Incidental Mutation 'R0667:Cand1'
| ID |
62070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cand1
|
| Ensembl Gene |
ENSMUSG00000020114 |
| Gene Name |
cullin associated and neddylation disassociated 1 |
| Synonyms |
6330512O03Rik, 2310038O07Rik, D10Ertd516e |
| MMRRC Submission |
038852-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0667 (G1)
|
| Quality Score |
94 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
119035160-119075960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119052425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 234
(S234P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115234
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020315]
[ENSMUST00000126373]
|
| AlphaFold |
Q6ZQ38 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020315
AA Change: S227P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000020315
Gene: ENSMUSG00000020114
AA Change: S227P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qgra_
|
53 |
994 |
4e-44 |
SMART |
|
Pfam:TIP120
|
1040 |
1203 |
1.9e-68 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126373
AA Change: S234P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000115234
Gene: ENSMUSG00000020114
AA Change: S234P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEAT
|
56 |
86 |
2.1e-5 |
PFAM |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
Pfam:HEAT_EZ
|
155 |
209 |
3.7e-6 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149155
|
| Meta Mutation Damage Score |
0.0753 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
T |
11: 110,218,637 (GRCm39) |
N76K |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,215,710 (GRCm39) |
R244C |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,962,115 (GRCm39) |
S1143P |
probably benign |
Het |
| Avl9 |
G |
T |
6: 56,713,468 (GRCm39) |
R242L |
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,215,220 (GRCm39) |
I144L |
probably benign |
Het |
| Cep76 |
A |
T |
18: 67,767,848 (GRCm39) |
L228Q |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,535,744 (GRCm39) |
L2584S |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,755,823 (GRCm39) |
D155E |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,907,158 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
C |
18: 20,706,556 (GRCm39) |
D24A |
possibly damaging |
Het |
| Gm5901 |
G |
A |
7: 105,026,697 (GRCm39) |
S155N |
possibly damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,247,644 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,234,364 (GRCm39) |
V714A |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 192,188,346 (GRCm39) |
S936T |
probably benign |
Het |
| Klhdc3 |
A |
T |
17: 46,988,151 (GRCm39) |
F205I |
probably benign |
Het |
| Krt31 |
T |
A |
11: 99,938,951 (GRCm39) |
H290L |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,220,406 (GRCm39) |
|
probably null |
Het |
| Mep1a |
T |
G |
17: 43,789,081 (GRCm39) |
D565A |
probably benign |
Het |
| Mgme1 |
T |
A |
2: 144,120,907 (GRCm39) |
|
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,252,369 (GRCm39) |
T409I |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,081,794 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
G |
11: 75,559,338 (GRCm39) |
E650G |
probably damaging |
Het |
| Nipbl |
A |
C |
15: 8,390,488 (GRCm39) |
D260E |
possibly damaging |
Het |
| Nufip2 |
T |
A |
11: 77,582,839 (GRCm39) |
V251D |
possibly damaging |
Het |
| Or2n1e |
C |
A |
17: 38,586,048 (GRCm39) |
P129T |
probably damaging |
Het |
| Or4a2 |
T |
C |
2: 89,248,032 (GRCm39) |
I242V |
probably benign |
Het |
| Or7g35 |
T |
A |
9: 19,496,743 (GRCm39) |
N303K |
probably benign |
Het |
| Osm |
G |
T |
11: 4,189,918 (GRCm39) |
R234L |
possibly damaging |
Het |
| Pabpc1 |
G |
A |
15: 36,598,275 (GRCm39) |
A515V |
probably benign |
Het |
| Piwil1 |
T |
A |
5: 128,818,542 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
G |
3: 28,133,327 (GRCm39) |
|
probably null |
Het |
| Plekhg3 |
C |
T |
12: 76,623,372 (GRCm39) |
R871C |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,555 (GRCm39) |
Y1147F |
probably damaging |
Het |
| Prmt3 |
A |
G |
7: 49,441,743 (GRCm39) |
Y240C |
probably damaging |
Het |
| Prr36 |
G |
T |
8: 4,266,311 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,875,583 (GRCm39) |
I908T |
probably damaging |
Het |
| Sae1 |
A |
T |
7: 16,102,457 (GRCm39) |
N172K |
probably damaging |
Het |
| Satb1 |
T |
G |
17: 52,089,889 (GRCm39) |
Q319H |
probably damaging |
Het |
| Scart2 |
C |
G |
7: 139,841,450 (GRCm39) |
S251R |
possibly damaging |
Het |
| Scn2a |
A |
T |
2: 65,582,340 (GRCm39) |
I1563F |
possibly damaging |
Het |
| Scn3a |
C |
A |
2: 65,314,755 (GRCm39) |
R1102L |
probably null |
Het |
| Serpinb9b |
T |
A |
13: 33,216,909 (GRCm39) |
L60* |
probably null |
Het |
| Setd1a |
A |
G |
7: 127,385,765 (GRCm39) |
D281G |
probably damaging |
Het |
| Slc8a1 |
C |
A |
17: 81,956,310 (GRCm39) |
V243F |
probably damaging |
Het |
| Tgfbr3 |
A |
T |
5: 107,325,716 (GRCm39) |
H115Q |
probably benign |
Het |
| Tiam1 |
C |
A |
16: 89,694,872 (GRCm39) |
S195I |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,086,113 (GRCm39) |
V803A |
probably benign |
Het |
| Ttc5 |
T |
A |
14: 51,003,415 (GRCm39) |
Q423L |
probably benign |
Het |
| Tyk2 |
A |
C |
9: 21,020,167 (GRCm39) |
V997G |
probably damaging |
Het |
| Uhrf1 |
T |
C |
17: 56,617,677 (GRCm39) |
V133A |
probably benign |
Het |
| Vmn2r107 |
A |
C |
17: 20,575,916 (GRCm39) |
Y82S |
possibly damaging |
Het |
| Vmn2r93 |
T |
C |
17: 18,546,503 (GRCm39) |
F792L |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,858,855 (GRCm39) |
W2768* |
probably null |
Het |
| Zfp456 |
A |
T |
13: 67,514,861 (GRCm39) |
C282S |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,916,561 (GRCm39) |
N562D |
possibly damaging |
Het |
| Zmynd15 |
G |
T |
11: 70,355,944 (GRCm39) |
G481C |
probably damaging |
Het |
|
| Other mutations in Cand1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Cand1
|
APN |
10 |
119,047,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00917:Cand1
|
APN |
10 |
119,046,841 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01383:Cand1
|
APN |
10 |
119,044,072 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02016:Cand1
|
APN |
10 |
119,048,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02271:Cand1
|
APN |
10 |
119,047,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02282:Cand1
|
APN |
10 |
119,046,614 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02494:Cand1
|
APN |
10 |
119,049,522 (GRCm39) |
missense |
probably benign |
|
|
IGL02527:Cand1
|
APN |
10 |
119,042,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Cand1
|
APN |
10 |
119,055,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02796:Cand1
|
UTSW |
10 |
119,049,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Cand1
|
UTSW |
10 |
119,052,427 (GRCm39) |
missense |
probably benign |
|
|
R1589:Cand1
|
UTSW |
10 |
119,049,471 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1591:Cand1
|
UTSW |
10 |
119,047,774 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1626:Cand1
|
UTSW |
10 |
119,045,919 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1771:Cand1
|
UTSW |
10 |
119,044,211 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1937:Cand1
|
UTSW |
10 |
119,038,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1951:Cand1
|
UTSW |
10 |
119,043,925 (GRCm39) |
splice site |
probably benign |
|
|
R1990:Cand1
|
UTSW |
10 |
119,045,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3522:Cand1
|
UTSW |
10 |
119,075,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4207:Cand1
|
UTSW |
10 |
119,047,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4209:Cand1
|
UTSW |
10 |
119,047,463 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4502:Cand1
|
UTSW |
10 |
119,052,572 (GRCm39) |
missense |
probably benign |
|
|
R4791:Cand1
|
UTSW |
10 |
119,046,607 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4841:Cand1
|
UTSW |
10 |
119,049,451 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4842:Cand1
|
UTSW |
10 |
119,049,451 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5326:Cand1
|
UTSW |
10 |
119,047,933 (GRCm39) |
missense |
probably benign |
|
|
R5606:Cand1
|
UTSW |
10 |
119,047,359 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5613:Cand1
|
UTSW |
10 |
119,051,228 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5768:Cand1
|
UTSW |
10 |
119,046,910 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5884:Cand1
|
UTSW |
10 |
119,049,670 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6006:Cand1
|
UTSW |
10 |
119,045,933 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6062:Cand1
|
UTSW |
10 |
119,053,915 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6734:Cand1
|
UTSW |
10 |
119,047,897 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6838:Cand1
|
UTSW |
10 |
119,045,935 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7058:Cand1
|
UTSW |
10 |
119,047,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7342:Cand1
|
UTSW |
10 |
119,047,692 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7425:Cand1
|
UTSW |
10 |
119,052,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7705:Cand1
|
UTSW |
10 |
119,048,343 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7812:Cand1
|
UTSW |
10 |
119,053,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7916:Cand1
|
UTSW |
10 |
119,052,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7982:Cand1
|
UTSW |
10 |
119,052,378 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8117:Cand1
|
UTSW |
10 |
119,042,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Cand1
|
UTSW |
10 |
119,047,213 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
Z1176:Cand1
|
UTSW |
10 |
119,075,099 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGAGTGTGAATCTGGAAACC -3'
(R):5'- GAGAAGGGATGCTAGGCTTTTGGAC -3'
Sequencing Primer
(F):5'- TGAATCTGGAAACCCATGTACGAC -3'
(R):5'- AGACATACTGCTAGTGCTCTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation