Incidental Mutation 'IGL01129:Cuedc1'
| ID |
52350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cuedc1
|
| Ensembl Gene |
ENSMUSG00000018378 |
| Gene Name |
CUE domain containing 1 |
| Synonyms |
C330016O16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87989972-88084966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88074080 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 205
(S205T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018522]
[ENSMUST00000154812]
|
| AlphaFold |
Q8R3V6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018522
AA Change: S205T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000018522
Gene: ENSMUSG00000018378
AA Change: S205T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
33 |
N/A |
INTRINSIC |
|
CUE
|
50 |
92 |
6.55e-15 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
340 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132377
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133149
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142564
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154812
AA Change: S205T
PolyPhen 2
Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120867
Gene: ENSMUSG00000018378
AA Change: S205T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
33 |
N/A |
INTRINSIC |
|
CUE
|
50 |
92 |
6.55e-15 |
SMART |
|
low complexity region
|
94 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
222 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Srd5a3 |
A |
G |
5: 76,297,593 (GRCm39) |
|
probably benign |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Cuedc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Cuedc1
|
APN |
11 |
88,079,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02325:Cuedc1
|
APN |
11 |
88,060,999 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL03001:Cuedc1
|
APN |
11 |
88,073,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03245:Cuedc1
|
APN |
11 |
88,068,088 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Cuedc1
|
UTSW |
11 |
88,075,447 (GRCm39) |
splice site |
probably benign |
|
|
R0511:Cuedc1
|
UTSW |
11 |
88,074,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1013:Cuedc1
|
UTSW |
11 |
88,078,853 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1382:Cuedc1
|
UTSW |
11 |
88,068,189 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2004:Cuedc1
|
UTSW |
11 |
88,068,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Cuedc1
|
UTSW |
11 |
88,068,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5381:Cuedc1
|
UTSW |
11 |
88,078,812 (GRCm39) |
splice site |
probably null |
|
|
R5782:Cuedc1
|
UTSW |
11 |
88,060,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6282:Cuedc1
|
UTSW |
11 |
88,074,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Cuedc1
|
UTSW |
11 |
88,077,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7329:Cuedc1
|
UTSW |
11 |
88,060,692 (GRCm39) |
missense |
unknown |
|
|
R7985:Cuedc1
|
UTSW |
11 |
88,073,342 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8289:Cuedc1
|
UTSW |
11 |
88,073,381 (GRCm39) |
missense |
probably benign |
|
|
R9632:Cuedc1
|
UTSW |
11 |
88,060,955 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2013-06-21 |
Incidental Mutation