Incidental Mutation 'R6469:Dcun1d4'
ID |
520256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dcun1d4
|
Ensembl Gene |
ENSMUSG00000051674 |
Gene Name |
defective in cullin neddylation 1 domain containing 4 |
Synonyms |
DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) |
MMRRC Submission |
044602-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
R6469 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
73638353-73718137 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 73691957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 155
(M155I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063882]
[ENSMUST00000087181]
[ENSMUST00000113558]
[ENSMUST00000133137]
[ENSMUST00000134092]
[ENSMUST00000136268]
[ENSMUST00000145645]
|
AlphaFold |
Q8CCA0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063882
AA Change: M141I
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000067616 Gene: ENSMUSG00000051674 AA Change: M141I
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
173 |
287 |
3.4e-35 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087181
AA Change: M155I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084427 Gene: ENSMUSG00000051674 AA Change: M155I
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
189 |
300 |
1.3e-32 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113558
AA Change: M141I
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109187 Gene: ENSMUSG00000051674 AA Change: M141I
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
Pfam:Cullin_binding
|
203 |
252 |
2e-18 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130087
|
SMART Domains |
Protein: ENSMUSP00000118392 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
PDB:3KEV|A
|
44 |
109 |
3e-9 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133137
|
SMART Domains |
Protein: ENSMUSP00000120055 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134092
|
SMART Domains |
Protein: ENSMUSP00000118710 Gene: ENSMUSG00000051674
Domain | Start | End | E-Value | Type |
low complexity region
|
47 |
58 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136268
AA Change: M81I
PolyPhen 2
Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119983 Gene: ENSMUSG00000051674 AA Change: M81I
Domain | Start | End | E-Value | Type |
PDB:4GBA|B
|
42 |
104 |
2e-8 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145645
AA Change: M81I
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122689 Gene: ENSMUSG00000051674 AA Change: M81I
Domain | Start | End | E-Value | Type |
PDB:4GBA|B
|
42 |
101 |
1e-7 |
PDB |
|
Meta Mutation Damage Score |
0.0980 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
Tsc1 |
G |
A |
2: 28,561,898 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
probably damaging |
Het |
|
Other mutations in Dcun1d4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02194:Dcun1d4
|
APN |
5 |
73,638,544 (GRCm39) |
splice site |
probably benign |
|
IGL02345:Dcun1d4
|
APN |
5 |
73,668,495 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03264:Dcun1d4
|
APN |
5 |
73,677,572 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4402001:Dcun1d4
|
UTSW |
5 |
73,668,276 (GRCm39) |
missense |
probably benign |
0.09 |
R1184:Dcun1d4
|
UTSW |
5 |
73,668,455 (GRCm39) |
splice site |
probably benign |
|
R2266:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2267:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2268:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R2269:Dcun1d4
|
UTSW |
5 |
73,638,618 (GRCm39) |
splice site |
probably benign |
|
R4027:Dcun1d4
|
UTSW |
5 |
73,691,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4029:Dcun1d4
|
UTSW |
5 |
73,691,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4031:Dcun1d4
|
UTSW |
5 |
73,691,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R4788:Dcun1d4
|
UTSW |
5 |
73,691,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R4961:Dcun1d4
|
UTSW |
5 |
73,701,463 (GRCm39) |
nonsense |
probably null |
|
R5245:Dcun1d4
|
UTSW |
5 |
73,714,657 (GRCm39) |
missense |
probably benign |
0.11 |
R5284:Dcun1d4
|
UTSW |
5 |
73,680,025 (GRCm39) |
splice site |
probably null |
|
R5457:Dcun1d4
|
UTSW |
5 |
73,688,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R5728:Dcun1d4
|
UTSW |
5 |
73,677,491 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6813:Dcun1d4
|
UTSW |
5 |
73,678,300 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7165:Dcun1d4
|
UTSW |
5 |
73,648,538 (GRCm39) |
splice site |
probably null |
|
R7439:Dcun1d4
|
UTSW |
5 |
73,648,879 (GRCm39) |
critical splice donor site |
probably null |
|
R8706:Dcun1d4
|
UTSW |
5 |
73,714,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R8730:Dcun1d4
|
UTSW |
5 |
73,688,832 (GRCm39) |
splice site |
probably benign |
|
R8768:Dcun1d4
|
UTSW |
5 |
73,678,310 (GRCm39) |
missense |
probably benign |
0.03 |
R9326:Dcun1d4
|
UTSW |
5 |
73,680,018 (GRCm39) |
missense |
probably benign |
|
R9496:Dcun1d4
|
UTSW |
5 |
73,668,272 (GRCm39) |
missense |
probably damaging |
0.98 |
X0063:Dcun1d4
|
UTSW |
5 |
73,712,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGAGAAACTTCTTAGTAGCC -3'
(R):5'- GTGCTACCAGAGGAGATTGG -3'
Sequencing Primer
(F):5'- GTAGCCCACTAATTTATAAATCAC -3'
(R):5'- GGAGATTGGAGAGGTCCCTC -3'
|
Posted On |
2018-06-06 |