Incidental Mutation 'ANU05:Ccar1'
ID |
262499 |
Institutional Source |
Beutler Lab
|
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 # |
ANU05
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62592428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 708
(E708V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151895
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
AlphaFold |
Q8CH18 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020268
AA Change: E708V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000020268 Gene: ENSMUSG00000020074 AA Change: E708V
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: ENSMUST00000218437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218552
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218786
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219527
AA Change: E708V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220236
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,206,678 (GRCm39) |
K1513E |
probably damaging |
Het |
Acacb |
T |
A |
5: 114,363,931 (GRCm39) |
F1464Y |
probably benign |
Het |
Adgrg6 |
G |
A |
10: 14,286,274 (GRCm39) |
A1114V |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,566,438 (GRCm39) |
I975T |
possibly damaging |
Het |
Akap7 |
T |
C |
10: 25,147,451 (GRCm39) |
H93R |
probably damaging |
Het |
Arhgef11 |
T |
C |
3: 87,640,481 (GRCm39) |
W1213R |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,265 (GRCm39) |
S787P |
possibly damaging |
Het |
Col6a3 |
G |
A |
1: 90,730,014 (GRCm39) |
T1157I |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,038,308 (GRCm39) |
Y1046C |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,772,862 (GRCm39) |
S464P |
probably benign |
Het |
Dusp19 |
A |
G |
2: 80,454,618 (GRCm39) |
T113A |
probably benign |
Het |
Dync1h1 |
A |
C |
12: 110,615,538 (GRCm39) |
Y2957S |
probably benign |
Het |
Epdr1 |
T |
C |
13: 19,778,814 (GRCm39) |
Y94C |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,191 (GRCm39) |
L422Q |
probably benign |
Het |
Gca |
T |
A |
2: 62,520,787 (GRCm39) |
Y210* |
probably null |
Het |
Gpnmb |
T |
C |
6: 49,032,615 (GRCm39) |
V513A |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,415,786 (GRCm39) |
T192A |
probably damaging |
Het |
Isca1 |
T |
C |
13: 59,906,785 (GRCm39) |
T54A |
probably benign |
Het |
Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
L3mbtl1 |
T |
C |
2: 162,812,100 (GRCm39) |
V715A |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,045,865 (GRCm39) |
D257N |
probably damaging |
Het |
Lgr5 |
T |
C |
10: 115,314,439 (GRCm39) |
H166R |
probably damaging |
Het |
M6pr |
A |
G |
6: 122,289,218 (GRCm39) |
R9G |
probably benign |
Het |
Nmt2 |
T |
G |
2: 3,315,731 (GRCm39) |
S240R |
probably benign |
Het |
Npas3 |
A |
G |
12: 54,114,857 (GRCm39) |
E593G |
possibly damaging |
Het |
Or8k30 |
G |
A |
2: 86,339,513 (GRCm39) |
A237T |
possibly damaging |
Het |
Pank4 |
T |
C |
4: 155,059,103 (GRCm39) |
M412T |
probably damaging |
Het |
Psd |
A |
G |
19: 46,303,186 (GRCm39) |
V100A |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,235,087 (GRCm39) |
T28A |
probably damaging |
Het |
Rnpepl1 |
A |
T |
1: 92,847,468 (GRCm39) |
D685V |
probably benign |
Het |
Rrad |
T |
C |
8: 105,357,283 (GRCm39) |
E88G |
probably benign |
Het |
Sdk2 |
T |
A |
11: 113,733,906 (GRCm39) |
M846L |
probably benign |
Het |
Sparcl1 |
A |
T |
5: 104,242,581 (GRCm39) |
V36E |
possibly damaging |
Het |
Spmip5 |
A |
T |
19: 58,777,545 (GRCm39) |
H80Q |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,605,628 (GRCm39) |
E210K |
unknown |
Het |
Stk25 |
A |
T |
1: 93,551,145 (GRCm39) |
|
probably null |
Het |
Tacr3 |
A |
T |
3: 134,635,810 (GRCm39) |
Y338F |
probably damaging |
Het |
Tap2 |
A |
T |
17: 34,428,184 (GRCm39) |
Q286L |
probably benign |
Het |
Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
Tubgcp5 |
C |
A |
7: 55,458,277 (GRCm39) |
A396E |
possibly damaging |
Het |
Ube2o |
T |
C |
11: 116,430,960 (GRCm39) |
D980G |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,433 (GRCm39) |
M98V |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,935 (GRCm39) |
H236L |
probably benign |
Het |
Zfp521 |
T |
C |
18: 13,950,303 (GRCm39) |
H1217R |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,601,779 (GRCm39) |
F110I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACACCAAGAAGAACATGGAAGCAGT -3'
(R):5'- AAATGACAAAGAGTTAGGAGCCGTCTC -3'
Sequencing Primer
(F):5'- TGGAAGCAGTCAAAGAAACACTC -3'
(R):5'- gcagaaactagcctgatactcac -3'
|
Posted On |
2015-02-04 |