Incidental Mutation 'R8730:Ccar1'
| ID |
662711 |
| 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 |
068578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R8730 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62579707-62628065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62601191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 491
(K491E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020268]
[ENSMUST00000219527]
|
| AlphaFold |
Q8CH18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020268
AA Change: K491E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: K491E
| 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 |
probably damaging
Transcript: ENSMUST00000219527
AA Change: K491E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(45) : Targeted, other(4) Gene trapped(41)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
C |
5: 8,208,830 (GRCm39) |
S200A |
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,556 (GRCm39) |
R409H |
probably benign |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,506 (GRCm39) |
V548M |
possibly damaging |
Het |
| Ampd1 |
T |
A |
3: 102,992,676 (GRCm39) |
C143* |
probably null |
Het |
| Angpt4 |
A |
G |
2: 151,771,467 (GRCm39) |
Q261R |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,457,501 (GRCm39) |
M180K |
possibly damaging |
Het |
| Dcst2 |
C |
T |
3: 89,280,553 (GRCm39) |
R620C |
probably damaging |
Het |
| Dcun1d4 |
T |
A |
5: 73,688,832 (GRCm39) |
|
probably benign |
Het |
| Dhrs1 |
T |
A |
14: 55,980,978 (GRCm39) |
T103S |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,384,087 (GRCm39) |
L1043P |
possibly damaging |
Het |
| Eci3 |
A |
T |
13: 35,144,405 (GRCm39) |
N19K |
probably benign |
Het |
| Ets1 |
A |
T |
9: 32,649,614 (GRCm39) |
D317V |
probably damaging |
Het |
| Fem1c |
T |
C |
18: 46,638,668 (GRCm39) |
I445V |
possibly damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,492,484 (GRCm39) |
I176M |
possibly damaging |
Het |
| Gm6563 |
A |
T |
19: 23,653,429 (GRCm39) |
K73I |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,532,140 (GRCm39) |
R252G |
possibly damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,651 (GRCm39) |
L158P |
probably damaging |
Het |
| Hand2 |
T |
A |
8: 57,775,468 (GRCm39) |
V176E |
probably benign |
Het |
| Hey2 |
G |
T |
10: 30,718,622 (GRCm39) |
T8K |
possibly damaging |
Het |
| Igsf3 |
T |
C |
3: 101,334,532 (GRCm39) |
I203T |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,739,066 (GRCm39) |
|
probably null |
Het |
| Kcnn2 |
A |
G |
18: 45,725,139 (GRCm39) |
I212V |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,403,708 (GRCm39) |
V740L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,797 (GRCm39) |
I362T |
probably damaging |
Het |
| Klhdc9 |
C |
T |
1: 171,186,488 (GRCm39) |
G316D |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,317,738 (GRCm39) |
E169G |
probably damaging |
Het |
| Muc20 |
G |
T |
16: 32,599,490 (GRCm39) |
H645N |
probably benign |
Het |
| Nrm |
A |
G |
17: 36,175,423 (GRCm39) |
T52A |
probably benign |
Het |
| Or13a23-ps1 |
T |
C |
7: 140,119,197 (GRCm39) |
S256P |
unknown |
Het |
| Or14c41 |
A |
G |
7: 86,235,259 (GRCm39) |
K259E |
probably benign |
Het |
| Or2y3 |
A |
T |
17: 38,392,925 (GRCm39) |
*315K |
probably null |
Het |
| Or4c105 |
T |
A |
2: 88,648,043 (GRCm39) |
M176K |
possibly damaging |
Het |
| Or4g7 |
T |
A |
2: 111,309,934 (GRCm39) |
D268E |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,348 (GRCm39) |
V221A |
probably benign |
Het |
| Pde11a |
A |
T |
2: 75,889,334 (GRCm39) |
N713K |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,405,944 (GRCm39) |
L65S |
probably damaging |
Het |
| Prox1 |
A |
G |
1: 189,894,238 (GRCm39) |
V69A |
possibly damaging |
Het |
| Prss39 |
A |
G |
1: 34,539,198 (GRCm39) |
H146R |
probably damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,702 (GRCm39) |
F44I |
possibly damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,795 (GRCm39) |
D581G |
probably benign |
Het |
| Rims2 |
A |
G |
15: 39,381,239 (GRCm39) |
T1057A |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,786,495 (GRCm39) |
G836R |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,057 (GRCm39) |
S155T |
possibly damaging |
Het |
| Slc35d1 |
T |
C |
4: 103,030,951 (GRCm39) |
Y308C |
|
Het |
| Slfn9 |
T |
C |
11: 82,878,194 (GRCm39) |
I312V |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,130,461 (GRCm39) |
L351Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,601,590 (GRCm39) |
D157G |
probably benign |
Het |
| Tmprss11g |
C |
T |
5: 86,638,837 (GRCm39) |
|
probably null |
Het |
| Tnpo1 |
A |
T |
13: 98,989,916 (GRCm39) |
I745N |
probably benign |
Het |
| Uggt1 |
C |
A |
1: 36,236,624 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
G |
A |
3: 125,732,105 (GRCm39) |
|
probably benign |
Het |
| Urod |
T |
C |
4: 116,850,729 (GRCm39) |
|
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,838 (GRCm39) |
Y276* |
probably null |
Het |
| Vwa3a |
T |
A |
7: 120,381,910 (GRCm39) |
S582T |
probably damaging |
Het |
| Zfp869 |
A |
T |
8: 70,159,177 (GRCm39) |
C465* |
probably null |
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 |
|
|
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 |
|
|
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'- GGCTGATTGACAAGAACAGCTAC -3'
(R):5'- GCTGAAATGCAGTGTGGAAC -3'
Sequencing Primer
(F):5'- GAAGACCATTCCTAATCGAGAAATG -3'
(R):5'- GTGTGGAACATAATGAACTGAACTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation