Incidental Mutation 'R6617:Cul3'
| ID |
524112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cul3
|
| Ensembl Gene |
ENSMUSG00000004364 |
| Gene Name |
cullin 3 |
| Synonyms |
|
| MMRRC Submission |
044740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6617 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
80242640-80318197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80254156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 540
(N540S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000163119]
[ENSMUST00000164108]
|
| AlphaFold |
Q9JLV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163119
AA Change: N606S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130738
Gene: ENSMUSG00000004364
AA Change: N606S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4AP2|B
|
1 |
389 |
N/A |
PDB |
|
SCOP:d1ldja2
|
30 |
382 |
1e-117 |
SMART |
|
Blast:CULLIN
|
258 |
295 |
2e-15 |
BLAST |
|
CULLIN
|
413 |
563 |
1.98e-90 |
SMART |
|
Cullin_Nedd8
|
695 |
762 |
1.49e-36 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164108
AA Change: N540S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131891
Gene: ENSMUSG00000004364
AA Change: N540S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ldja2
|
23 |
316 |
1e-101 |
SMART |
|
PDB:4APF|B
|
23 |
323 |
N/A |
PDB |
|
Blast:CULLIN
|
192 |
229 |
1e-15 |
BLAST |
|
CULLIN
|
347 |
497 |
1.98e-90 |
SMART |
|
Cullin_Nedd8
|
629 |
696 |
1.49e-36 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167794
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168372
AA Change: N59S
|
| SMART Domains |
Protein: ENSMUSP00000132485
Gene: ENSMUSG00000004364
AA Change: N59S
| Domain | Start | End | E-Value | Type |
|---|
|
Cullin_Nedd8
|
38 |
105 |
3.28e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192839
|
| Meta Mutation Damage Score |
0.4039 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for a targeted null mutation accumulate cyclin E, exhibit abnormal cycling in cells of extraembryonic ectoderm and trophectoderm, reduced size, abnormal gastrulation and trophoblast cells, absence of an amnion, and death by embryonic day 7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,454,152 (GRCm39) |
I323K |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 110,437,332 (GRCm39) |
V81D |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,380,111 (GRCm39) |
D2147G |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,489,592 (GRCm39) |
L308P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 5,074,668 (GRCm39) |
L1076I |
probably benign |
Het |
| Chp2 |
T |
C |
7: 121,819,917 (GRCm39) |
V59A |
probably benign |
Het |
| Cped1 |
T |
A |
6: 22,215,546 (GRCm39) |
C555* |
probably null |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Crispld1 |
G |
A |
1: 17,798,886 (GRCm39) |
M2I |
probably benign |
Het |
| Dll4 |
A |
G |
2: 119,158,412 (GRCm39) |
T134A |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,186,931 (GRCm39) |
T1305I |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,280,731 (GRCm39) |
|
probably null |
Het |
| Gm9195 |
A |
T |
14: 72,669,215 (GRCm39) |
L2649H |
probably damaging |
Het |
| Gprc5c |
A |
G |
11: 114,754,931 (GRCm39) |
I203V |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,619,547 (GRCm39) |
D1189G |
probably benign |
Het |
| Hnrnpl |
C |
A |
7: 28,518,009 (GRCm39) |
|
probably benign |
Het |
| Homer1 |
T |
A |
13: 93,478,370 (GRCm39) |
Y38N |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,766,962 (GRCm39) |
T707A |
probably benign |
Het |
| Lmbrd1 |
G |
A |
1: 24,724,509 (GRCm39) |
R31Q |
probably damaging |
Het |
| Mbtps1 |
G |
A |
8: 120,264,876 (GRCm39) |
P341S |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,580,512 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,252,226 (GRCm39) |
T1445S |
probably benign |
Het |
| Ncapg |
C |
T |
5: 45,827,474 (GRCm39) |
A37V |
probably benign |
Het |
| Neb |
A |
G |
2: 52,097,759 (GRCm39) |
F4909L |
probably damaging |
Het |
| Nrcam |
T |
A |
12: 44,587,746 (GRCm39) |
W141R |
probably damaging |
Het |
| Or6k4 |
T |
G |
1: 173,964,814 (GRCm39) |
F168C |
probably damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,781 (GRCm39) |
E247G |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,873,715 (GRCm39) |
I333M |
possibly damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,235,310 (GRCm39) |
