Incidental Mutation 'R0968:Cabcoco1'
ID 83954
Institutional Source Beutler Lab
Gene Symbol Cabcoco1
Ensembl Gene ENSMUSG00000019945
Gene Name ciliary associated calcium binding coiled-coil 1
Synonyms 1700040L02Rik
MMRRC Submission 039097-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0968 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 68266783-68377726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68272202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 254 (M254V)
Ref Sequence ENSEMBL: ENSMUSP00000020103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020103] [ENSMUST00000166919]
AlphaFold Q8CDT7
Predicted Effect probably benign
Transcript: ENSMUST00000020103
AA Change: M254V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: M254V

DomainStartEndE-ValueType
Pfam:CLAMP 93 192 1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166919
AA Change: M154V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128895
Gene: ENSMUSG00000019945
AA Change: M154V

DomainStartEndE-ValueType
Pfam:CLAMP 1 94 1.2e-23 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 94% (34/36)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,772,967 (GRCm39) V719M probably damaging Het
Abca13 A G 11: 9,248,016 (GRCm39) S2588G probably benign Het
Acaca C T 11: 84,129,859 (GRCm39) Q405* probably null Het
Brms1l G A 12: 55,912,798 (GRCm39) D264N possibly damaging Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Coro7 G C 16: 4,487,919 (GRCm39) probably benign Het
Cylc2 A G 4: 51,216,706 (GRCm39) M1V probably null Het
Cyp3a11 G A 5: 145,799,324 (GRCm39) probably benign Het
Dnah10 C T 5: 124,906,641 (GRCm39) T4224M probably damaging Het
Dnah2 T C 11: 69,339,345 (GRCm39) E3054G possibly damaging Het
Dnm3 A G 1: 161,847,388 (GRCm39) probably benign Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Fgf12 T C 16: 27,981,185 (GRCm39) N177S probably null Het
Flt3 C T 5: 147,278,037 (GRCm39) V846I possibly damaging Het
Gm11569 A T 11: 99,689,250 (GRCm39) probably benign Het
Gm12695 A C 4: 96,650,303 (GRCm39) V181G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Lars1 C A 18: 42,351,648 (GRCm39) R852L probably benign Het
Lca5 T C 9: 83,305,222 (GRCm39) T195A probably benign Het
Lrrc40 G A 3: 157,742,426 (GRCm39) D14N probably damaging Het
Map4k2 T C 19: 6,395,487 (GRCm39) S327P probably damaging Het
Mpp4 A G 1: 59,169,249 (GRCm39) F397L probably damaging Het
Mtus2 T C 5: 148,014,994 (GRCm39) S596P probably benign Het
Myo3a T A 2: 22,448,301 (GRCm39) N25K probably damaging Het
Nadsyn1 T C 7: 143,359,770 (GRCm39) T401A probably benign Het
Pde6a A T 18: 61,386,809 (GRCm39) E395D probably damaging Het
Plekhm2 A G 4: 141,357,243 (GRCm39) V743A probably benign Het
Pzp A T 6: 128,502,108 (GRCm39) D80E probably benign Het
Rp1 A T 1: 4,415,575 (GRCm39) C1846S probably benign Het
Shbg A G 11: 69,508,014 (GRCm39) L117P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Supt20 A G 3: 54,615,821 (GRCm39) probably benign Het
Vcpip1 A T 1: 9,816,604 (GRCm39) I593N probably damaging Het
Other mutations in Cabcoco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Cabcoco1 APN 10 68,377,635 (GRCm39) missense possibly damaging 0.94
IGL00644:Cabcoco1 APN 10 68,369,730 (GRCm39) missense probably benign 0.18
IGL02253:Cabcoco1 APN 10 68,272,107 (GRCm39) splice site probably null
R0060:Cabcoco1 UTSW 10 68,369,692 (GRCm39) splice site probably null
R0629:Cabcoco1 UTSW 10 68,352,108 (GRCm39) missense probably damaging 1.00
R2108:Cabcoco1 UTSW 10 68,267,153 (GRCm39) missense probably benign 0.04
R2154:Cabcoco1 UTSW 10 68,267,092 (GRCm39) missense probably damaging 1.00
R3076:Cabcoco1 UTSW 10 68,361,475 (GRCm39) missense possibly damaging 0.62
R3077:Cabcoco1 UTSW 10 68,361,475 (GRCm39) missense possibly damaging 0.62
R3872:Cabcoco1 UTSW 10 68,352,108 (GRCm39) missense probably damaging 1.00
R4876:Cabcoco1 UTSW 10 68,377,599 (GRCm39) missense probably benign
R6299:Cabcoco1 UTSW 10 68,272,720 (GRCm39) missense probably damaging 0.99
R6460:Cabcoco1 UTSW 10 68,352,211 (GRCm39) missense probably damaging 1.00
R7127:Cabcoco1 UTSW 10 68,272,160 (GRCm39) missense probably benign 0.26
R8509:Cabcoco1 UTSW 10 68,267,119 (GRCm39) missense probably damaging 1.00
R8719:Cabcoco1 UTSW 10 68,272,671 (GRCm39) critical splice donor site probably benign
R8911:Cabcoco1 UTSW 10 68,377,584 (GRCm39) missense probably benign
R9180:Cabcoco1 UTSW 10 68,272,719 (GRCm39) missense probably damaging 1.00
R9562:Cabcoco1 UTSW 10 68,272,725 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- ACCAGAGCGGAGCAGTGTTTACAG -3'
(R):5'- GCTGACGTTTTCCCAGACAACATTC -3'

Sequencing Primer
(F):5'- ACAGATGTTGCCTAATTTGCC -3'
(R):5'- CACTTGTAATCCCTAAGGTACATGG -3'
Posted On 2013-11-08