Incidental Mutation 'IGL01553:Ccdc7a'
ID90649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc7a
Ensembl Gene ENSMUSG00000025808
Gene Namecoiled-coil domain containing 7A
SynonymsCcdc7, 4930517G15Rik, 4930540C21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01553
Quality Score
Status
Chromosome8
Chromosomal Location128734235-129065517 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 129026591 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095158] [ENSMUST00000125112] [ENSMUST00000214889]
Predicted Effect probably benign
Transcript: ENSMUST00000095158
SMART Domains Protein: ENSMUSP00000092780
Gene: ENSMUSG00000025808

DomainStartEndE-ValueType
Pfam:BioT2 1 166 3e-79 PFAM
SCOP:d1sig__ 191 370 1e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125112
SMART Domains Protein: ENSMUSP00000117961
Gene: ENSMUSG00000025808

DomainStartEndE-ValueType
Pfam:BioT2 1 166 4.3e-83 PFAM
SCOP:d1sig__ 191 333 9e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000214889
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 T A 13: 4,194,775 H117Q probably damaging Het
Arhgap44 T C 11: 65,053,118 N188S probably damaging Het
Bach1 T A 16: 87,722,505 I561N probably damaging Het
Bsph2 G T 7: 13,556,720 T78K probably damaging Het
Ccdc178 A G 18: 21,915,006 Y776H probably damaging Het
Cenpp C T 13: 49,464,776 V218M probably damaging Het
Dnmt3l A G 10: 78,063,248 S94G probably benign Het
Dock7 A T 4: 98,945,566 Y1839* probably null Het
Fam129c G T 8: 71,602,902 A319S possibly damaging Het
Gabra6 T A 11: 42,315,196 T278S probably damaging Het
Galnt11 G A 5: 25,247,720 D77N probably benign Het
Gm17175 T C 14: 51,570,822 D171G probably benign Het
Iqch T C 9: 63,500,917 N655S probably benign Het
Kdm1b T A 13: 47,080,548 I786N probably damaging Het
Macf1 G A 4: 123,493,163 Q976* probably null Het
Mbtd1 T A 11: 93,923,214 C228S probably benign Het
Myo10 T C 15: 25,776,329 L46P probably damaging Het
Nup133 A G 8: 123,915,324 V800A possibly damaging Het
Olfr191 G T 16: 59,086,322 H54N probably benign Het
Prkca C T 11: 108,057,834 G110R probably benign Het
Samd9l A T 6: 3,375,566 M565K probably damaging Het
Scgn T C 13: 23,959,679 Q77R probably benign Het
Serpinb6b T C 13: 32,974,948 L44P probably damaging Het
Tfrc T C 16: 32,628,585 V673A probably benign Het
Tsfm G A 10: 127,028,390 T152M probably benign Het
Wdfy3 A T 5: 101,900,031 C1803S probably benign Het
Other mutations in Ccdc7a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Ccdc7a APN 8 129026754 splice site probably benign
IGL01019:Ccdc7a APN 8 129061618 missense probably benign 0.05
IGL01577:Ccdc7a APN 8 128988763 missense probably damaging 0.96
IGL03114:Ccdc7a APN 8 129026689 missense possibly damaging 0.62
IGL03323:Ccdc7a APN 8 129058763 missense probably benign 0.02
R1517:Ccdc7a UTSW 8 129061681 missense probably damaging 0.99
R1804:Ccdc7a UTSW 8 128988766 nonsense probably null
R1957:Ccdc7a UTSW 8 128980135 missense probably damaging 0.99
R4926:Ccdc7a UTSW 8 128980054 intron probably benign
R4981:Ccdc7a UTSW 8 128984983 missense probably benign 0.35
R5193:Ccdc7a UTSW 8 128988797 missense probably benign 0.02
R5273:Ccdc7a UTSW 8 129061609 frame shift probably null
R5486:Ccdc7a UTSW 8 128985403 missense probably damaging 0.98
R5505:Ccdc7a UTSW 8 128980174 missense possibly damaging 0.73
R5562:Ccdc7a UTSW 8 129058785 missense possibly damaging 0.79
R5704:Ccdc7a UTSW 8 128980096 splice site probably benign
R6256:Ccdc7a UTSW 8 128935593 intron probably null
R6273:Ccdc7a UTSW 8 128787338 missense probably damaging 0.97
R6366:Ccdc7a UTSW 8 128855992 missense unknown
R6455:Ccdc7a UTSW 8 128832610 missense probably damaging 0.97
R6778:Ccdc7a UTSW 8 128821120 missense possibly damaging 0.66
R6882:Ccdc7a UTSW 8 128797328 intron probably benign
R6891:Ccdc7a UTSW 8 129026638 missense probably damaging 1.00
R6906:Ccdc7a UTSW 8 128935681 missense unknown
R7028:Ccdc7a UTSW 8 128881594 missense unknown
R7046:Ccdc7a UTSW 8 129047619 missense probably damaging 0.99
R7073:Ccdc7a UTSW 8 128892385 missense possibly damaging 0.46
R7268:Ccdc7a UTSW 8 128881152 missense possibly damaging 0.66
R7454:Ccdc7a UTSW 8 128944516 missense unknown
R7643:Ccdc7a UTSW 8 128889811 missense probably damaging 1.00
R7733:Ccdc7a UTSW 8 128993052 missense probably damaging 1.00
R7792:Ccdc7a UTSW 8 128892437 missense possibly damaging 0.81
R7902:Ccdc7a UTSW 8 128836173 missense possibly damaging 0.46
R7985:Ccdc7a UTSW 8 128836173 missense possibly damaging 0.46
R8032:Ccdc7a UTSW 8 128825383 missense unknown
RF008:Ccdc7a UTSW 8 128964953 missense probably damaging 0.99
Z1176:Ccdc7a UTSW 8 129026663 missense probably benign 0.41
Z1177:Ccdc7a UTSW 8 128807924 missense possibly damaging 0.66
Posted On2013-12-09