Incidental Mutation 'IGL01777:Ccar1'
| ID |
154126 |
| 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: 0.944)
|
| Stock # |
IGL01777
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62616356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 125
(I125V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000217768]
[ENSMUST00000218229]
[ENSMUST00000218946]
[ENSMUST00000219527]
|
| AlphaFold |
Q8CH18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020268
AA Change: I125V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: I125V
| 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 |
possibly damaging
Transcript: ENSMUST00000217768
AA Change: I125V
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218355
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218946
AA Change: I125V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219527
AA Change: I125V
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,205 (GRCm39) |
V240A |
possibly damaging |
Het |
| Aftph |
A |
T |
11: 20,676,554 (GRCm39) |
C352S |
possibly damaging |
Het |
| Cand2 |
T |
C |
6: 115,769,818 (GRCm39) |
V876A |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,713,141 (GRCm39) |
M1858L |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,561,594 (GRCm39) |
N2134K |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,067,406 (GRCm39) |
I96V |
probably benign |
Het |
| Dst |
A |
G |
1: 34,238,478 (GRCm39) |
T3727A |
probably benign |
Het |
| Elavl4 |
T |
A |
4: 110,063,858 (GRCm39) |
|
probably null |
Het |
| Eno2 |
C |
T |
6: 124,743,600 (GRCm39) |
G113D |
probably damaging |
Het |
| Esf1 |
A |
C |
2: 139,999,092 (GRCm39) |
|
probably null |
Het |
| Frmd4b |
T |
C |
6: 97,272,905 (GRCm39) |
D783G |
probably benign |
Het |
| Grin2a |
C |
T |
16: 9,461,994 (GRCm39) |
V713I |
probably benign |
Het |
| Impa1 |
C |
T |
3: 10,388,008 (GRCm39) |
G138D |
probably damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,523,736 (GRCm39) |
T1079A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,760,302 (GRCm39) |
S549P |
probably damaging |
Het |
| Magoh |
C |
A |
4: 107,740,373 (GRCm39) |
Q86K |
probably benign |
Het |
| Moxd1 |
C |
A |
10: 24,128,494 (GRCm39) |
T182K |
probably benign |
Het |
| Or5p55 |
A |
G |
7: 107,566,709 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pramel25 |
T |
G |
4: 143,521,688 (GRCm39) |
C435G |
possibly damaging |
Het |
| Rab3b |
A |
T |
4: 108,786,607 (GRCm39) |
Q119L |
probably damaging |
Het |
| Snap47 |
T |
A |
11: 59,312,477 (GRCm39) |
|
probably null |
Het |
| Taar3 |
A |
G |
10: 23,825,903 (GRCm39) |
R150G |
probably benign |
Het |
| Tas2r102 |
C |
T |
6: 132,739,815 (GRCm39) |
T241I |
probably damaging |
Het |
| Tas2r114 |
C |
T |
6: 131,666,664 (GRCm39) |
W121* |
probably null |
Het |
| Trak1 |
G |
A |
9: 121,260,626 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
C |
16: 4,890,013 (GRCm39) |
V426A |
possibly damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,204 (GRCm39) |
L7P |
probably benign |
Het |
| Vmn2r43 |
T |
C |
7: 8,258,272 (GRCm39) |
I314V |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,696 (GRCm39) |
S149A |
probably benign |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation