Incidental Mutation 'R5698:Cand2'
ID |
450787 |
Institutional Source |
Beutler Lab
|
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 # |
R5698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 115768704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 505
(L505F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075995
AA Change: L505F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: L505F
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
A |
G |
11: 3,926,366 (GRCm39) |
K334E |
possibly damaging |
Het |
Ache |
G |
A |
5: 137,288,821 (GRCm39) |
V176M |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,784,605 (GRCm39) |
D539G |
probably damaging |
Het |
Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,803,831 (GRCm39) |
|
probably benign |
Het |
Amigo2 |
G |
A |
15: 97,143,607 (GRCm39) |
Q272* |
probably null |
Het |
Aoc1l1 |
A |
G |
6: 48,953,256 (GRCm39) |
T394A |
possibly damaging |
Het |
Appbp2 |
A |
T |
11: 85,100,925 (GRCm39) |
H171Q |
probably damaging |
Het |
Arhgef18 |
A |
G |
8: 3,489,499 (GRCm39) |
D277G |
probably damaging |
Het |
Armc8 |
A |
G |
9: 99,417,873 (GRCm39) |
V95A |
probably benign |
Het |
Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
A |
T |
5: 67,924,496 (GRCm39) |
N289K |
probably benign |
Het |
Ccnt2 |
A |
G |
1: 127,730,965 (GRCm39) |
K614R |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,272,632 (GRCm39) |
|
probably null |
Het |
Copa |
T |
A |
1: 171,946,511 (GRCm39) |
L976* |
probably null |
Het |
Ddx39b |
T |
C |
17: 35,470,287 (GRCm39) |
V267A |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,164,655 (GRCm39) |
Q709L |
probably damaging |
Het |
Eno4 |
A |
G |
19: 58,956,904 (GRCm39) |
|
probably null |
Het |
Exoc3 |
A |
G |
13: 74,322,134 (GRCm39) |
L647P |
probably benign |
Het |
Eya4 |
T |
C |
10: 23,015,975 (GRCm39) |
S308G |
possibly damaging |
Het |
Fbxo41 |
T |
C |
6: 85,454,638 (GRCm39) |
T693A |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,791,447 (GRCm39) |
T903A |
possibly damaging |
Het |
Fkbp10 |
G |
T |
11: 100,314,352 (GRCm39) |
W384L |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,559,926 (GRCm39) |
I1527T |
possibly damaging |
Het |
H13 |
T |
A |
2: 152,530,875 (GRCm39) |
I220N |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,531,312 (GRCm39) |
R468G |
probably damaging |
Het |
Ighmbp2 |
A |
G |
19: 3,324,538 (GRCm39) |
S243P |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,455 (GRCm39) |
H587R |
probably benign |
Het |
Kcnk1 |
C |
T |
8: 126,752,144 (GRCm39) |
T250M |
probably damaging |
Het |
Kif9 |
T |
C |
9: 110,339,532 (GRCm39) |
V458A |
probably benign |
Het |
Krt14 |
T |
C |
11: 100,096,451 (GRCm39) |
T208A |
probably benign |
Het |
Mybpc3 |
C |
A |
2: 90,955,194 (GRCm39) |
H349Q |
possibly damaging |
Het |
Neurl3 |
T |
A |
1: 36,305,587 (GRCm39) |
T207S |
possibly damaging |
Het |
Nol9 |
T |
C |
4: 152,135,031 (GRCm39) |
V388A |
probably damaging |
Het |
Notch3 |
T |
C |
17: 32,376,961 (GRCm39) |
N315D |
probably damaging |
Het |
Oas1h |
G |
T |
5: 121,009,045 (GRCm39) |
A252S |
probably damaging |
Het |
Or13c7b |
C |
A |
4: 43,821,183 (GRCm39) |
M59I |
probably damaging |
Het |
Pcbp1 |
G |
A |
6: 86,502,134 (GRCm39) |
T255M |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,083,808 (GRCm39) |
V18A |
probably benign |
Het |
Ppp1r17 |
A |
T |
6: 56,003,529 (GRCm39) |
E114V |
probably damaging |
Het |
Scamp5 |
A |
T |
9: 57,352,716 (GRCm39) |
M151K |
possibly damaging |
Het |
Sestd1 |
T |
C |
2: 77,048,512 (GRCm39) |
Y135C |
possibly damaging |
Het |
Slc22a21 |
T |
G |
11: 53,842,175 (GRCm39) |
K534N |
probably benign |
Het |
Slc25a12 |
T |
C |
2: 71,112,917 (GRCm39) |
E448G |
probably damaging |
Het |
Slco3a1 |
A |
G |
7: 73,996,566 (GRCm39) |
L280P |
probably damaging |
Het |
Sppl2b |
C |
A |
10: 80,701,879 (GRCm39) |
|
probably null |
Het |
Srd5a2 |
T |
C |
17: 74,334,014 (GRCm39) |
E135G |
possibly damaging |
Het |
Tfg |
A |
T |
16: 56,521,467 (GRCm39) |
M183K |
probably damaging |
Het |
Ticrr |
G |
A |
7: 79,328,881 (GRCm39) |
M673I |
probably benign |
Het |
Tm4sf20 |
T |
G |
1: 82,745,958 (GRCm39) |
M61L |
probably benign |
Het |
Ttll8 |
A |
T |
15: 88,823,209 (GRCm39) |
S85T |
possibly damaging |
Het |
Uggt2 |
G |
A |
14: 119,280,138 (GRCm39) |
S780F |
probably damaging |
Het |
Uroc1 |
T |
C |
6: 90,324,302 (GRCm39) |
L442P |
probably damaging |
Het |
Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
Znrf3 |
A |
G |
11: 5,239,006 (GRCm39) |
|
probably benign |
Het |
Zswim2 |
C |
A |
2: 83,755,527 (GRCm39) |
D125Y |
possibly damaging |
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 |
|
IGL02893:Cand2
|
APN |
6 |
115,768,921 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTAAGATGAGTTCTGGCCTTG -3'
(R):5'- ACATATGGTTCAGGGTCCAGC -3'
Sequencing Primer
(F):5'- CTCAGCTCTGGTGGCTTCTAG -3'
(R):5'- AGCAGCCGAGGCCTATC -3'
|
Posted On |
2017-01-03 |