Incidental Mutation 'IGL02568:Ccdc38'
ID298930
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: 0.192) question?
Stock #IGL02568
Quality Score
Status
Chromosome10
Chromosomal Location93540632-93584327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93579823 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 447 (D447V)
Ref Sequence ENSEMBL: ENSMUSP00000089860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020203] [ENSMUST00000092215] [ENSMUST00000132214]
Predicted Effect probably benign
Transcript: ENSMUST00000020203
SMART Domains Protein: ENSMUSP00000020203
Gene: ENSMUSG00000020018

DomainStartEndE-ValueType
Sm 9 74 6.54e-25 SMART
low complexity region 76 86 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092215
AA Change: D447V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: D447V

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 probably damaging
Transcript: ENSMUST00000132214
AA Change: D408V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,148,981 probably benign Het
Abcg5 C T 17: 84,670,399 R143Q probably damaging Het
Arap3 G A 18: 37,996,658 T150I probably benign Het
Arhgap32 T C 9: 32,247,194 V175A probably damaging Het
Bpifb3 A G 2: 153,924,801 E208G probably benign Het
C2 T A 17: 34,864,349 D518V possibly damaging Het
C6 T A 15: 4,791,164 C552* probably null Het
Cept1 C T 3: 106,503,719 R386H probably benign Het
Comt A G 16: 18,411,704 V85A probably damaging Het
Ddx24 G T 12: 103,417,312 L627I probably damaging Het
Efemp1 T C 11: 28,916,971 probably null Het
Etf1 T C 18: 34,913,661 T99A possibly damaging Het
Fhad1 T C 4: 141,932,794 E68G probably null Het
Fzd3 C A 14: 65,235,940 probably benign Het
Gins3 T C 8: 95,637,978 F119L probably benign Het
Golga5 G T 12: 102,472,079 V18L probably benign Het
Il16 C A 7: 83,661,276 R474M probably damaging Het
Itpr1 C A 6: 108,339,554 Q71K possibly damaging Het
Kif21b T G 1: 136,172,867 L1562R probably damaging Het
Lamc2 T C 1: 153,166,262 E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 L35R probably benign Het
Naip6 C A 13: 100,316,272 G94W probably damaging Het
Nccrp1 G A 7: 28,544,480 A226V probably damaging Het
Nckap5l A G 15: 99,425,683 Y980H probably damaging Het
Ncoa3 T C 2: 166,069,357 S1345P probably damaging Het
Nop2 T C 6: 125,140,850 S455P probably damaging Het
Nup93 T C 8: 94,309,635 F689S probably damaging Het
Olfr1466 T C 19: 13,342,219 F154L probably benign Het
Plekhm1 T A 11: 103,395,050 E186D probably damaging Het
Plxdc1 T C 11: 97,978,564 Q66R probably damaging Het
Prkdc T G 16: 15,726,542 Y1799D probably damaging Het
Rasa2 A G 9: 96,580,510 F220L probably damaging Het
Rftn1 T C 17: 50,036,999 D87G probably damaging Het
Rgs6 C T 12: 83,070,602 T266M probably benign Het
Sec16a A G 2: 26,436,042 Y1208H probably damaging Het
Slc12a1 G T 2: 125,184,728 V428L probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T A 4: 58,135,441 T556S probably benign Het
Tanc2 T A 11: 105,776,951 N119K probably benign Het
Tpgs1 T A 10: 79,669,404 probably benign Het
Tpm3-rs7 A G 14: 113,314,938 E88G probably damaging Het
Tsr1 T C 11: 74,900,378 V261A probably benign Het
Usp18 C T 6: 121,261,091 T143I probably benign Het
Vmn2r24 T C 6: 123,815,853 I713T probably benign Het
Zfp518a G A 19: 40,914,617 G997R 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
IGL02396:Ccdc38 APN 10 93574132 missense possibly damaging 0.61
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