Incidental Mutation 'IGL03096:Ccar1'
| ID |
418566 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ccar1
|
| Ensembl Gene |
ENSMUSG00000020074 |
| Gene Name |
cell division cycle and apoptosis regulator 1 |
| Synonyms |
9430036H15Rik, 2610511G16Rik, Carp1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
IGL03096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62600112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 606
(D606E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
| AlphaFold |
Q8CH18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020268
AA Change: D606E
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: D606E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
106 |
N/A |
INTRINSIC |
|
Pfam:S1-like
|
144 |
201 |
1.7e-34 |
PFAM |
|
low complexity region
|
236 |
254 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
311 |
358 |
N/A |
INTRINSIC |
|
DBC1
|
475 |
606 |
4.46e-90 |
SMART |
|
SAP
|
633 |
667 |
5.25e-9 |
SMART |
|
Blast:HDc
|
753 |
784 |
1e-7 |
BLAST |
|
coiled coil region
|
792 |
819 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
895 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
898 |
964 |
5e-3 |
SMART |
|
Blast:HDc
|
921 |
979 |
5e-17 |
BLAST |
|
coiled coil region
|
1029 |
1111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219527
AA Change: D606E
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219925
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
G |
11: 80,265,005 (GRCm39) |
F149S |
probably damaging |
Het |
| Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
| Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
| Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
| Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
| Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
| Fndc3a |
A |
T |
14: 72,836,559 (GRCm39) |
S67T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
| Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,161,908 (GRCm39) |
M161L |
probably benign |
Het |
| Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
| Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,374,104 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
| Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
| Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
| Six3 |
A |
G |
17: 85,929,365 (GRCm39) |
N233S |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
| Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
probably damaging |
Het |
|
| Other mutations in Ccar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Ccar1
|
APN |
10 |
62,589,013 (GRCm39) |
missense |
unknown |
|
|
IGL01291:Ccar1
|
APN |
10 |
62,592,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01364:Ccar1
|
APN |
10 |
62,612,653 (GRCm39) |
splice site |
probably null |
|
|
IGL01777:Ccar1
|
APN |
10 |
62,616,356 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01958:Ccar1
|
APN |
10 |
62,626,714 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Lonk
|
UTSW |
10 |
62,600,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
1mM(1):Ccar1
|
UTSW |
10 |
62,619,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU05:Ccar1
|
UTSW |
10 |
62,592,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Ccar1
|
UTSW |
10 |
62,616,236 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1295:Ccar1
|
UTSW |
10 |
62,619,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1573:Ccar1
|
UTSW |
10 |
62,586,434 (GRCm39) |
missense |
unknown |
|
|
R1585:Ccar1
|
UTSW |
10 |
62,586,780 (GRCm39) |
missense |
unknown |
|
|
R1633:Ccar1
|
UTSW |
10 |
62,586,793 (GRCm39) |
missense |
unknown |
|
|
R1840:Ccar1
|
UTSW |
10 |
62,599,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1854:Ccar1
|
UTSW |
10 |
62,600,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Ccar1
|
UTSW |
10 |
62,612,437 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2011:Ccar1
|
UTSW |
10 |
62,612,473 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2041:Ccar1
|
UTSW |
10 |
62,601,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Ccar1
|
UTSW |
10 |
62,581,066 (GRCm39) |
missense |
unknown |
|
|
R2327:Ccar1
|
UTSW |
10 |
62,600,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2932:Ccar1
|
UTSW |
10 |
62,612,538 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3040:Ccar1
|
UTSW |
10 |
62,592,273 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4647:Ccar1
|
UTSW |
10 |
62,583,196 (GRCm39) |
nonsense |
probably null |
|
|
R4829:Ccar1
|
UTSW |
10 |
62,581,114 (GRCm39) |
missense |
unknown |
|
|
R4887:Ccar1
|
UTSW |
10 |
62,588,997 (GRCm39) |
missense |
unknown |
|
|
R4888:Ccar1
|
UTSW |
10 |
62,588,997 (GRCm39) |
missense |
unknown |
|
|
R5000:Ccar1
|
UTSW |
10 |
62,586,784 (GRCm39) |
missense |
unknown |
|
|
R5207:Ccar1
|
UTSW |
10 |
62,589,060 (GRCm39) |
missense |
unknown |
|
|
R5214:Ccar1
|
UTSW |
10 |
62,606,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Ccar1
|
UTSW |
10 |
62,607,757 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6035:Ccar1
|
UTSW |
10 |
62,587,564 (GRCm39) |
missense |
unknown |
|
|
R6035:Ccar1
|
UTSW |
10 |
62,587,564 (GRCm39) |
missense |
unknown |
|
|
R6063:Ccar1
|
UTSW |
10 |
62,612,496 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6330:Ccar1
|
UTSW |
10 |
62,600,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Ccar1
|
UTSW |
10 |
62,600,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6828:Ccar1
|
UTSW |
10 |
62,600,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6943:Ccar1
|
UTSW |
10 |
62,582,715 (GRCm39) |
missense |
unknown |
|
|
R8054:Ccar1
|
UTSW |
10 |
62,583,215 (GRCm39) |
missense |
unknown |
|
|
R8089:Ccar1
|
UTSW |
10 |
62,626,770 (GRCm39) |
start codon destroyed |
probably null |
0.33 |
|
R8202:Ccar1
|
UTSW |
10 |
62,607,768 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8544:Ccar1
|
UTSW |
10 |
62,586,358 (GRCm39) |
missense |
unknown |
|
|
R8730:Ccar1
|
UTSW |
10 |
62,601,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Ccar1
|
UTSW |
10 |
62,621,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9645:Ccar1
|
UTSW |
10 |
62,602,369 (GRCm39) |
missense |
probably benign |
0.09 |
|
V8831:Ccar1
|
UTSW |
10 |
62,583,185 (GRCm39) |
missense |
unknown |
|
|
X0017:Ccar1
|
UTSW |
10 |
62,601,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation