Incidental Mutation 'R4329:Cand2'
ID |
324516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
041663-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4329 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 115776949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1112
(H1112Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075995
AA Change: H1112Q
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: H1112Q
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
96% (68/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
C |
A |
5: 113,243,455 (GRCm39) |
|
probably null |
Het |
Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
Ampd2 |
C |
A |
3: 107,985,103 (GRCm39) |
|
probably benign |
Het |
Ang2 |
A |
T |
14: 51,433,325 (GRCm39) |
I19N |
possibly damaging |
Het |
Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
Cacna1s |
A |
C |
1: 136,046,771 (GRCm39) |
D1819A |
probably benign |
Het |
Catsperd |
T |
A |
17: 56,961,517 (GRCm39) |
I413K |
possibly damaging |
Het |
Ccdc142 |
T |
A |
6: 83,083,997 (GRCm39) |
|
probably benign |
Het |
Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
Celsr3 |
C |
T |
9: 108,723,248 (GRCm39) |
R2847C |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,373,530 (GRCm39) |
S1270L |
probably damaging |
Het |
Chka |
T |
C |
19: 3,925,803 (GRCm39) |
|
probably benign |
Het |
Cntnap5b |
T |
A |
1: 99,999,888 (GRCm39) |
D215E |
probably damaging |
Het |
Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
Cspg4 |
T |
C |
9: 56,799,749 (GRCm39) |
F1539L |
probably damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
Dchs1 |
A |
T |
7: 105,402,966 (GRCm39) |
I3192N |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,688,441 (GRCm39) |
D1870E |
probably benign |
Het |
Drc1 |
A |
T |
5: 30,513,002 (GRCm39) |
I359L |
probably benign |
Het |
Esp1 |
A |
G |
17: 41,039,768 (GRCm39) |
M18V |
probably benign |
Het |
Exoc1 |
T |
A |
5: 76,715,822 (GRCm39) |
F789L |
probably damaging |
Het |
Fbxw22 |
T |
A |
9: 109,213,111 (GRCm39) |
T279S |
probably damaging |
Het |
Frem1 |
G |
A |
4: 82,904,774 (GRCm39) |
A880V |
probably benign |
Het |
Gm29514 |
A |
G |
1: 146,296,429 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
T |
C |
6: 110,891,325 (GRCm39) |
L186P |
probably damaging |
Het |
Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
Klk4 |
A |
G |
7: 43,533,830 (GRCm39) |
D202G |
probably damaging |
Het |
Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,960,861 (GRCm39) |
Y808N |
probably damaging |
Het |
Myom1 |
C |
T |
17: 71,343,348 (GRCm39) |
L182F |
probably damaging |
Het |
Nova1 |
A |
T |
12: 46,767,615 (GRCm39) |
I102N |
unknown |
Het |
Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
Patl2 |
C |
T |
2: 121,958,018 (GRCm39) |
S80N |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
Pkmyt1 |
T |
A |
17: 23,951,709 (GRCm39) |
Y88N |
probably damaging |
Het |
Pnkp |
T |
C |
7: 44,508,018 (GRCm39) |
S114P |
probably benign |
Het |
Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
Sema4d |
T |
C |
13: 51,857,340 (GRCm39) |
R631G |
probably benign |
Het |
Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
Skint9 |
A |
C |
4: 112,249,062 (GRCm39) |
L122R |
probably damaging |
Het |
Slc16a13 |
T |
C |
11: 70,108,723 (GRCm39) |
N369S |
probably benign |
Het |
Strada |
A |
G |
11: 106,077,999 (GRCm39) |
|
probably benign |
Het |
Tnxb |
C |
A |
17: 34,912,838 (GRCm39) |
S1784Y |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,736,727 (GRCm39) |
V318A |
probably damaging |
Het |
Ttc3 |
G |
A |
16: 94,267,820 (GRCm39) |
R1589H |
probably damaging |
Het |
Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,618,969 (GRCm39) |
Y58H |
probably damaging |
Het |
Xylt1 |
G |
A |
7: 117,255,684 (GRCm39) |
G752D |
probably damaging |
Het |
Yipf7 |
A |
T |
5: 69,678,465 (GRCm39) |
L55Q |
probably damaging |
Het |
Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
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 |
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'- GGTGAGGTGAGTATTCCAAACC -3'
(R):5'- ACATCCAAGATCTGGTTCCTCG -3'
Sequencing Primer
(F):5'- GAGGTGAGTATTCCAAACCCTCTATG -3'
(R):5'- TTAAAGGTGTGCGCTACCAC -3'
|
Posted On |
2015-06-24 |