Incidental Mutation 'R5378:Cand2'
ID |
425687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
042953-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5378 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115778912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1159
(A1159T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
[ENSMUST00000081840]
[ENSMUST00000203816]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075995
AA Change: A1159T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: A1159T
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 |
probably benign
Transcript: ENSMUST00000203816
|
SMART Domains |
Protein: ENSMUSP00000145350 Gene: ENSMUSG00000057841
Domain | Start | End | E-Value | Type |
Ribosomal_L32e
|
17 |
124 |
1.79e-82 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
T |
A |
16: 8,396,141 (GRCm39) |
F39L |
probably benign |
Het |
Abca2 |
T |
G |
2: 25,336,080 (GRCm39) |
L2150R |
probably damaging |
Het |
Apob |
T |
A |
12: 8,061,865 (GRCm39) |
V3449D |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,715,548 (GRCm39) |
V1331D |
probably damaging |
Het |
Bora |
A |
G |
14: 99,305,929 (GRCm39) |
N433D |
probably damaging |
Het |
Ccser1 |
C |
T |
6: 61,288,650 (GRCm39) |
A271V |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,601,391 (GRCm39) |
T331I |
possibly damaging |
Het |
Cemip |
A |
G |
7: 83,607,733 (GRCm39) |
S758P |
probably damaging |
Het |
Cenpf |
C |
T |
1: 189,385,663 (GRCm39) |
V2206I |
possibly damaging |
Het |
Chrnb1 |
A |
T |
11: 69,676,007 (GRCm39) |
S412T |
probably benign |
Het |
Cks1b |
A |
C |
3: 89,323,608 (GRCm39) |
W54G |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,708,872 (GRCm39) |
V630M |
unknown |
Het |
Dnajb14 |
A |
G |
3: 137,591,139 (GRCm39) |
D30G |
probably benign |
Het |
Dpp8 |
T |
C |
9: 64,985,296 (GRCm39) |
Y785H |
probably damaging |
Het |
Dsel |
T |
A |
1: 111,790,551 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
Esp8 |
G |
A |
17: 40,841,033 (GRCm39) |
C98Y |
unknown |
Het |
F11 |
C |
A |
8: 45,705,180 (GRCm39) |
M120I |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,820,185 (GRCm39) |
F5306S |
possibly damaging |
Het |
Gm4841 |
T |
C |
18: 60,404,113 (GRCm39) |
|
probably null |
Het |
Gpr180 |
T |
A |
14: 118,377,251 (GRCm39) |
L84Q |
probably benign |
Het |
Grwd1 |
A |
T |
7: 45,479,505 (GRCm39) |
D123E |
probably benign |
Het |
Hsfy2 |
T |
C |
1: 56,675,827 (GRCm39) |
R237G |
probably benign |
Het |
Htr5a |
A |
G |
5: 28,055,993 (GRCm39) |
Y328C |
probably damaging |
Het |
Klrb1f |
G |
A |
6: 129,030,794 (GRCm39) |
A127T |
probably damaging |
Het |
Mcpt4 |
A |
T |
14: 56,299,750 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,415,940 (GRCm39) |
V2962A |
unknown |
Het |
Or52s19 |
T |
A |
7: 103,007,652 (GRCm39) |
I250F |
probably damaging |
Het |
Or5t15 |
A |
T |
2: 86,681,807 (GRCm39) |
N78K |
probably benign |
Het |
Otog |
A |
T |
7: 45,904,428 (GRCm39) |
T518S |
probably damaging |
Het |
Phgdh |
A |
T |
3: 98,228,639 (GRCm39) |
|
probably null |
Het |
Pip5kl1 |
A |
T |
2: 32,469,106 (GRCm39) |
T213S |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,062,094 (GRCm39) |
R594W |
probably damaging |
Het |
Prg4 |
T |
A |
1: 150,330,977 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
T |
A |
2: 53,035,888 (GRCm39) |
D621V |
probably damaging |
Het |
Ptgr3 |
G |
A |
18: 84,112,803 (GRCm39) |
A160T |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,007,401 (GRCm39) |
I1655F |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,128,558 (GRCm39) |
K55E |
probably damaging |
Het |
Rbm43 |
A |
T |
2: 51,815,633 (GRCm39) |
V196E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,282,861 (GRCm39) |
M434L |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc35f1 |
A |
T |
10: 52,567,157 (GRCm39) |
H22L |
possibly damaging |
Het |
Smg6 |
A |
G |
11: 74,932,820 (GRCm39) |
D98G |
possibly damaging |
Het |
Strbp |
A |
G |
2: 37,489,186 (GRCm39) |
Y527H |
probably damaging |
Het |
Strbp |
A |
G |
2: 37,490,818 (GRCm39) |
V479A |
probably benign |
Het |
Tdg |
G |
T |
10: 82,477,305 (GRCm39) |
V119L |
probably benign |
Het |
Trav10d |
G |
A |
14: 53,048,825 (GRCm39) |
R72H |
probably benign |
Het |
Trgc2 |
T |
C |
13: 19,489,297 (GRCm39) |
Y145C |
unknown |
Het |
Trim25 |
T |
C |
11: 88,900,093 (GRCm39) |
L280P |
probably damaging |
Het |
Tsc22d4 |
A |
G |
5: 137,760,726 (GRCm39) |
D49G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,720,534 (GRCm39) |
|
probably benign |
Het |
Tyr |
T |
A |
7: 87,121,703 (GRCm39) |
H363L |
probably damaging |
Het |
Ubr5 |
A |
G |
15: 37,989,822 (GRCm39) |
S2020P |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,315,928 (GRCm39) |
D2069G |
probably damaging |
Het |
Vmn1r170 |
T |
C |
7: 23,305,963 (GRCm39) |
W122R |
probably benign |
Het |
Wdr7 |
G |
A |
18: 63,958,310 (GRCm39) |
|
probably null |
Het |
Ylpm1 |
T |
A |
12: 85,077,029 (GRCm39) |
H793Q |
probably damaging |
Het |
Zfp266 |
G |
A |
9: 20,410,659 (GRCm39) |
T506I |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,904,300 (GRCm39) |
S1410P |
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 |
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 |
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'- AGAGCTTCCATTGGGTCTGC -3'
(R):5'- CTGGGATCTGCATAGACTGTG -3'
Sequencing Primer
(F):5'- CCATTGGGTCTGCTGCTCTG -3'
(R):5'- GGAGTGTTATACCCTGGATCCC -3'
|
Posted On |
2016-08-04 |