Incidental Mutation 'IGL01986:Ccdc38'
ID181922
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? Possibly non essential (E-score: 0.320) question?
Stock #IGL01986
Quality Score
Status
Chromosome10
Chromosomal Location93540632-93584327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93579843 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 415 (N415Y)
Ref Sequence ENSEMBL: ENSMUSP00000150407 (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: N454Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089860
Gene: ENSMUSG00000036168
AA Change: N454Y

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: N415Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,441,036 I245F possibly damaging Het
Abca3 G A 17: 24,408,114 G1263D probably damaging Het
Arap2 A T 5: 62,621,922 S1442T probably damaging Het
Arl15 C A 13: 113,922,366 S56R possibly damaging Het
C530008M17Rik T A 5: 76,858,610 S939R unknown Het
Ccny G A 18: 9,377,817 R81C probably damaging Het
Csmd3 T C 15: 47,659,195 T2693A possibly damaging Het
Fancm C T 12: 65,126,655 Q1914* probably null Het
Fuk T C 8: 110,883,257 T1042A probably benign Het
Gm18856 G A 13: 13,964,828 probably benign Het
Gramd1a A T 7: 31,134,009 L610Q possibly damaging Het
Hsd17b4 C A 18: 50,160,126 probably benign Het
Hspa12a A G 19: 58,799,402 S663P probably benign Het
Insr C T 8: 3,158,817 V1215I probably damaging Het
Kdr A G 5: 75,952,859 V783A probably benign Het
Klhl9 T C 4: 88,721,779 D75G probably damaging Het
Lmntd1 A G 6: 145,419,807 S53P probably damaging Het
Lrrc41 T A 4: 116,089,322 F411L probably benign Het
Lyst G A 13: 13,775,627 probably null Het
Mmp17 A G 5: 129,596,628 H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 R154Q probably damaging Het
Olfr1123 A G 2: 87,418,536 I163V probably benign Het
Olfr1182 C T 2: 88,446,495 V148I probably benign Het
Olfr124 A G 17: 37,806,066 K307R probably damaging Het
Olfr285 T C 15: 98,312,779 Y257C probably damaging Het
Pcsk6 G A 7: 65,927,877 R60H probably damaging Het
Polk T C 13: 96,483,823 D623G probably benign Het
Rlf A T 4: 121,148,106 C1226S probably damaging Het
Rpa2 C T 4: 132,771,880 P87S probably benign Het
Rpa2 C T 4: 132,771,881 P87L probably benign Het
Sema5a T C 15: 32,682,360 probably benign Het
Sis A T 3: 72,945,212 M529K probably damaging Het
Sspo T C 6: 48,483,303 M3375T probably benign Het
Syne3 A T 12: 104,968,000 L83Q probably damaging Het
Tec A T 5: 72,782,005 Y222* probably null Het
Tfap2d C T 1: 19,119,159 probably benign Het
Trak1 G A 9: 121,472,967 A930T probably benign Het
Ugt2b34 G T 5: 86,901,252 H305N probably benign Het
Vmn2r95 A G 17: 18,440,211 N295S probably benign Het
Other mutations in Ccdc38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Ccdc38 APN 10 93569935 critical splice donor site probably null
IGL02396:Ccdc38 APN 10 93574132 missense possibly damaging 0.61
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 On2014-05-07