Incidental Mutation 'IGL02805:Ccdc9'
ID360385
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc9
Ensembl Gene ENSMUSG00000041375
Gene Namecoiled-coil domain containing 9
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02805
Quality Score
Status
Chromosome7
Chromosomal Location16274042-16286795 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16275274 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 550 (M550V)
Ref Sequence ENSEMBL: ENSMUSP00000114088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000169612]
Predicted Effect probably benign
Transcript: ENSMUST00000041010
SMART Domains Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
coiled coil region 150 184 N/A INTRINSIC
Pfam:DUF4594 203 378 1.1e-63 PFAM
coiled coil region 425 453 N/A INTRINSIC
low complexity region 490 507 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118976
AA Change: M550V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: M550V

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
low complexity region 121 135 N/A INTRINSIC
coiled coil region 150 184 N/A INTRINSIC
Pfam:DUF4594 204 375 6.3e-57 PFAM
coiled coil region 425 453 N/A INTRINSIC
low complexity region 490 507 N/A INTRINSIC
low complexity region 535 549 N/A INTRINSIC
low complexity region 580 588 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131963
Predicted Effect probably benign
Transcript: ENSMUST00000146085
SMART Domains Protein: ENSMUSP00000134049
Gene: ENSMUSG00000041375

DomainStartEndE-ValueType
Pfam:DUF4594 1 85 5.2e-16 PFAM
coiled coil region 135 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169612
SMART Domains Protein: ENSMUSP00000127027
Gene: ENSMUSG00000091811

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:InaF-motif 24 61 2.6e-20 PFAM
low complexity region 104 120 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172670
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Ppp6r3 T C 19: 3,492,428 N406D probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Ccdc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Ccdc9 APN 7 16284499 start codon destroyed probably null 0.01
IGL02167:Ccdc9 APN 7 16284359 nonsense probably null
IGL02513:Ccdc9 APN 7 16284509 utr 5 prime probably benign
R0537:Ccdc9 UTSW 7 16280776 unclassified probably benign
R0631:Ccdc9 UTSW 7 16278459 missense probably damaging 1.00
R1340:Ccdc9 UTSW 7 16275390 unclassified probably benign
R1758:Ccdc9 UTSW 7 16276236 missense probably damaging 0.99
R2067:Ccdc9 UTSW 7 16278550 splice site probably null
R2207:Ccdc9 UTSW 7 16284269 critical splice donor site probably benign
R5278:Ccdc9 UTSW 7 16278381 nonsense probably null
R5371:Ccdc9 UTSW 7 16280730 missense probably damaging 1.00
R7341:Ccdc9 UTSW 7 16280627 missense probably damaging 1.00
R7526:Ccdc9 UTSW 7 16282400 missense probably damaging 0.98
R7556:Ccdc9 UTSW 7 16284566 intron probably benign
R7683:Ccdc9 UTSW 7 16284362 missense probably damaging 1.00
Posted On2015-12-18