Incidental Mutation 'IGL00164:Cuedc2'
ID |
692 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cuedc2
|
Ensembl Gene |
ENSMUSG00000036748 |
Gene Name |
CUE domain containing 2 |
Synonyms |
3010002G01Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.300)
|
Stock # |
IGL00164
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
46318251-46327141 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46320359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 71
(I71F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129589
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026256]
[ENSMUST00000041391]
[ENSMUST00000051234]
[ENSMUST00000096029]
[ENSMUST00000167861]
[ENSMUST00000177667]
[ENSMUST00000224447]
[ENSMUST00000223917]
|
AlphaFold |
Q9CXX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026256
|
SMART Domains |
Protein: ENSMUSP00000026256 Gene: ENSMUSG00000025226
Domain | Start | End | E-Value | Type |
Pfam:F-box
|
18 |
63 |
1.9e-6 |
PFAM |
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
LRR
|
113 |
138 |
1.01e1 |
SMART |
LRR
|
139 |
164 |
1.89e-1 |
SMART |
LRR
|
165 |
190 |
2.27e-4 |
SMART |
LRR
|
192 |
217 |
3.47e0 |
SMART |
LRR
|
218 |
243 |
2.57e-3 |
SMART |
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041391
|
SMART Domains |
Protein: ENSMUSP00000039728 Gene: ENSMUSG00000037126
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
Sec7
|
519 |
708 |
5.08e-75 |
SMART |
low complexity region
|
714 |
724 |
N/A |
INTRINSIC |
low complexity region
|
736 |
744 |
N/A |
INTRINSIC |
PH
|
757 |
871 |
1.87e-13 |
SMART |
Blast:Sec7
|
900 |
952 |
1e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051234
AA Change: I71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053469 Gene: ENSMUSG00000036748 AA Change: I71F
Domain | Start | End | E-Value | Type |
Pfam:CUE
|
144 |
183 |
4.6e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000096029
|
SMART Domains |
Protein: ENSMUSP00000093729 Gene: ENSMUSG00000037126
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
63 |
N/A |
INTRINSIC |
low complexity region
|
79 |
99 |
N/A |
INTRINSIC |
low complexity region
|
329 |
368 |
N/A |
INTRINSIC |
low complexity region
|
419 |
431 |
N/A |
INTRINSIC |
low complexity region
|
445 |
466 |
N/A |
INTRINSIC |
Sec7
|
520 |
709 |
5.08e-75 |
SMART |
low complexity region
|
715 |
725 |
N/A |
INTRINSIC |
low complexity region
|
737 |
745 |
N/A |
INTRINSIC |
PH
|
758 |
872 |
1.87e-13 |
SMART |
Blast:Sec7
|
901 |
953 |
1e-6 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167861
AA Change: I71F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129589 Gene: ENSMUSG00000036748 AA Change: I71F
Domain | Start | End | E-Value | Type |
Pfam:CUE
|
144 |
183 |
5.7e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177667
|
SMART Domains |
Protein: ENSMUSP00000137489 Gene: ENSMUSG00000025226
Domain | Start | End | E-Value | Type |
Pfam:F-box
|
18 |
63 |
2.1e-6 |
PFAM |
low complexity region
|
76 |
84 |
N/A |
INTRINSIC |
LRR
|
113 |
138 |
1.01e1 |
SMART |
LRR
|
139 |
164 |
1.89e-1 |
SMART |
LRR
|
165 |
190 |
2.27e-4 |
SMART |
LRR
|
192 |
217 |
3.47e0 |
SMART |
LRR
|
218 |
243 |
2.57e-3 |
SMART |
LRR
|
244 |
269 |
2.05e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224444
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224447
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223917
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
Other mutations in Cuedc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Cuedc2
|
APN |
19 |
46,321,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01733:Cuedc2
|
APN |
19 |
46,321,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R1656:Cuedc2
|
UTSW |
19 |
46,320,427 (GRCm39) |
missense |
probably damaging |
0.99 |
R1778:Cuedc2
|
UTSW |
19 |
46,320,079 (GRCm39) |
missense |
probably benign |
0.00 |
R2905:Cuedc2
|
UTSW |
19 |
46,321,088 (GRCm39) |
missense |
probably benign |
0.16 |
R5801:Cuedc2
|
UTSW |
19 |
46,319,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R5874:Cuedc2
|
UTSW |
19 |
46,319,824 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8511:Cuedc2
|
UTSW |
19 |
46,319,358 (GRCm39) |
critical splice donor site |
probably null |
|
R9483:Cuedc2
|
UTSW |
19 |
46,319,399 (GRCm39) |
missense |
probably benign |
0.10 |
R9742:Cuedc2
|
UTSW |
19 |
46,319,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2011-07-12 |