Incidental Mutation 'IGL01777:Ccar1'
ID154126
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 #IGL01777
Quality Score
Status
Chromosome10
Chromosomal Location62743928-62792286 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62780577 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 125 (I125V)
Ref Sequence ENSEMBL: ENSMUSP00000151496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020268] [ENSMUST00000217768] [ENSMUST00000218229] [ENSMUST00000218946] [ENSMUST00000219527]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020268
AA Change: I125V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020268
Gene: ENSMUSG00000020074
AA Change: I125V

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 possibly damaging
Transcript: ENSMUST00000217768
AA Change: I125V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217940
Predicted Effect probably benign
Transcript: ENSMUST00000218229
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218355
Predicted Effect possibly damaging
Transcript: ENSMUST00000218946
AA Change: I125V

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219527
AA Change: I125V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 T C 3: 60,024,784 V240A possibly damaging Het
Aftph A T 11: 20,726,554 C352S possibly damaging Het
Cand2 T C 6: 115,792,857 V876A probably damaging Het
Celsr3 A T 9: 108,835,942 M1858L probably benign Het
Csmd3 A T 15: 47,698,198 N2134K probably benign Het
Dhx29 A G 13: 112,930,872 I96V probably benign Het
Dst A G 1: 34,199,397 T3727A probably benign Het
Elavl4 T A 4: 110,206,661 probably null Het
Eno2 C T 6: 124,766,637 G113D probably damaging Het
Esf1 A C 2: 140,157,172 probably null Het
Frmd4b T C 6: 97,295,944 D783G probably benign Het
Gm13023 T G 4: 143,795,118 C435G possibly damaging Het
Grin2a C T 16: 9,644,130 V713I probably benign Het
Impa1 C T 3: 10,322,948 G138D probably damaging Het
Kcnt2 A G 1: 140,595,998 T1079A probably benign Het
Kmt2a A G 9: 44,849,005 S549P probably damaging Het
Magoh C A 4: 107,883,176 Q86K probably benign Het
Moxd1 C A 10: 24,252,596 T182K probably benign Het
Olfr476 A G 7: 107,967,502 Y35C probably damaging Het
Rab3b A T 4: 108,929,410 Q119L probably damaging Het
Snap47 T A 11: 59,421,651 probably null Het
Taar3 A G 10: 23,950,005 R150G probably benign Het
Tas2r102 C T 6: 132,762,852 T241I probably damaging Het
Tas2r114 C T 6: 131,689,701 W121* probably null Het
Trak1 G A 9: 121,431,560 probably null Het
Ubn1 T C 16: 5,072,149 V426A possibly damaging Het
Vmn1r40 T C 6: 89,714,222 L7P probably benign Het
Vmn2r43 T C 7: 8,255,273 I314V probably damaging Het
Vrtn T G 12: 84,648,922 S149A probably benign 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
IGL01958:Ccar1 APN 10 62790935 missense possibly damaging 0.94
IGL03096:Ccar1 APN 10 62764333 missense probably benign 0.20
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 On2014-02-04