F69L |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,467,980 (GRCm39) |
T349K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,306,746 (GRCm39) |
S276P |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,059,517 (GRCm39) |
S275P |
probably damaging |
Het |
| Topors |
G |
A |
4: 40,261,896 (GRCm39) |
Q463* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,577,001 (GRCm39) |
D1101G |
possibly damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,984 (GRCm39) |
A54T |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,919,711 (GRCm39) |
V185A |
possibly damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,494 (GRCm39) |
*855R |
probably null |
Het |
|
| Other mutations in Cul3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00558:Cul3
|
APN |
1 |
80,266,457 (GRCm39) |
splice site |
probably benign |
|
|
IGL01454:Cul3
|
APN |
1 |
80,281,900 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01510:Cul3
|
APN |
1 |
80,260,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01701:Cul3
|
APN |
1 |
80,255,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02117:Cul3
|
APN |
1 |
80,300,781 (GRCm39) |
splice site |
probably benign |
|
|
IGL02194:Cul3
|
APN |
1 |
80,300,754 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02217:Cul3
|
APN |
1 |
80,261,484 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02417:Cul3
|
APN |
1 |
80,300,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02445:Cul3
|
APN |
1 |
80,281,886 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02601:Cul3
|
APN |
1 |
80,249,432 (GRCm39) |
intron |
probably benign |
|
|
IGL03201:Cul3
|
APN |
1 |
80,259,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Cul3
|
UTSW |
1 |
80,258,580 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0662:Cul3
|
UTSW |
1 |
80,249,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0688:Cul3
|
UTSW |
1 |
80,249,281 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0761:Cul3
|
UTSW |
1 |
80,255,203 (GRCm39) |
unclassified |
probably benign |
|
|
R0924:Cul3
|
UTSW |
1 |
80,267,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0930:Cul3
|
UTSW |
1 |
80,267,835 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0940:Cul3
|
UTSW |
1 |
80,300,564 (GRCm39) |
intron |
probably benign |
|
|
R1117:Cul3
|
UTSW |
1 |
80,258,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Cul3
|
UTSW |
1 |
80,260,506 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2384:Cul3
|
UTSW |
1 |
80,261,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3894:Cul3
|
UTSW |
1 |
80,261,407 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4676:Cul3
|
UTSW |
1 |
80,249,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4893:Cul3
|
UTSW |
1 |
80,266,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4908:Cul3
|
UTSW |
1 |
80,258,632 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4910:Cul3
|
UTSW |
1 |
80,267,806 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5173:Cul3
|
UTSW |
1 |
80,259,133 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5787:Cul3
|
UTSW |
1 |
80,260,438 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5887:Cul3
|
UTSW |
1 |
80,254,139 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6057:Cul3
|
UTSW |
1 |
80,249,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6066:Cul3
|
UTSW |
1 |
80,261,476 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6279:Cul3
|
UTSW |
1 |
80,264,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6300:Cul3
|
UTSW |
1 |
80,264,669 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7059:Cul3
|
UTSW |
1 |
80,254,141 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7223:Cul3
|
UTSW |
1 |
80,264,717 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7774:Cul3
|
UTSW |
1 |
80,247,011 (GRCm39) |
missense |
probably benign |
|
|
R7958:Cul3
|
UTSW |
1 |
80,249,274 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9494:Cul3
|
UTSW |
1 |
80,255,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9544:Cul3
|
UTSW |
1 |
80,258,576 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Cul3
|
UTSW |
1 |
80,267,808 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGCATGACCCAGTAATG -3'
(R):5'- TTATTGGAGCAGAGAAGCTTATGGG -3'
Sequencing Primer
(F):5'- CATGACCCAGTAATGGATGAAGCTC -3'
(R):5'- GGAAGATGGATCTGAGGTT -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation