Incidental Mutation 'IGL02648:Ccdc14'
ID302009
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc14
Ensembl Gene ENSMUSG00000022833
Gene Namecoiled-coil domain containing 14
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.456) question?
Stock #IGL02648
Quality Score
Status
Chromosome16
Chromosomal Location34690616-34725202 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34697158 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 70 (L70S)
Ref Sequence ENSEMBL: ENSMUSP00000156124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023532] [ENSMUST00000231609]
Predicted Effect probably damaging
Transcript: ENSMUST00000023532
AA Change: L118S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023532
Gene: ENSMUSG00000022833
AA Change: L118S

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
Pfam:CCDC14 96 934 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231364
Predicted Effect probably damaging
Transcript: ENSMUST00000231609
AA Change: L70S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232489
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,617,822 probably null Het
Acp4 A G 7: 44,254,990 probably benign Het
Adgrv1 A T 13: 81,511,619 M1997K probably benign Het
Arhgdib T C 6: 136,933,649 D38G probably damaging Het
Bbox1 T G 2: 110,305,526 D36A probably damaging Het
Cacna1c T C 6: 118,757,496 K104R probably damaging Het
Cacna1i G A 15: 80,298,638 C75Y probably damaging Het
Ccdc88a T G 11: 29,501,051 V1580G probably benign Het
Cdadc1 C A 14: 59,586,363 D227Y probably damaging Het
Chd3 T C 11: 69,352,150 Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 N493S probably benign Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Gm10549 C A 18: 33,464,250 probably benign Het
Gm17677 A T 9: 35,741,109 M21L probably benign Het
Greb1 C T 12: 16,708,682 V678M probably damaging Het
Gucy2c G A 6: 136,729,213 R497* probably null Het
Itgad T C 7: 128,183,374 probably benign Het
Lgr4 C A 2: 110,012,373 T877K probably damaging Het
Lrig3 A G 10: 125,966,594 D40G probably benign Het
Myo3b T C 2: 70,105,372 probably benign Het
Neb A G 2: 52,271,081 Y2193H possibly damaging Het
Olfr1270 T A 2: 90,149,353 I218F possibly damaging Het
Olfr918 T C 9: 38,673,016 M143V probably benign Het
Pard6b A G 2: 168,098,927 Q278R probably benign Het
Pkd2l1 T C 19: 44,155,536 Y366C possibly damaging Het
Prl2c1 A G 13: 27,857,559 D188G probably benign Het
Prl3a1 G T 13: 27,270,235 M65I probably benign Het
Psg26 T A 7: 18,482,766 E49D probably benign Het
Rapgef3 G A 15: 97,758,392 R38W probably damaging Het
Rrn3 T C 16: 13,811,589 F590L probably benign Het
Serpina12 T C 12: 104,038,008 K122E probably benign Het
Slc39a6 T C 18: 24,582,367 I699V probably damaging Het
Tmem259 G A 10: 79,977,817 P443S probably damaging Het
Vmn1r75 T A 7: 11,881,164 F274L probably benign Het
Other mutations in Ccdc14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Ccdc14 APN 16 34723213 missense probably damaging 1.00
IGL02338:Ccdc14 APN 16 34721803 missense probably benign 0.00
IGL02494:Ccdc14 APN 16 34723414 missense probably damaging 1.00
R0632:Ccdc14 UTSW 16 34721649 missense possibly damaging 0.86
R1199:Ccdc14 UTSW 16 34723828 missense probably damaging 1.00
R1469:Ccdc14 UTSW 16 34706782 missense probably damaging 0.99
R1469:Ccdc14 UTSW 16 34706782 missense probably damaging 0.99
R2012:Ccdc14 UTSW 16 34690722 missense possibly damaging 0.83
R2087:Ccdc14 UTSW 16 34695645 critical splice donor site probably null
R2337:Ccdc14 UTSW 16 34705018 missense probably benign 0.04
R2504:Ccdc14 UTSW 16 34721850 nonsense probably null
R3155:Ccdc14 UTSW 16 34723852 missense probably damaging 1.00
R4618:Ccdc14 UTSW 16 34706495 missense probably benign 0.08
R4645:Ccdc14 UTSW 16 34721740 missense probably damaging 1.00
R4835:Ccdc14 UTSW 16 34705038 missense probably damaging 1.00
R5186:Ccdc14 UTSW 16 34721585 missense probably damaging 1.00
R5214:Ccdc14 UTSW 16 34704855 missense probably benign 0.24
R5319:Ccdc14 UTSW 16 34723172 missense probably damaging 0.99
R5921:Ccdc14 UTSW 16 34706391 missense probably damaging 0.99
R5945:Ccdc14 UTSW 16 34723588 missense probably damaging 1.00
R6141:Ccdc14 UTSW 16 34706562 missense probably damaging 1.00
R6662:Ccdc14 UTSW 16 34690794 missense probably damaging 1.00
R6925:Ccdc14 UTSW 16 34690749 missense probably benign 0.29
R6958:Ccdc14 UTSW 16 34690806 missense probably damaging 1.00
R6970:Ccdc14 UTSW 16 34709533 missense probably damaging 1.00
R7365:Ccdc14 UTSW 16 34723619 nonsense probably null
R7845:Ccdc14 UTSW 16 34715364 missense probably damaging 1.00
R7889:Ccdc14 UTSW 16 34723836 missense probably damaging 1.00
R7903:Ccdc14 UTSW 16 34704910 missense probably damaging 0.99
R7928:Ccdc14 UTSW 16 34715364 missense probably damaging 1.00
R7972:Ccdc14 UTSW 16 34723836 missense probably damaging 1.00
R7986:Ccdc14 UTSW 16 34704910 missense probably damaging 0.99
R8093:Ccdc14 UTSW 16 34709652 missense probably damaging 1.00
Z1088:Ccdc14 UTSW 16 34690804 start codon destroyed probably null 0.98
Z1176:Ccdc14 UTSW 16 34706498 missense probably damaging 1.00
Z1177:Ccdc14 UTSW 16 34723670 missense probably damaging 1.00
Posted On2015-04-16