Incidental Mutation 'R0708:Cand2'
ID |
63849 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
038891-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0708 (G1)
|
Quality Score |
133 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115780766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 1217
(E1217K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
[ENSMUST00000081840]
[ENSMUST00000203816]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075995
AA Change: E1217K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: E1217K
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081840
|
SMART Domains |
Protein: ENSMUSP00000080523 Gene: ENSMUSG00000057841
Domain | Start | End | E-Value | Type |
Ribosomal_L32e
|
17 |
124 |
1.79e-82 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082629
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203816
|
SMART Domains |
Protein: ENSMUSP00000145350 Gene: ENSMUSG00000057841
Domain | Start | End | E-Value | Type |
Ribosomal_L32e
|
17 |
124 |
1.79e-82 |
SMART |
|
Meta Mutation Damage Score |
0.1389 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
Ints14 |
G |
A |
9: 64,891,266 (GRCm39) |
V416I |
probably benign |
Het |
Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
Ogfod1 |
C |
T |
8: 94,765,673 (GRCm39) |
L79F |
possibly damaging |
Het |
Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,528 (GRCm39) |
M72K |
possibly damaging |
Het |
Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
Sgcb |
A |
T |
5: 73,798,225 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTAAGGACACTGTCTCCCTCTGC -3'
(R):5'- ACGCTCGTGAATGAACGTCCTG -3'
Sequencing Primer
(F):5'- GCAGGTCAAGGCTGGTTC -3'
(R):5'- CGTGAATGAACGTCCTGAGTTG -3'
|
Posted On |
2013-07-30 |