Incidental Mutation 'R1013:Cuedc1'
| ID |
95903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cuedc1
|
| Ensembl Gene |
ENSMUSG00000018378 |
| Gene Name |
CUE domain containing 1 |
| Synonyms |
C330016O16Rik |
| MMRRC Submission |
039117-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87989972-88084966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88078853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 327
(A327V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018522]
[ENSMUST00000154812]
|
| AlphaFold |
Q8R3V6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018522
AA Change: A327V
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000018522
Gene: ENSMUSG00000018378
AA Change: A327V
| 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 |
probably benign
Transcript: ENSMUST00000154812
|
| SMART Domains |
Protein: ENSMUSP00000120867
Gene: ENSMUSG00000018378
| 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 |
|
| Meta Mutation Damage Score |
0.0802 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.4%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930527J03Rik |
ACCC |
ACC |
1: 178,276,503 (GRCm38) |
|
noncoding transcript |
Het |
| Bclaf1 |
T |
A |
10: 20,207,822 (GRCm39) |
|
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,884,377 (GRCm39) |
|
probably benign |
Het |
| C8a |
T |
C |
4: 104,685,236 (GRCm39) |
I336V |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,692,621 (GRCm39) |
V374D |
probably damaging |
Het |
| Col28a1 |
A |
G |
6: 7,999,452 (GRCm39) |
|
probably benign |
Het |
| Cul2 |
C |
A |
18: 3,425,535 (GRCm39) |
Y378* |
probably null |
Het |
| Dnaaf10 |
A |
G |
11: 17,178,183 (GRCm39) |
K226E |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TG |
TGNG |
19: 11,489,147 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,310,438 (GRCm39) |
R893G |
probably damaging |
Het |
| Il10rb |
A |
G |
16: 91,211,581 (GRCm39) |
N140D |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,150,847 (GRCm39) |
M818V |
probably benign |
Het |
| Kyat3 |
T |
C |
3: 142,432,007 (GRCm39) |
I245T |
probably damaging |
Het |
| Lck |
C |
T |
4: 129,451,920 (GRCm39) |
C20Y |
probably damaging |
Het |
| Mcm6 |
T |
G |
1: 128,276,778 (GRCm39) |
S271R |
probably benign |
Het |
| Megf10 |
A |
G |
18: 57,394,291 (GRCm39) |
I472V |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
| Mrpl11 |
T |
C |
19: 5,013,651 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,977 (GRCm39) |
V298M |
probably damaging |
Het |
| Or8k25 |
G |
A |
2: 86,244,319 (GRCm39) |
P26S |
possibly damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,020 (GRCm39) |
D270G |
probably damaging |
Het |
| Plg |
G |
A |
17: 12,597,608 (GRCm39) |
|
probably benign |
Het |
| Ppp3cb |
T |
A |
14: 20,574,072 (GRCm39) |
E255D |
probably benign |
Het |
| Psenen |
A |
G |
7: 30,261,802 (GRCm39) |
F38S |
possibly damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Sorl1 |
T |
C |
9: 41,913,855 (GRCm39) |
N1358S |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,267,102 (GRCm39) |
P426S |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,424,831 (GRCm39) |
M1552T |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,614 (GRCm39) |
D79G |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,333,664 (GRCm39) |
|
probably benign |
Het |
| Zfp354a |
T |
C |
11: 50,951,677 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
C |
13: 67,767,626 (GRCm39) |
I868V |
probably benign |
Het |
|
| Other mutations in Cuedc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01129:Cuedc1
|
APN |
11 |
88,074,080 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGACCCATAACCAGCGGGGATG -3'
(R):5'- TCTCCCAAAATGCAGATGACTTAAGGC -3'
Sequencing Primer
(F):5'- CAGGGAAAATTTCCGATGACTC -3'
(R):5'- GGGTTTCCTGGTTCACAAATCAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation