Incidental Mutation 'R7526:Ccdc9'
ID 582989
Institutional Source Beutler Lab
Gene Symbol Ccdc9
Ensembl Gene ENSMUSG00000041375
Gene Name coiled-coil domain containing 9
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7526 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 16274042-16286795 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16282400 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 139 (L139P)
Ref Sequence ENSEMBL: ENSMUSP00000114088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041010] [ENSMUST00000118976] [ENSMUST00000145519] [ENSMUST00000146609] [ENSMUST00000148741] [ENSMUST00000150528] [ENSMUST00000174270]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041010
AA Change: L139P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000035597
Gene: ENSMUSG00000041375
AA Change: L139P

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 damaging
Transcript: ENSMUST00000118976
AA Change: L139P

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114088
Gene: ENSMUSG00000041375
AA Change: L139P

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 probably benign
Transcript: ENSMUST00000145519
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: ENSMUST00000146609
Predicted Effect probably benign
Transcript: ENSMUST00000148741
Predicted Effect probably benign
Transcript: ENSMUST00000150528
Predicted Effect probably benign
Transcript: ENSMUST00000174270
SMART Domains Protein: ENSMUSP00000133798
Gene: ENSMUSG00000041375

DomainStartEndE-ValueType
coiled coil region 5 52 N/A INTRINSIC
low complexity region 75 95 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (74/74)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A T 11: 65,152,981 F85I unknown Het
Ankrd22 A T 19: 34,149,365 W22R possibly damaging Het
Aqr A T 2: 114,108,109 H1287Q probably damaging Het
Armh1 C A 4: 117,213,741 A396S probably benign Het
Atp8b5 A G 4: 43,366,609 E791G probably damaging Het
Bicd1 T G 6: 149,513,726 S646A possibly damaging Het
Bmpr1b A T 3: 141,856,599 Y276N probably damaging Het
Cadps2 T C 6: 23,496,851 H465R probably damaging Het
Card11 A T 5: 140,913,429 probably null Het
Cdk5rap3 A T 11: 96,909,945 M355K probably benign Het
Cnot2 A T 10: 116,507,080 V116E probably benign Het
Defb48 A G 14: 62,977,831 V32A possibly damaging Het
Dmkn A G 7: 30,777,651 D460G possibly damaging Het
Dmxl2 A G 9: 54,400,957 V2170A possibly damaging Het
Dnah1 A T 14: 31,287,876 F1912I possibly damaging Het
Dok3 C T 13: 55,527,493 V71I probably benign Het
Dzip3 A T 16: 48,975,474 F178Y probably damaging Het
Enpp1 T C 10: 24,674,410 probably null Het
Eogt A G 6: 97,113,952 F409L probably damaging Het
Erich6 A T 3: 58,630,689 L218H probably damaging Het
Fam186a G C 15: 99,941,915 I2149M possibly damaging Het
Fat1 G A 8: 45,023,427 V1837I probably damaging Het
Flrt3 T A 2: 140,660,206 T501S probably damaging Het
Fmn1 A C 2: 113,688,134 E1365D probably damaging Het
Fzd5 G T 1: 64,736,092 P170Q probably benign Het
Gm13101 A T 4: 143,965,817 C205S probably benign Het
Gm14326 G A 2: 177,946,505 H233Y probably damaging Het
Gm19410 G A 8: 35,790,612 V735M probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,089,825 probably benign Het
Gm2832 A T 14: 41,280,962 I143L Het
Gm7534 T C 4: 134,200,073 probably null Het
Greb1 G A 12: 16,716,765 T344I probably benign Het
Grik2 A T 10: 49,523,822 Y271N possibly damaging Het
Grin3b A G 10: 79,973,051 N212D probably benign Het
Hgsnat A G 8: 25,971,049 L187P probably damaging Het
Hmcn1 A G 1: 150,656,573 I3152T probably damaging Het
Hsp90aa1 A T 12: 110,695,294 I96N unknown Het
Il18r1 T A 1: 40,471,772 L6I probably damaging Het
Ing3 G A 6: 21,953,799 V80I probably damaging Het
Kif18b T C 11: 102,914,667 I255V probably damaging Het
Kif2c A T 4: 117,182,432 N20K possibly damaging Het
Mfsd6l T C 11: 68,558,038 W572R probably damaging Het
Mybphl A G 3: 108,374,180 T71A probably benign Het
Myo7a G T 7: 98,085,448 T613K possibly damaging Het
Nfatc3 T C 8: 106,079,083 S195P probably damaging Het
Nrg1 T C 8: 31,818,323 N603S probably benign Het
Olfr1054 A T 2: 86,333,353 M1K probably null Het
Olfr1084 A G 2: 86,639,669 I13T possibly damaging Het
Olfr629 T C 7: 103,740,400 Y280C probably damaging Het
Parp8 T C 13: 116,894,805 E457G probably damaging Het
Pclo T C 5: 14,521,062 F154L probably benign Het
Pear1 A G 3: 87,752,568 S704P probably damaging Het
Pkib A G 10: 57,736,298 T92A probably benign Het
Pnpla7 A G 2: 24,998,666 R376G possibly damaging Het
Ptprd T A 4: 76,066,327 E527D probably benign Het
Pum1 T C 4: 130,747,026 V469A probably damaging Het
Rnf148 G A 6: 23,654,284 Q238* probably null Het
Scn9a A C 2: 66,483,646 N1909K probably benign Het
Sema3c A T 5: 17,727,596 H699L possibly damaging Het
Sema3f A T 9: 107,689,728 C201S probably damaging Het
Serinc2 T A 4: 130,258,790 D206V probably benign Het
Serping1 A T 2: 84,767,293 S415T probably benign Het
Sirpb1b A T 3: 15,548,872 L50Q probably damaging Het
Slc25a22 T C 7: 141,431,383 E262G probably benign Het
Slc5a8 A G 10: 88,902,491 I205M probably damaging Het
Sod2 G T 17: 13,008,031 probably benign Het
Tec T C 5: 72,786,019 I118V probably benign Het
Tenm3 A T 8: 48,287,812 V1212E probably damaging Het
Tex44 G A 1: 86,426,515 V49I probably benign Het
Tmem132d A T 5: 127,784,141 L972* probably null Het
Tpte G A 8: 22,325,547 probably null Het
Trim6 T A 7: 104,232,832 I456N probably damaging Het
Ubr4 G C 4: 139,422,417 V520L probably benign Het
Ubxn8 A T 8: 33,633,607 N101K probably benign Het
Vmn2r60 AG A 7: 42,195,734 probably null Het
Vmn2r83 A G 10: 79,491,558 T667A probably damaging 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
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
R7556:Ccdc9 UTSW 7 16284566 intron probably benign
R7683:Ccdc9 UTSW 7 16284362 missense probably damaging 1.00
R8673:Ccdc9 UTSW 7 16284361 missense probably damaging 1.00
R9262:Ccdc9 UTSW 7 16278475 missense probably benign 0.01
R9322:Ccdc9 UTSW 7 16278435 missense probably damaging 0.99
R9481:Ccdc9 UTSW 7 16282836 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCATGGCAGGCCTGTTTTC -3'
(R):5'- TTTCCCTTTCAGGAGAAGAGC -3'

Sequencing Primer
(F):5'- CTGTGCAGGAAGATGCCAAATTCC -3'
(R):5'- AGAAGAGCCTGGGTCCCTCTC -3'
Posted On 2019-10-17