SMART Domains |
Protein: ENSMUSP00000103817
Gene: ENSMUSG00000027708
AA Change: L129*
| 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 null
Transcript: ENSMUST00000148465
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000115420
Gene: ENSMUSG00000027708
AA Change: L114*
| 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 null
Transcript: ENSMUST00000178098
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000137324
Gene: ENSMUSG00000027708
AA Change: L114*
| 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: ENSMUST00000196115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196263
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000196270
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000142384
Gene: ENSMUSG00000027708
AA Change: L114*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
8.8e-9 |
PFAM |
|
PDB:3TDZ|B
|
47 |
115 |
3e-44 |
PDB |
|
| 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 null
Transcript: ENSMUST00000198389
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000143243
Gene: ENSMUSG00000027708
AA Change: L114*
| 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 null
Transcript: ENSMUST00000199173
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000142443
Gene: ENSMUSG00000027708
AA Change: L114*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
1 |
35 |
8.8e-9 |
PFAM |
|
PDB:3TDZ|B
|
47 |
115 |
3e-44 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000197546
AA Change: L128*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200661
AA Change: L114*
|
| SMART Domains |
Protein: ENSMUSP00000143716
Gene: ENSMUSG00000027708
AA Change: L114*
| 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 null
Transcript: ENSMUST00000198362
AA Change: L7*
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
| 9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
| Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
| Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
| Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
| Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
| Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
| Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
| Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
| Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
| Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
| Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
| Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
| Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
| Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
| Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
| Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
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 |
|
|
R1006:Dcun1d1
|
UTSW |
3 |
35,951,930 (GRCm39) |
splice site |
probably benign |
|
|
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'- AGGCATTTGGCAAACCCAG -3'
(R):5'- ATAGGCTGTTATGTGGGGAAACATC -3'
Sequencing Primer
(F):5'- GGCATTTGGCAAACCCAGAAAATAC -3'
(R):5'- CAACTTCATGTCTCTGGTATATTGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation