Incidental Mutation 'R0849:Cand2'
ID |
77061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
039028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0849 (G1)
|
Quality Score |
120 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 115769352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 721
(T721A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075995
AA Change: T721A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: T721A
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: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
Armc9 |
G |
A |
1: 86,184,992 (GRCm39) |
R681K |
probably benign |
Het |
Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,644,418 (GRCm39) |
D622V |
probably damaging |
Het |
Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
Inhca |
A |
C |
9: 103,140,256 (GRCm39) |
Y488D |
possibly damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,966 (GRCm39) |
I244T |
possibly damaging |
Het |
Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCGACTTGGGGACGACCTAGAAC -3'
(R):5'- TGCAGTGAGCAGGCTAATGAGC -3'
Sequencing Primer
(F):5'- AATGAGATCACCCGGTTGC -3'
(R):5'- TAATGAGCTCCGAGTACTCCAC -3'
|
Posted On |
2013-10-16 |