Incidental Mutation 'R5701:Cand2'
ID |
450888 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
043181-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5701 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 115774893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 1034
(F1034V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075995
AA Change: F1034V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: F1034V
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: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Chrnd |
G |
A |
1: 87,125,380 (GRCm39) |
V340I |
possibly damaging |
Het |
Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
Kri1 |
T |
A |
9: 21,192,425 (GRCm39) |
K241M |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
Synpo2 |
C |
G |
3: 122,873,879 (GRCm39) |
G1029A |
probably damaging |
Het |
Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,404,492 (GRCm39) |
F304L |
probably benign |
Het |
Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
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 |
|
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 |
R5698:Cand2
|
UTSW |
6 |
115,768,704 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GAAGCTAGGCATTCTTATTTGGGC -3'
(R):5'- GAGTCTTGACTGTGAGGCAC -3'
Sequencing Primer
(F):5'- ACGGCATTGTGTCTGGCTTAAG -3'
(R):5'- CAGAAGGCTCAACAAGGGCC -3'
|
Posted On |
2017-01-03 |