Incidental Mutation 'IGL00898:Ccar1'
ID |
28295 |
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 # |
IGL00898
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62589013 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 823
(K823N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
AlphaFold |
Q8CH18 |
Predicted Effect |
unknown
Transcript: ENSMUST00000020268
AA Change: K823N
|
SMART Domains |
Protein: ENSMUSP00000020268 Gene: ENSMUSG00000020074 AA Change: K823N
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: ENSMUST00000218552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218786
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219527
AA Change: K823N
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220236
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,783,690 (GRCm39) |
G956S |
probably damaging |
Het |
Alpk2 |
G |
T |
18: 65,483,644 (GRCm39) |
D121E |
probably benign |
Het |
Apc |
A |
G |
18: 34,450,147 (GRCm39) |
T2314A |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,636,810 (GRCm39) |
L990P |
probably damaging |
Het |
Celsr2 |
C |
T |
3: 108,321,195 (GRCm39) |
R539H |
possibly damaging |
Het |
Clca3b |
A |
G |
3: 144,550,389 (GRCm39) |
|
probably benign |
Het |
Cpxcr1 |
T |
C |
X: 115,387,407 (GRCm39) |
L106S |
possibly damaging |
Het |
Edc4 |
T |
A |
8: 106,607,755 (GRCm39) |
L16Q |
probably damaging |
Het |
Emc1 |
A |
G |
4: 139,098,941 (GRCm39) |
E808G |
probably damaging |
Het |
Epha6 |
A |
T |
16: 59,595,904 (GRCm39) |
|
probably null |
Het |
Epha7 |
G |
A |
4: 28,938,693 (GRCm39) |
R516Q |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,152,774 (GRCm39) |
S1077P |
probably benign |
Het |
Gm4952 |
C |
T |
19: 12,595,772 (GRCm39) |
T54I |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Il1b |
T |
C |
2: 129,209,253 (GRCm39) |
R126G |
possibly damaging |
Het |
Kin |
G |
A |
2: 10,085,515 (GRCm39) |
R25H |
probably damaging |
Het |
Kin |
T |
C |
2: 10,085,517 (GRCm39) |
W26R |
probably damaging |
Het |
Lamb3 |
A |
T |
1: 193,021,191 (GRCm39) |
T923S |
possibly damaging |
Het |
Lrp6 |
C |
T |
6: 134,456,702 (GRCm39) |
S854N |
probably damaging |
Het |
Ltv1 |
A |
G |
10: 13,058,031 (GRCm39) |
F258L |
probably damaging |
Het |
Mcm3ap |
T |
C |
10: 76,306,159 (GRCm39) |
S91P |
probably benign |
Het |
Msra |
A |
G |
14: 64,360,774 (GRCm39) |
I125T |
probably damaging |
Het |
Nr0b1 |
A |
T |
X: 85,236,077 (GRCm39) |
Q224L |
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,444,449 (GRCm39) |
D220V |
probably damaging |
Het |
Nup160 |
C |
A |
2: 90,523,450 (GRCm39) |
H351Q |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,282 (GRCm39) |
M220L |
probably benign |
Het |
Pcdh12 |
C |
A |
18: 38,414,510 (GRCm39) |
V872L |
probably benign |
Het |
Pcnx2 |
T |
A |
8: 126,614,324 (GRCm39) |
S376C |
probably damaging |
Het |
Pkd2 |
A |
G |
5: 104,631,001 (GRCm39) |
E475G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,458,392 (GRCm39) |
Y322C |
probably damaging |
Het |
Rgl2 |
T |
C |
17: 34,152,392 (GRCm39) |
I363T |
possibly damaging |
Het |
Rimklb |
G |
T |
6: 122,433,590 (GRCm39) |
Q187K |
possibly damaging |
Het |
Sectm1b |
A |
T |
11: 120,947,075 (GRCm39) |
W17R |
probably damaging |
Het |
Snu13 |
C |
A |
15: 81,926,516 (GRCm39) |
A60S |
probably benign |
Het |
Sox30 |
T |
A |
11: 45,882,727 (GRCm39) |
F586I |
possibly damaging |
Het |
Tnfsfm13 |
C |
A |
11: 69,575,127 (GRCm39) |
V220L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,593,117 (GRCm39) |
V20711E |
probably damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,604,969 (GRCm39) |
N94S |
possibly damaging |
Het |
Yipf2 |
T |
C |
9: 21,503,820 (GRCm39) |
|
probably null |
Het |
Zzef1 |
T |
C |
11: 72,765,999 (GRCm39) |
S1509P |
probably benign |
Het |
|
Other mutations in Ccar1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03096:Ccar1
|
APN |
10 |
62,600,112 (GRCm39) |
missense |
probably benign |
0.20 |
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 |
2013-04-17 |