Incidental Mutation 'IGL02167:Ccdc9'
ID282743
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: 0.073) question?
Stock #IGL02167
Quality Score
Status
Chromosome7
Chromosomal Location16274042-16286795 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 16284359 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 8 (L8*)
Ref Sequence ENSEMBL: ENSMUSP00000133798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000145519] [ENSMUST00000146609] [ENSMUST00000148741] [ENSMUST00000150528] [ENSMUST00000174270]
Predicted Effect probably null
Transcript: ENSMUST00000041010
AA Change: L8*
SMART Domains Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375
AA Change: L8*

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 null
Transcript: ENSMUST00000118976
AA Change: L8*
SMART Domains Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: L8*

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: ENSMUST00000137993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144186
Predicted Effect probably null
Transcript: ENSMUST00000145519
AA Change: L8*
Predicted Effect probably benign
Transcript: ENSMUST00000146609
Predicted Effect probably null
Transcript: ENSMUST00000148741
AA Change: L8*
Predicted Effect probably benign
Transcript: ENSMUST00000150528
Predicted Effect probably null
Transcript: ENSMUST00000174270
AA Change: L8*
SMART Domains Protein: ENSMUSP00000133798
Gene: ENSMUSG00000041375
AA Change: L8*

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Tmem8 T C 17: 26,119,071 S450P probably damaging Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Ccdc9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Ccdc9 APN 7 16284499 start codon destroyed probably null 0.01
IGL02513:Ccdc9 APN 7 16284509 utr 5 prime probably benign
IGL02805:Ccdc9 APN 7 16275274 missense probably benign 0.01
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
Posted On2015-04-16