Incidental Mutation 'IGL03096:Ccar1'
ID418566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccar1
Ensembl Gene ENSMUSG00000020074
Gene Namecell division cycle and apoptosis regulator 1
Synonyms9430036H15Rik, Carp1, 2610511G16Rik
Accession Numbers

Genbank: NM_026201.3; Ensembl: ENSMUST00000020268

Is this an essential gene? Probably essential (E-score: 0.904) question?
Stock #IGL03096
Quality Score
Status
Chromosome10
Chromosomal Location62743928-62792286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 62764333 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 606 (D606E)
Ref Sequence ENSEMBL: ENSMUSP00000151895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020268] [ENSMUST00000219527]
Predicted Effect probably benign
Transcript: ENSMUST00000020268
AA Change: D606E

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: D606E

DomainStartEndE-ValueType
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: ENSMUST00000116819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218786
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219441
Predicted Effect probably benign
Transcript: ENSMUST00000219527
AA Change: D606E

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220236
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(45) : Targeted, other(4) Gene trapped(41)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik A G 11: 80,374,179 F149S probably damaging Het
Ablim2 A T 5: 35,883,399 K103* probably null Het
Anapc4 C T 5: 52,865,929 T704I possibly damaging Het
Ces1d T C 8: 93,178,042 I357V probably benign Het
Col7a1 C A 9: 108,955,788 P228H unknown Het
Dock4 A G 12: 40,748,001 I875V probably benign Het
Fndc3a A T 14: 72,599,119 S67T probably damaging Het
Fras1 A G 5: 96,764,901 T3355A probably damaging Het
Gm13103 A G 4: 143,850,915 D89G probably benign Het
Gtf3a G A 5: 146,953,953 R248Q probably damaging Het
Hcrtr2 T A 9: 76,254,626 M161L probably benign Het
Il27ra G T 8: 84,031,532 L530M probably damaging Het
Kcnj15 A G 16: 95,296,434 E305G probably damaging Het
Map3k6 A T 4: 133,251,345 K1086* probably null Het
Neb T C 2: 52,249,472 I3044V possibly damaging Het
Ntng1 A T 3: 110,135,349 S54T probably benign Het
Olfr784 T C 10: 129,388,449 V272A probably damaging Het
Pah T C 10: 87,538,242 probably null Het
Pex3 A T 10: 13,534,663 probably benign Het
Plcg1 T C 2: 160,757,206 probably benign Het
Prl7c1 A T 13: 27,773,706 D250E probably damaging Het
Prrc2c C T 1: 162,702,359 G144S unknown Het
Rad51c A G 11: 87,388,646 L304P probably damaging Het
Rnf20 A C 4: 49,638,615 probably benign Het
Six3 A G 17: 85,621,937 N233S possibly damaging Het
Slc2a9 T A 5: 38,351,229 I476F probably damaging Het
Trps1 A C 15: 50,846,479 H154Q probably benign Het
Uvssa T C 5: 33,410,924 V552A probably benign Het
Vmn2r118 T G 17: 55,607,996 N550T probably damaging Het
Vmn2r16 T A 5: 109,339,885 I208K probably damaging Het
Other mutations in Ccar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Ccar1 APN 10 62753234 missense unknown
IGL01291:Ccar1 APN 10 62756649 missense probably damaging 1.00
IGL01364:Ccar1 APN 10 62776874 unclassified probably null
IGL01777:Ccar1 APN 10 62780577 missense possibly damaging 0.71
IGL01958:Ccar1 APN 10 62790935 missense possibly damaging 0.94
Lonk UTSW 10 62764533 missense probably damaging 1.00
1mM(1):Ccar1 UTSW 10 62783886 missense probably benign 0.00
ANU05:Ccar1 UTSW 10 62756649 missense probably damaging 1.00
R0440:Ccar1 UTSW 10 62780457 missense possibly damaging 0.94
R1295:Ccar1 UTSW 10 62783882 critical splice donor site probably null
R1573:Ccar1 UTSW 10 62750655 missense unknown
R1585:Ccar1 UTSW 10 62751001 missense unknown
R1633:Ccar1 UTSW 10 62751014 missense unknown
R1840:Ccar1 UTSW 10 62763510 missense probably damaging 0.98
R1854:Ccar1 UTSW 10 62764517 missense probably damaging 1.00
R1905:Ccar1 UTSW 10 62776658 missense possibly damaging 0.85
R2011:Ccar1 UTSW 10 62776694 missense probably benign 0.03
R2041:Ccar1 UTSW 10 62766048 missense probably damaging 1.00
R2202:Ccar1 UTSW 10 62745287 missense unknown
R2327:Ccar1 UTSW 10 62764382 missense probably damaging 1.00
R2932:Ccar1 UTSW 10 62776759 missense probably benign 0.08
R3040:Ccar1 UTSW 10 62756494 missense possibly damaging 0.83
R4647:Ccar1 UTSW 10 62747417 nonsense probably null
R4829:Ccar1 UTSW 10 62745335 missense unknown
R4887:Ccar1 UTSW 10 62753218 missense unknown
R4888:Ccar1 UTSW 10 62753218 missense unknown
R5000:Ccar1 UTSW 10 62751005 missense unknown
R5207:Ccar1 UTSW 10 62753281 missense unknown
R5214:Ccar1 UTSW 10 62770961 missense probably damaging 1.00
R5644:Ccar1 UTSW 10 62771978 missense probably benign 0.16
R6035:Ccar1 UTSW 10 62751785 missense unknown
R6035:Ccar1 UTSW 10 62751785 missense unknown
R6063:Ccar1 UTSW 10 62776717 missense possibly damaging 0.70
R6330:Ccar1 UTSW 10 62764533 missense probably damaging 1.00
R6370:Ccar1 UTSW 10 62764529 missense probably damaging 1.00
R6828:Ccar1 UTSW 10 62764430 missense probably damaging 0.98
R6943:Ccar1 UTSW 10 62746936 missense unknown
V8831:Ccar1 UTSW 10 62747406 missense unknown
X0017:Ccar1 UTSW 10 62765340 missense probably damaging 1.00
Posted On2016-08-02