Incidental Mutation 'IGL02396:Ccdc38'
ID294348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc38
Ensembl Gene ENSMUSG00000036168
Gene Namecoiled-coil domain containing 38
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL02396
Quality Score
Status
Chromosome10
Chromosomal Location93540632-93584327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93574132 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 271 (N271S)
Ref Sequence ENSEMBL: ENSMUSP00000150407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092215] [ENSMUST00000132214]
Predicted Effect probably benign
Transcript: ENSMUST00000092215
AA Change: N371S

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: N371S

DomainStartEndE-ValueType
Pfam:DUF4200 112 230 4.4e-28 PFAM
low complexity region 280 289 N/A INTRINSIC
low complexity region 317 333 N/A INTRINSIC
coiled coil region 388 412 N/A INTRINSIC
coiled coil region 479 522 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128786
Predicted Effect possibly damaging
Transcript: ENSMUST00000132214
AA Change: N271S

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,644,799 probably benign Het
Bmp3 C A 5: 98,872,719 Q334K possibly damaging Het
Bnc2 G T 4: 84,276,009 S1026R probably benign Het
Bsn C T 9: 108,116,046 G836S possibly damaging Het
Cand2 A G 6: 115,791,188 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Ccdc81 T G 7: 89,881,649 I362L probably benign Het
Cdhr3 T A 12: 33,045,196 I625F possibly damaging Het
Col12a1 T A 9: 79,662,583 R1568S probably benign Het
Cpeb4 T A 11: 31,925,441 S547T probably benign Het
Dennd4c T A 4: 86,825,000 N1075K probably damaging Het
Esrra C A 19: 6,912,005 V339L probably benign Het
Ghr A T 15: 3,457,998 M1K probably null Het
Gm4987 T A X: 46,456,114 noncoding transcript Het
Gm5096 A G 18: 87,756,656 E101G possibly damaging Het
Golga2 G T 2: 32,298,644 probably benign Het
Gys1 T A 7: 45,439,588 I137N probably damaging Het
Hs3st5 A T 10: 36,828,703 M1L probably benign Het
Hsd3b5 T A 3: 98,622,027 T96S probably benign Het
Ighv6-3 T C 12: 114,391,736 D111G probably damaging Het
Immp1l T A 2: 105,937,006 I70N probably damaging Het
Ints4 G A 7: 97,537,900 V866I possibly damaging Het
Large2 G T 2: 92,366,323 Y529* probably null Het
Maf1 C A 15: 76,353,257 Y166* probably null Het
Manba T A 3: 135,544,764 M384K probably damaging Het
Mapk4 C A 18: 73,933,997 probably null Het
Mc5r T C 18: 68,339,466 S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 N1404K probably damaging Het
Milr1 C A 11: 106,765,239 Y212* probably null Het
Ncor2 A G 5: 125,037,914 S1115P probably damaging Het
Olfr1122 A T 2: 87,387,705 probably benign Het
Olfr1314 C A 2: 112,092,467 C78F probably benign Het
Osbpl7 T G 11: 97,055,551 L158R probably damaging Het
Psmd4 A T 3: 95,035,910 L61Q probably damaging Het
Rassf9 A T 10: 102,545,693 N310I possibly damaging Het
Rpl21-ps6 A G 17: 55,915,400 noncoding transcript Het
Slc31a2 T C 4: 62,297,073 I119T probably damaging Het
Srgap2 C A 1: 131,292,675 C187F probably damaging Het
Tekt5 C A 16: 10,379,067 A307S probably benign Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn A G 2: 76,945,088 V1916A unknown Het
Wee1 T G 7: 110,142,093 V641G probably damaging Het
Zfand6 G A 7: 84,617,903 P157L probably damaging Het
Other mutations in Ccdc38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Ccdc38 APN 10 93569935 critical splice donor site probably null
IGL01986:Ccdc38 APN 10 93579843 missense probably damaging 1.00
IGL02568:Ccdc38 APN 10 93579823 missense probably damaging 1.00
ANU23:Ccdc38 UTSW 10 93569935 critical splice donor site probably null
R0004:Ccdc38 UTSW 10 93574102 missense probably damaging 1.00
R0194:Ccdc38 UTSW 10 93565912 nonsense probably null
R0371:Ccdc38 UTSW 10 93562812 nonsense probably null
R1374:Ccdc38 UTSW 10 93582434 splice site probably benign
R1388:Ccdc38 UTSW 10 93581840 splice site probably benign
R1546:Ccdc38 UTSW 10 93565879 missense probably benign 0.01
R2377:Ccdc38 UTSW 10 93574035 missense probably damaging 1.00
R2419:Ccdc38 UTSW 10 93548975 missense probably benign 0.23
R3949:Ccdc38 UTSW 10 93550219 missense probably damaging 1.00
R5592:Ccdc38 UTSW 10 93550202 missense possibly damaging 0.58
R5652:Ccdc38 UTSW 10 93555586 splice site probably null
R5857:Ccdc38 UTSW 10 93562833 missense possibly damaging 0.67
R5918:Ccdc38 UTSW 10 93570886 nonsense probably null
R5919:Ccdc38 UTSW 10 93578838 missense possibly damaging 0.95
R6057:Ccdc38 UTSW 10 93581746 missense probably damaging 1.00
R6293:Ccdc38 UTSW 10 93562797 nonsense probably null
R7511:Ccdc38 UTSW 10 93562800 missense possibly damaging 0.92
R8006:Ccdc38 UTSW 10 93555586 splice site probably null
R8206:Ccdc38 UTSW 10 93563284 missense probably damaging 0.97
R8313:Ccdc38 UTSW 10 93563249 missense probably damaging 1.00
Z1177:Ccdc38 UTSW 10 93562876 missense probably damaging 1.00
Posted On2015-04-16