Incidental Mutation 'R9547:Cand2'
ID |
720173 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cand2
|
Ensembl Gene |
ENSMUSG00000030319 |
Gene Name |
cullin associated and neddylation dissociated 2 (putative) |
Synonyms |
Tp120b, 2210404G23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9547 (G1)
|
Quality Score |
191.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
115751518-115782516 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115759757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 143
(A143T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075995]
|
AlphaFold |
Q6ZQ73 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075995
AA Change: A143T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075377 Gene: ENSMUSG00000030319 AA Change: A143T
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm3 |
G |
T |
3: 59,772,656 (GRCm39) |
M53I |
probably benign |
Het |
Abtb1 |
C |
T |
6: 88,815,917 (GRCm39) |
V185M |
probably damaging |
Het |
Acod1 |
A |
T |
14: 103,292,294 (GRCm39) |
S273C |
probably benign |
Het |
Aifm3 |
T |
C |
16: 17,317,604 (GRCm39) |
V75A |
probably benign |
Het |
Anks1 |
T |
C |
17: 28,270,748 (GRCm39) |
L845P |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,311 (GRCm39) |
K736E |
possibly damaging |
Het |
Atad2 |
A |
G |
15: 57,989,973 (GRCm39) |
S168P |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,380,841 (GRCm39) |
H116L |
probably benign |
Het |
Chd9 |
G |
A |
8: 91,683,186 (GRCm39) |
R542H |
unknown |
Het |
Crnkl1 |
T |
C |
2: 145,772,550 (GRCm39) |
M176V |
possibly damaging |
Het |
Dnah14 |
A |
C |
1: 181,420,992 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,624,805 (GRCm39) |
E3744G |
probably damaging |
Het |
Ednrb |
T |
C |
14: 104,080,459 (GRCm39) |
I152V |
probably benign |
Het |
Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,911,142 (GRCm39) |
I1620N |
possibly damaging |
Het |
Fbxo4 |
G |
A |
15: 3,998,493 (GRCm39) |
P322S |
probably damaging |
Het |
Fbxw10 |
G |
T |
11: 62,767,647 (GRCm39) |
V828F |
possibly damaging |
Het |
Gm7579 |
CTGTGTG |
CTGTG |
7: 141,765,736 (GRCm39) |
|
probably null |
Het |
Gmip |
T |
C |
8: 70,273,381 (GRCm39) |
S891P |
possibly damaging |
Het |
Grb10 |
A |
G |
11: 11,893,919 (GRCm39) |
I389T |
probably benign |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Hhatl |
A |
G |
9: 121,618,649 (GRCm39) |
Y118H |
probably damaging |
Het |
Ighv1-69 |
A |
G |
12: 115,586,885 (GRCm39) |
F83L |
possibly damaging |
Het |
Intu |
G |
A |
3: 40,608,536 (GRCm39) |
V183I |
probably benign |
Het |
Ipo4 |
A |
G |
14: 55,870,789 (GRCm39) |
|
probably null |
Het |
Kdm4c |
A |
C |
4: 74,323,104 (GRCm39) |
D1012A |
possibly damaging |
Het |
Klrc2 |
C |
G |
6: 129,633,812 (GRCm39) |
A188P |
probably benign |
Het |
Lipc |
T |
C |
9: 70,728,146 (GRCm39) |
D104G |
unknown |
Het |
Lrrc63 |
A |
T |
14: 75,344,828 (GRCm39) |
L420M |
probably damaging |
Het |
Ly75 |
C |
A |
2: 60,161,069 (GRCm39) |
|
probably null |
Het |
Mrpl50 |
T |
A |
4: 49,514,338 (GRCm39) |
H111L |
probably damaging |
Het |
Mtmr9 |
A |
G |
14: 63,779,855 (GRCm39) |
I78T |
possibly damaging |
Het |
Npepl1 |
A |
G |
2: 173,962,030 (GRCm39) |
D304G |
probably null |
Het |
Nphs1 |
C |
T |
7: 30,180,875 (GRCm39) |
S1093F |
probably benign |
Het |
Or2n1d |
G |
T |
17: 38,646,341 (GRCm39) |
V98F |
possibly damaging |
Het |
Or5k3 |
T |
C |
16: 58,970,107 (GRCm39) |
I298T |
possibly damaging |
Het |
Or8g24 |
G |
A |
9: 38,989,927 (GRCm39) |
T38I |
probably damaging |
Het |
Pcdh18 |
A |
T |
3: 49,709,506 (GRCm39) |
I603K |
possibly damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,484,174 (GRCm39) |
Y818N |
unknown |
Het |
Phf10 |
A |
G |
17: 15,166,459 (GRCm39) |
|
probably null |
Het |
Phgdh |
A |
G |
3: 98,241,950 (GRCm39) |
S55P |
probably damaging |
Het |
Poll |
G |
T |
19: 45,546,359 (GRCm39) |
P227H |
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,861,561 (GRCm39) |
S576R |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,214,087 (GRCm39) |
I192V |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 91,977,873 (GRCm39) |
D1038G |
probably benign |
Het |
Snx18 |
A |
G |
13: 113,753,754 (GRCm39) |
M393T |
possibly damaging |
Het |
Srsf11 |
A |
G |
3: 157,717,735 (GRCm39) |
C448R |
unknown |
Het |
Sv2c |
A |
G |
13: 96,185,008 (GRCm39) |
I223T |
probably benign |
Het |
Tbc1d1 |
T |
C |
5: 64,330,950 (GRCm39) |
V43A |
possibly damaging |
Het |
Tex21 |
T |
C |
12: 76,253,591 (GRCm39) |
T441A |
probably damaging |
Het |
Thnsl2 |
T |
A |
6: 71,116,810 (GRCm39) |
D114V |
probably damaging |
Het |
Trpm2 |
A |
G |
10: 77,748,467 (GRCm39) |
V1401A |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,049,588 (GRCm39) |
S769P |
probably benign |
Het |
Tut4 |
A |
G |
4: 108,370,429 (GRCm39) |
D776G |
probably benign |
Het |
Uba5 |
A |
G |
9: 103,931,567 (GRCm39) |
S222P |
probably damaging |
Het |
Ublcp1 |
T |
C |
11: 44,347,251 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn1r216 |
A |
T |
13: 23,283,455 (GRCm39) |
D46V |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,112,735 (GRCm39) |
F789I |
probably damaging |
Het |
Zfp266 |
A |
G |
9: 20,411,746 (GRCm39) |
S144P |
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 |
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 |
R9676:Cand2
|
UTSW |
6 |
115,769,122 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGATCCCTGTAGTTGTTC -3'
(R):5'- CTGCTTTCTTTGCAAGGCTG -3'
Sequencing Primer
(F):5'- AAGACTTGGGTCAGCCTTGGAC -3'
(R):5'- CTGCTGGGTGACTAAGCACAG -3'
|
Posted On |
2022-07-18 |