Incidental Mutation 'R1633:Ccar1'
| ID |
172927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccar1
|
| Ensembl Gene |
ENSMUSG00000020074 |
| Gene Name |
cell division cycle and apoptosis regulator 1 |
| Synonyms |
9430036H15Rik, 2610511G16Rik, Carp1 |
| MMRRC Submission |
039670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.944)
|
| Stock # |
R1633 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62586793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 882
(R882G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
| AlphaFold |
Q8CH18 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000020268
AA Change: R882G
|
| SMART Domains |
Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: R882G
| 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: R882G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220236
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 93.9%
- 20x: 83.9%
|
| Validation Efficiency |
94% (68/72) |
| Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
C |
T |
1: 127,681,592 (GRCm39) |
A185V |
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,219,224 (GRCm39) |
|
probably benign |
Het |
| Arel1 |
A |
G |
12: 84,973,057 (GRCm39) |
F580S |
probably damaging |
Het |
| Arhgef19 |
T |
C |
4: 140,965,871 (GRCm39) |
|
probably benign |
Het |
| Bpifb3 |
T |
A |
2: 153,764,504 (GRCm39) |
L132Q |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,525,114 (GRCm39) |
D516E |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,085,736 (GRCm39) |
E1196G |
probably benign |
Het |
| Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,435,166 (GRCm39) |
S231T |
probably damaging |
Het |
| Dock8 |
A |
G |
19: 25,028,927 (GRCm39) |
T44A |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,253,869 (GRCm39) |
S536P |
probably damaging |
Het |
| Eif5 |
T |
A |
12: 111,506,721 (GRCm39) |
N104K |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,671,680 (GRCm39) |
Y438C |
probably damaging |
Het |
| Ess2 |
A |
G |
16: 17,727,831 (GRCm39) |
V116A |
probably benign |
Het |
| Galnt4 |
T |
C |
10: 98,945,814 (GRCm39) |
V513A |
possibly damaging |
Het |
| Gdpd5 |
T |
C |
7: 99,097,720 (GRCm39) |
I172T |
probably benign |
Het |
| Ggt7 |
C |
T |
2: 155,344,608 (GRCm39) |
G245D |
probably damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,028 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
G |
A |
7: 55,879,117 (GRCm39) |
G4669R |
probably null |
Het |
| Hydin |
T |
A |
8: 111,233,614 (GRCm39) |
D1817E |
probably benign |
Het |
| Igf2r |
A |
C |
17: 12,945,196 (GRCm39) |
N359K |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,898,586 (GRCm39) |
F1722L |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,639,355 (GRCm39) |
E406V |
possibly damaging |
Het |
| Lamc2 |
A |
T |
1: 153,017,444 (GRCm39) |
C514* |
probably null |
Het |
| Mepe |
G |
T |
5: 104,485,540 (GRCm39) |
V227F |
probably benign |
Het |
| Nadk |
C |
T |
4: 155,661,642 (GRCm39) |
T56I |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,578,539 (GRCm39) |
V84I |
possibly damaging |
Het |
| Nipal3 |
C |
A |
4: 135,174,659 (GRCm39) |
R364L |
probably benign |
Het |
| Nkx2-9 |
T |
C |
12: 56,659,766 (GRCm39) |
R27G |
probably benign |
Het |
| Noc2l |
T |
A |
4: 156,329,750 (GRCm39) |
S600T |
probably benign |
Het |
| Or1l4b |
T |
A |
2: 37,036,983 (GRCm39) |
I253N |
probably damaging |
Het |
| Or1o3 |
T |
A |
17: 37,574,553 (GRCm39) |
M1L |
probably benign |
Het |
| Or2c1 |
A |
C |
16: 3,657,396 (GRCm39) |
K186N |
probably damaging |
Het |
| Pax6 |
A |
T |
2: 105,522,063 (GRCm39) |
E240V |
probably damaging |
Het |
| Pdilt |
T |
G |
7: 119,087,217 (GRCm39) |
T478P |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,629,619 (GRCm39) |
I25F |
probably damaging |
Het |
| Rad50 |
C |
T |
11: 53,583,686 (GRCm39) |
R365Q |
probably benign |
Het |
| Rdh10 |
A |
G |
1: 16,198,420 (GRCm39) |
E186G |
possibly damaging |
Het |
| Rdh12 |
A |
T |
12: 79,265,498 (GRCm39) |
E224V |
probably damaging |
Het |
| Reck |
T |
C |
4: 43,922,964 (GRCm39) |
V413A |
possibly damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,696 (GRCm39) |
I1392V |
probably benign |
Het |
| Simc1 |
G |
A |
13: 54,673,044 (GRCm39) |
G464D |
probably benign |
Het |
| Srf |
A |
T |
17: 46,862,534 (GRCm39) |
V318E |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,872,337 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
C |
15: 34,959,206 (GRCm39) |
D322G |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,430,986 (GRCm39) |
|
probably benign |
Het |
| Sult2a1 |
A |
G |
7: 13,535,351 (GRCm39) |
I234T |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,299,388 (GRCm39) |
F956L |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,631,771 (GRCm39) |
I910N |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,471,103 (GRCm39) |
S505* |
probably null |
Het |
| Tmem63a |
T |
A |
1: 180,776,391 (GRCm39) |
V67E |
probably damaging |
Het |
| Tram2 |
A |
T |
1: 21,074,146 (GRCm39) |
V264E |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,854 (GRCm39) |
C106* |
probably null |
Het |
| Tspyl5 |
T |
A |
15: 33,686,791 (GRCm39) |
K385* |
probably null |
Het |
| Vezt |
T |
A |
10: 93,820,138 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,687,042 (GRCm39) |
C808R |
possibly damaging |
Het |
| Wdfy3 |
A |
C |
5: 102,129,414 (GRCm39) |
V4G |
probably damaging |
Het |
| Wdr95 |
A |
T |
5: 149,516,637 (GRCm39) |
I493F |
probably damaging |
Het |
| Zfhx4 |
A |
T |
3: 5,465,473 (GRCm39) |
N1877I |
probably damaging |
Het |
| Zfp180 |
A |
G |
7: 23,804,226 (GRCm39) |
D215G |
probably benign |
Het |
| Zfp442 |
A |
T |
2: 150,250,260 (GRCm39) |
Y490* |
probably null |
Het |
| Zfp804b |
A |
G |
5: 7,229,513 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCGAGAAAGATGCAGTCCAA -3'
(R):5'- CAGTGGCTAGTGTGGAAGCCAG -3'
Sequencing Primer
(F):5'- AGCAGATCCCTGTTAACTGTGAC -3'
(R):5'- acgcctttaatcccagcac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation