Incidental Mutation 'IGL02305:Ccdc36'
ID287555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc36
Ensembl Gene ENSMUSG00000047220
Gene Namecoiled-coil domain containing 36
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02305
Quality Score
Status
Chromosome9
Chromosomal Location108403611-108428484 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108405832 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 219 (M219K)
Ref Sequence ENSEMBL: ENSMUSP00000075898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076592] [ENSMUST00000192995]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076592
AA Change: M219K

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075898
Gene: ENSMUSG00000047220
AA Change: M219K

DomainStartEndE-ValueType
Pfam:DUF4700 19 572 4.7e-274 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192995
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,772,929 T599I probably damaging Het
Ahi1 A G 10: 20,970,897 T409A probably benign Het
Apol10b T A 15: 77,585,430 R182S possibly damaging Het
Arhgap35 A G 7: 16,563,665 F492L probably benign Het
Ccdc136 A G 6: 29,406,174 D173G probably damaging Het
Ccndbp1 T C 2: 121,011,452 L67P probably damaging Het
Dync2h1 C T 9: 7,122,678 V2093I probably benign Het
Eps15l1 T C 8: 72,387,009 K213R probably null Het
Fat4 A T 3: 39,009,988 N4698Y probably damaging Het
Frmpd1 G T 4: 45,249,209 R133L probably damaging Het
Gdi2 T A 13: 3,556,428 M158K probably damaging Het
Hoxc8 A G 15: 102,992,593 Y156C probably damaging Het
Kcnh2 T C 5: 24,322,660 D898G possibly damaging Het
Kng2 T C 16: 23,000,624 probably benign Het
Men1 T C 19: 6,340,138 L566P probably damaging Het
Mtmr2 T C 9: 13,795,255 W153R probably damaging Het
Mug2 T G 6: 122,036,056 L309R probably benign Het
Myo7a A G 7: 98,051,629 *2165R probably null Het
Ogfod2 T C 5: 124,112,847 probably null Het
Olfr44 A T 9: 39,485,037 I72N probably damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pard6g T C 18: 80,117,770 L366P probably damaging Het
Pdlim4 A T 11: 54,055,933 L117H probably damaging Het
Pkd1l1 G A 11: 8,902,467 A672V probably benign Het
Pomt2 A G 12: 87,117,929 probably benign Het
Prpf4 T A 4: 62,415,396 probably benign Het
Rad17 C T 13: 100,633,862 probably null Het
Ryr3 T A 2: 112,645,277 I4499F probably damaging Het
Sav1 A G 12: 69,986,776 probably benign Het
Scube1 A T 15: 83,607,390 F887I probably damaging Het
Slc5a6 T C 5: 31,037,835 S473G probably benign Het
Taf1b T C 12: 24,544,271 S268P possibly damaging Het
Tmem135 A T 7: 89,165,123 probably null Het
Vmn2r104 A T 17: 20,042,856 N114K probably benign Het
Ypel5 A T 17: 72,848,596 Y53F probably benign Het
Zfp438 A G 18: 5,213,674 V428A possibly damaging Het
Zzef1 T C 11: 72,866,597 probably benign Het
Other mutations in Ccdc36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01956:Ccdc36 APN 9 108417319 splice site probably benign
IGL02138:Ccdc36 APN 9 108406621 missense probably benign 0.00
IGL02456:Ccdc36 APN 9 108406621 missense probably benign 0.00
IGL02936:Ccdc36 APN 9 108412503 missense possibly damaging 0.69
IGL03150:Ccdc36 APN 9 108404956 missense probably damaging 0.98
IGL03163:Ccdc36 APN 9 108404933 missense probably benign 0.00
IGL03280:Ccdc36 APN 9 108404900 missense possibly damaging 0.92
R0139:Ccdc36 UTSW 9 108412496 missense probably damaging 1.00
R0276:Ccdc36 UTSW 9 108428440 missense possibly damaging 0.84
R0744:Ccdc36 UTSW 9 108404801 missense probably benign
R0836:Ccdc36 UTSW 9 108404801 missense probably benign
R1792:Ccdc36 UTSW 9 108404912 missense possibly damaging 0.84
R1918:Ccdc36 UTSW 9 108412985 missense probably benign 0.16
R2284:Ccdc36 UTSW 9 108421473 missense probably damaging 1.00
R2401:Ccdc36 UTSW 9 108413006 missense possibly damaging 0.53
R4731:Ccdc36 UTSW 9 108405385 missense probably benign 0.00
R4819:Ccdc36 UTSW 9 108406678 missense probably benign 0.10
R4950:Ccdc36 UTSW 9 108421510 missense probably damaging 1.00
R4968:Ccdc36 UTSW 9 108412514 missense probably benign 0.11
R7131:Ccdc36 UTSW 9 108417420 missense probably benign 0.01
R7201:Ccdc36 UTSW 9 108404775 missense probably damaging 0.98
R7950:Ccdc36 UTSW 9 108405671 missense probably benign
Posted On2015-04-16