Incidental Mutation 'R5207:Ccar1'
ID |
402091 |
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 |
042782-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R5207 (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 62589060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 808
(R808G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
AlphaFold |
Q8CH18 |
Predicted Effect |
unknown
Transcript: ENSMUST00000020268
AA Change: R808G
|
SMART Domains |
Protein: ENSMUSP00000020268 Gene: ENSMUSG00000020074 AA Change: R808G
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: R808G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220236
|
Meta Mutation Damage Score |
0.0626 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (60/62) |
Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
Piwil2 |
T |
C |
14: 70,629,966 (GRCm39) |
K683E |
probably damaging |
Het |
Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
possibly 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 |
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 |
|
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'- CTCAACATTTTGTTACCATATAGAGGT -3'
(R):5'- TAATGACTTTTGCTGGACTTATTCA -3'
Sequencing Primer
(F):5'- GTCTTTATCGTCGCCTGA -3'
(R):5'- CATTGGCAGATACACGGGTTC -3'
|
Posted On |
2016-07-22 |