Incidental Mutation 'R5821:Cir1'
ID |
449916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cir1
|
Ensembl Gene |
ENSMUSG00000041777 |
Gene Name |
corepressor interacting with RBPJ, 1 |
Synonyms |
CIR, 2810021A19Rik, 1700023B02Rik |
MMRRC Submission |
043401-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
73113445-73142922 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73142804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 10
(C10Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058615]
[ENSMUST00000090811]
[ENSMUST00000112050]
|
AlphaFold |
Q9DA19 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058615
AA Change: C10Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049834 Gene: ENSMUSG00000041777 AA Change: C10Y
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 |
probably benign
Transcript: ENSMUST00000090811
|
SMART Domains |
Protein: ENSMUSP00000088320 Gene: ENSMUSG00000008226
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C69
|
50 |
268 |
4.7e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112050
|
SMART Domains |
Protein: ENSMUSP00000107681 Gene: ENSMUSG00000008226
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C69
|
14 |
185 |
9.3e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136519
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139926
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154158
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155019
|
Meta Mutation Damage Score |
0.6482 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
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 |
IGL03019:Cir1
|
APN |
2 |
73,116,692 (GRCm39) |
missense |
unknown |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTGTTATCAAACCATGCGTG -3'
(R):5'- AGAAAGTGCTGGGCTCGAAC -3'
Sequencing Primer
(F):5'- AACCATGCGTGGGTCTCC -3'
(R):5'- TCGGATCGAAGCTGACGCAG -3'
|
Posted On |
2016-12-20 |