Incidental Mutation 'IGL02893:Cand2'
ID |
363281 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02893
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 115768921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 577
(L577P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075995
AA Change: L577P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: L577P
Domain | Start | End | E-Value | Type |
low complexity region
|
325 |
347 |
N/A |
INTRINSIC |
low complexity region
|
536 |
548 |
N/A |
INTRINSIC |
low complexity region
|
553 |
562 |
N/A |
INTRINSIC |
low complexity region
|
665 |
686 |
N/A |
INTRINSIC |
low complexity region
|
736 |
748 |
N/A |
INTRINSIC |
Pfam:HEAT
|
861 |
890 |
4.4e-5 |
PFAM |
Pfam:TIP120
|
1044 |
1209 |
6e-64 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,240,543 (GRCm39) |
V802A |
probably damaging |
Het |
Acsl6 |
G |
A |
11: 54,236,725 (GRCm39) |
V540M |
probably damaging |
Het |
Ahctf1 |
A |
C |
1: 179,603,576 (GRCm39) |
Y823* |
probably null |
Het |
Bbs1 |
T |
A |
19: 4,947,604 (GRCm39) |
K317* |
probably null |
Het |
Cfap44 |
A |
T |
16: 44,237,180 (GRCm39) |
D449V |
probably damaging |
Het |
Col28a1 |
C |
T |
6: 8,103,534 (GRCm39) |
G421S |
probably damaging |
Het |
Dgkd |
A |
G |
1: 87,842,930 (GRCm39) |
|
probably benign |
Het |
Entpd1 |
T |
C |
19: 40,715,961 (GRCm39) |
V347A |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,765,021 (GRCm39) |
|
probably benign |
Het |
Fam20a |
G |
A |
11: 109,612,414 (GRCm39) |
A43V |
probably benign |
Het |
Fbxo9 |
A |
G |
9: 77,989,377 (GRCm39) |
|
probably benign |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Gale |
T |
C |
4: 135,694,913 (GRCm39) |
V295A |
probably benign |
Het |
Gpr139 |
A |
T |
7: 118,744,366 (GRCm39) |
V73D |
probably damaging |
Het |
Hpca |
A |
T |
4: 129,012,215 (GRCm39) |
M107K |
probably damaging |
Het |
Igdcc4 |
G |
T |
9: 65,040,353 (GRCm39) |
V1002F |
probably damaging |
Het |
Irx4 |
T |
A |
13: 73,416,897 (GRCm39) |
L431H |
probably damaging |
Het |
Lca5l |
T |
C |
16: 95,980,113 (GRCm39) |
T6A |
probably benign |
Het |
Lrp4 |
C |
T |
2: 91,305,161 (GRCm39) |
R263C |
possibly damaging |
Het |
Meikin |
G |
A |
11: 54,308,584 (GRCm39) |
C394Y |
possibly damaging |
Het |
Mmp25 |
T |
C |
17: 23,863,025 (GRCm39) |
T129A |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,988 (GRCm39) |
|
probably null |
Het |
Mtmr3 |
A |
T |
11: 4,457,632 (GRCm39) |
M171K |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,570,466 (GRCm39) |
H509Y |
possibly damaging |
Het |
Nwd1 |
A |
T |
8: 73,394,129 (GRCm39) |
H464L |
probably damaging |
Het |
Or5k1 |
A |
G |
16: 58,618,020 (GRCm39) |
L63P |
probably damaging |
Het |
Paqr5 |
G |
A |
9: 61,876,150 (GRCm39) |
A128V |
probably benign |
Het |
Pcdhb10 |
G |
A |
18: 37,546,687 (GRCm39) |
V588M |
probably damaging |
Het |
Pip |
A |
G |
6: 41,824,596 (GRCm39) |
D28G |
probably damaging |
Het |
Rnf31 |
T |
A |
14: 55,836,566 (GRCm39) |
F800Y |
probably damaging |
Het |
Sag |
T |
G |
1: 87,762,315 (GRCm39) |
S327A |
probably benign |
Het |
Sdf4 |
T |
C |
4: 156,080,985 (GRCm39) |
|
probably benign |
Het |
Slc10a6 |
A |
T |
5: 103,776,739 (GRCm39) |
D120E |
probably benign |
Het |
Spata31d1d |
T |
A |
13: 59,873,793 (GRCm39) |
K1247N |
possibly damaging |
Het |
Stam2 |
A |
G |
2: 52,604,914 (GRCm39) |
V207A |
probably damaging |
Het |
Sytl3 |
T |
C |
17: 7,000,373 (GRCm39) |
L181P |
probably damaging |
Het |
Tbc1d32 |
T |
C |
10: 55,893,799 (GRCm39) |
E1258G |
probably damaging |
Het |
Tmem63b |
T |
G |
17: 45,972,826 (GRCm39) |
H656P |
probably damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,926 (GRCm39) |
M15L |
probably benign |
Het |
Tmprss7 |
T |
A |
16: 45,489,891 (GRCm39) |
I444F |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,614,210 (GRCm39) |
R168L |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,433,251 (GRCm39) |
Y2095C |
possibly damaging |
Het |
Ube3c |
A |
G |
5: 29,837,761 (GRCm39) |
Y643C |
probably damaging |
Het |
Ywhaq |
G |
A |
12: 21,446,410 (GRCm39) |
A152V |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,886,619 (GRCm39) |
I813F |
probably benign |
Het |
|
Other mutations in Cand2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01323:Cand2
|
APN |
6 |
115,762,086 (GRCm39) |
missense |
probably benign |
|
IGL01329:Cand2
|
APN |
6 |
115,759,755 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01777:Cand2
|
APN |
6 |
115,769,818 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02008:Cand2
|
APN |
6 |
115,780,599 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02185:Cand2
|
APN |
6 |
115,766,471 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02219:Cand2
|
APN |
6 |
115,780,773 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02240:Cand2
|
APN |
6 |
115,780,623 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02329:Cand2
|
APN |
6 |
115,766,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02396:Cand2
|
APN |
6 |
115,768,149 (GRCm39) |
splice site |
probably benign |
|
IGL03161:Cand2
|
APN |
6 |
115,769,698 (GRCm39) |
missense |
probably benign |
0.45 |
IGL03170:Cand2
|
APN |
6 |
115,774,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03257:Cand2
|
APN |
6 |
115,776,944 (GRCm39) |
missense |
possibly damaging |
0.80 |
succor
|
UTSW |
6 |
115,768,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Cand2
|
UTSW |
6 |
115,766,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R0390:Cand2
|
UTSW |
6 |
115,751,614 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0534:Cand2
|
UTSW |
6 |
115,764,197 (GRCm39) |
missense |
probably damaging |
0.96 |
R0630:Cand2
|
UTSW |
6 |
115,780,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R0631:Cand2
|
UTSW |
6 |
115,780,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R0662:Cand2
|
UTSW |
6 |
115,764,171 (GRCm39) |
missense |
probably benign |
0.00 |
R0671:Cand2
|
UTSW |
6 |
115,780,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R0708:Cand2
|
UTSW |
6 |
115,780,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R0849:Cand2
|
UTSW |
6 |
115,769,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Cand2
|
UTSW |
6 |
115,762,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3428:Cand2
|
UTSW |
6 |
115,766,668 (GRCm39) |
missense |
probably benign |
|
R3773:Cand2
|
UTSW |
6 |
115,762,178 (GRCm39) |
missense |
probably damaging |
0.96 |
R4329:Cand2
|
UTSW |
6 |
115,776,949 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4489:Cand2
|
UTSW |
6 |
115,766,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R4553:Cand2
|
UTSW |
6 |
115,769,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R4577:Cand2
|
UTSW |
6 |
115,768,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R4634:Cand2
|
UTSW |
6 |
115,774,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R4850:Cand2
|
UTSW |
6 |
115,778,909 (GRCm39) |
missense |
probably benign |
0.14 |
R5155:Cand2
|
UTSW |
6 |
115,769,219 (GRCm39) |
missense |
probably benign |
0.42 |
R5190:Cand2
|
UTSW |
6 |
115,766,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5378:Cand2
|
UTSW |
6 |
115,778,912 (GRCm39) |
missense |
probably benign |
0.00 |
R5407:Cand2
|
UTSW |
6 |
115,762,161 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5698:Cand2
|
UTSW |
6 |
115,768,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:Cand2
|
UTSW |
6 |
115,774,893 (GRCm39) |
missense |
probably damaging |
0.99 |
R6172:Cand2
|
UTSW |
6 |
115,768,271 (GRCm39) |
missense |
probably benign |
0.00 |
R6763:Cand2
|
UTSW |
6 |
115,776,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6920:Cand2
|
UTSW |
6 |
115,768,250 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7229:Cand2
|
UTSW |
6 |
115,768,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R7520:Cand2
|
UTSW |
6 |
115,762,212 (GRCm39) |
nonsense |
probably null |
|
R8183:Cand2
|
UTSW |
6 |
115,768,879 (GRCm39) |
missense |
probably benign |
0.14 |
R8698:Cand2
|
UTSW |
6 |
115,763,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Cand2
|
UTSW |
6 |
115,769,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R8795:Cand2
|
UTSW |
6 |
115,763,889 (GRCm39) |
missense |
probably benign |
0.01 |
R8900:Cand2
|
UTSW |
6 |
115,757,894 (GRCm39) |
missense |
probably benign |
0.00 |
R9072:Cand2
|
UTSW |
6 |
115,769,490 (GRCm39) |
missense |
probably damaging |
0.99 |
R9242:Cand2
|
UTSW |
6 |
115,768,923 (GRCm39) |
missense |
probably benign |
0.27 |
R9262:Cand2
|
UTSW |
6 |
115,759,730 (GRCm39) |
missense |
probably benign |
0.27 |
R9547:Cand2
|
UTSW |
6 |
115,759,757 (GRCm39) |
missense |
probably benign |
0.00 |
R9676:Cand2
|
UTSW |
6 |
115,769,122 (GRCm39) |
missense |
probably benign |
0.26 |
|
Posted On |
2015-12-18 |