Incidental Mutation 'IGL03019:Cir1'
ID |
407992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cir1
|
Ensembl Gene |
ENSMUSG00000041777 |
Gene Name |
corepressor interacting with RBPJ, 1 |
Synonyms |
CIR, 2810021A19Rik, 1700023B02Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03019
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
73113445-73142922 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73116692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 223
(K223E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058615]
|
AlphaFold |
Q9DA19 |
Predicted Effect |
unknown
Transcript: ENSMUST00000058615
AA Change: K223E
|
SMART Domains |
Protein: ENSMUSP00000049834 Gene: ENSMUSG00000041777 AA Change: K223E
Domain | Start | End | E-Value | Type |
Cir_N
|
13 |
49 |
6.03e-14 |
SMART |
low complexity region
|
79 |
97 |
N/A |
INTRINSIC |
Blast:ZnF_C2HC
|
127 |
145 |
9e-6 |
BLAST |
coiled coil region
|
213 |
261 |
N/A |
INTRINSIC |
low complexity region
|
385 |
412 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147133
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
A |
9: 121,738,248 (GRCm39) |
Y208N |
probably benign |
Het |
Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
Drg2 |
T |
C |
11: 60,347,421 (GRCm39) |
Y37H |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
Izumo4 |
A |
G |
10: 80,539,680 (GRCm39) |
|
probably benign |
Het |
Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
Lce1k |
A |
C |
3: 92,714,086 (GRCm39) |
C33G |
unknown |
Het |
Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
Zfp276 |
C |
A |
8: 123,994,673 (GRCm39) |
T580N |
probably damaging |
Het |
Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
Other mutations in Cir1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01304:Cir1
|
APN |
2 |
73,118,068 (GRCm39) |
splice site |
probably null |
|
IGL02969:Cir1
|
APN |
2 |
73,134,120 (GRCm39) |
missense |
probably null |
1.00 |
magellanic
|
UTSW |
2 |
73,136,757 (GRCm39) |
splice site |
probably benign |
|
penguin
|
UTSW |
2 |
73,142,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Cir1
|
UTSW |
2 |
73,140,799 (GRCm39) |
critical splice donor site |
probably null |
|
R1052:Cir1
|
UTSW |
2 |
73,117,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R1366:Cir1
|
UTSW |
2 |
73,136,757 (GRCm39) |
splice site |
probably benign |
|
R1752:Cir1
|
UTSW |
2 |
73,140,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R2140:Cir1
|
UTSW |
2 |
73,142,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R4740:Cir1
|
UTSW |
2 |
73,142,867 (GRCm39) |
unclassified |
probably benign |
|
R4954:Cir1
|
UTSW |
2 |
73,140,848 (GRCm39) |
missense |
probably benign |
0.40 |
R5096:Cir1
|
UTSW |
2 |
73,134,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Cir1
|
UTSW |
2 |
73,114,847 (GRCm39) |
nonsense |
probably null |
|
R5821:Cir1
|
UTSW |
2 |
73,142,804 (GRCm39) |
missense |
probably damaging |
1.00 |
R7006:Cir1
|
UTSW |
2 |
73,140,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R7183:Cir1
|
UTSW |
2 |
73,116,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Cir1
|
UTSW |
2 |
73,142,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R7724:Cir1
|
UTSW |
2 |
73,137,234 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7921:Cir1
|
UTSW |
2 |
73,140,799 (GRCm39) |
critical splice donor site |
probably null |
|
R8922:Cir1
|
UTSW |
2 |
73,118,053 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9514:Cir1
|
UTSW |
2 |
73,142,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R9746:Cir1
|
UTSW |
2 |
73,134,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |