Incidental Mutation 'R6130:Ccdc39'
ID 501810
Institutional Source Beutler Lab
Gene Symbol Ccdc39
Ensembl Gene ENSMUSG00000027676
Gene Name coiled-coil domain containing 39
Synonyms b2b1735Clo, D3Ertd789e, prh, 4921507O14Rik, b2b1304Clo, b2b2025.1Clo
MMRRC Submission 044277-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.777) question?
Stock # R6130 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 33866511-33898459 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 33895341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222]
AlphaFold Q9D5Y1
Predicted Effect probably null
Transcript: ENSMUST00000029222
SMART Domains Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676

DomainStartEndE-ValueType
coiled coil region 16 67 N/A INTRINSIC
coiled coil region 164 198 N/A INTRINSIC
coiled coil region 232 339 N/A INTRINSIC
low complexity region 381 393 N/A INTRINSIC
internal_repeat_1 569 603 1.19e-5 PROSPERO
internal_repeat_1 598 635 1.19e-5 PROSPERO
coiled coil region 664 704 N/A INTRINSIC
coiled coil region 726 766 N/A INTRINSIC
low complexity region 873 889 N/A INTRINSIC
low complexity region 915 928 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197230
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200300
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 96% (46/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abi3 T A 11: 95,727,921 (GRCm39) E90V probably damaging Het
Adgrv1 A C 13: 81,575,864 (GRCm39) V4834G probably damaging Het
Aen A T 7: 78,552,387 (GRCm39) probably null Het
Ankrd55 A G 13: 112,454,980 (GRCm39) D26G probably damaging Het
Antxr2 T C 5: 98,152,131 (GRCm39) E160G possibly damaging Het
Auts2 T C 5: 131,469,061 (GRCm39) H528R probably damaging Het
Casd1 A G 6: 4,641,948 (GRCm39) T742A probably damaging Het
Ctla4 T C 1: 60,951,650 (GRCm39) Y60H probably damaging Het
Dennd4b T C 3: 90,183,566 (GRCm39) L935P probably damaging Het
Dnah6 T A 6: 73,165,477 (GRCm39) T543S probably benign Het
Dnai3 A C 3: 145,748,559 (GRCm39) Y852D probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fdxacb1 C T 9: 50,683,902 (GRCm39) R420* probably null Het
Flg A G 3: 93,200,023 (GRCm39) probably benign Het
Fpr1 T A 17: 18,097,897 (GRCm39) I31F probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gsta1 T A 9: 78,149,847 (GRCm39) F220Y probably damaging Het
Hmg20a T A 9: 56,395,891 (GRCm39) probably null Het
Igf2bp1 A C 11: 95,864,846 (GRCm39) L201R probably damaging Het
Jph3 G A 8: 122,479,826 (GRCm39) R168H probably damaging Het
Kif1a T A 1: 92,964,623 (GRCm39) I1318F probably damaging Het
Lamc2 T C 1: 153,012,523 (GRCm39) N717S probably benign Het
Lepr A T 4: 101,622,569 (GRCm39) S450C probably damaging Het
Muc16 A G 9: 18,501,994 (GRCm39) V6535A probably damaging Het
Myom3 A G 4: 135,489,882 (GRCm39) T18A probably benign Het
Nlrp5 A G 7: 23,103,598 (GRCm39) K22E probably benign Het
Obscn A C 11: 58,968,771 (GRCm39) S2534A possibly damaging Het
Or1j21 A T 2: 36,684,055 (GRCm39) D269V probably benign Het
Or2ak5 A G 11: 58,611,133 (GRCm39) V247A probably damaging Het
Pcdhga8 T A 18: 37,860,580 (GRCm39) N545K possibly damaging Het
Pcsk5 A T 19: 17,488,920 (GRCm39) Y967N probably damaging Het
Robo2 C T 16: 73,717,570 (GRCm39) G100S probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Saxo4 G A 19: 10,455,128 (GRCm39) P233L probably benign Het
Scap A G 9: 110,209,447 (GRCm39) T707A possibly damaging Het
Scarf1 A G 11: 75,416,565 (GRCm39) Q669R probably benign Het
Scin T C 12: 40,119,435 (GRCm39) D531G probably benign Het
Sh2b3 T C 5: 121,953,626 (GRCm39) probably null Het
Slco1a6 T C 6: 142,032,155 (GRCm39) S657G probably benign Het
Stil T A 4: 114,887,058 (GRCm39) probably null Het
Syna T A 5: 134,587,122 (GRCm39) Q609L possibly damaging Het
Tmem59l A G 8: 70,937,255 (GRCm39) S271P probably damaging Het
Tns2 A G 15: 102,019,676 (GRCm39) E522G probably damaging Het
Trappc6a G A 7: 19,249,219 (GRCm39) A149T probably benign Het
Trim21 A T 7: 102,212,498 (GRCm39) L156H possibly damaging Het
Trpv3 A G 11: 73,187,309 (GRCm39) R714G possibly damaging Het
Zfp87 T A 13: 74,520,460 (GRCm39) Q206L possibly damaging Het
Other mutations in Ccdc39
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Ccdc39 APN 3 33,886,717 (GRCm39) missense probably benign 0.16
IGL02321:Ccdc39 APN 3 33,871,107 (GRCm39) unclassified probably benign
IGL02426:Ccdc39 APN 3 33,879,547 (GRCm39) missense possibly damaging 0.85
IGL02930:Ccdc39 APN 3 33,879,643 (GRCm39) missense probably damaging 1.00
IGL03027:Ccdc39 APN 3 33,884,267 (GRCm39) missense probably benign 0.06
IGL03347:Ccdc39 APN 3 33,891,992 (GRCm39) missense probably damaging 1.00
R0046:Ccdc39 UTSW 3 33,898,301 (GRCm39) missense possibly damaging 0.52
R0046:Ccdc39 UTSW 3 33,898,301 (GRCm39) missense possibly damaging 0.52
R0601:Ccdc39 UTSW 3 33,873,988 (GRCm39) missense probably damaging 0.99
R0975:Ccdc39 UTSW 3 33,898,274 (GRCm39) missense probably damaging 1.00
R1075:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1224:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1251:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1252:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1254:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1255:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1331:Ccdc39 UTSW 3 33,869,634 (GRCm39) missense probably benign 0.34
R1370:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1385:Ccdc39 UTSW 3 33,875,561 (GRCm39) missense probably damaging 0.99
R1416:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1491:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1513:Ccdc39 UTSW 3 33,893,294 (GRCm39) missense possibly damaging 0.60
R1769:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1965:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R1966:Ccdc39 UTSW 3 33,880,629 (GRCm39) missense probably damaging 0.99
R2061:Ccdc39 UTSW 3 33,874,045 (GRCm39) missense probably damaging 0.97
R2109:Ccdc39 UTSW 3 33,869,650 (GRCm39) missense probably damaging 0.97
R2183:Ccdc39 UTSW 3 33,875,581 (GRCm39) missense possibly damaging 0.46
R2207:Ccdc39 UTSW 3 33,890,882 (GRCm39) missense probably damaging 0.97
R2208:Ccdc39 UTSW 3 33,895,327 (GRCm39) missense probably damaging 0.99
R2267:Ccdc39 UTSW 3 33,869,633 (GRCm39) missense probably damaging 0.99
R3012:Ccdc39 UTSW 3 33,868,817 (GRCm39) missense probably damaging 1.00
R3013:Ccdc39 UTSW 3 33,868,817 (GRCm39) missense probably damaging 1.00
R3120:Ccdc39 UTSW 3 33,891,987 (GRCm39) missense probably damaging 1.00
R3415:Ccdc39 UTSW 3 33,868,646 (GRCm39) missense probably benign 0.02
R3802:Ccdc39 UTSW 3 33,874,044 (GRCm39) missense probably damaging 1.00
R3804:Ccdc39 UTSW 3 33,874,044 (GRCm39) missense probably damaging 1.00
R4107:Ccdc39 UTSW 3 33,879,628 (GRCm39) missense probably damaging 1.00
R4334:Ccdc39 UTSW 3 33,892,031 (GRCm39) missense probably damaging 1.00
R4367:Ccdc39 UTSW 3 33,880,671 (GRCm39) missense probably benign 0.01
R4462:Ccdc39 UTSW 3 33,868,817 (GRCm39) missense probably damaging 1.00
R4653:Ccdc39 UTSW 3 33,873,955 (GRCm39) critical splice donor site probably null
R4723:Ccdc39 UTSW 3 33,867,227 (GRCm39) missense possibly damaging 0.66
R4908:Ccdc39 UTSW 3 33,893,242 (GRCm39) splice site probably null
R5236:Ccdc39 UTSW 3 33,884,251 (GRCm39) missense probably damaging 1.00
R5646:Ccdc39 UTSW 3 33,879,699 (GRCm39) missense probably damaging 1.00
R5705:Ccdc39 UTSW 3 33,871,086 (GRCm39) missense probably damaging 1.00
R5739:Ccdc39 UTSW 3 33,880,710 (GRCm39) missense possibly damaging 0.95
R6375:Ccdc39 UTSW 3 33,868,516 (GRCm39) missense probably benign 0.38
R6548:Ccdc39 UTSW 3 33,892,108 (GRCm39) missense probably benign 0.03
R6709:Ccdc39 UTSW 3 33,884,242 (GRCm39) missense possibly damaging 0.52
R6858:Ccdc39 UTSW 3 33,874,017 (GRCm39) missense probably damaging 1.00
R7183:Ccdc39 UTSW 3 33,868,620 (GRCm39) missense probably damaging 1.00
R7269:Ccdc39 UTSW 3 33,884,254 (GRCm39) missense probably benign 0.00
R7348:Ccdc39 UTSW 3 33,886,825 (GRCm39) missense possibly damaging 0.55
R7645:Ccdc39 UTSW 3 33,879,318 (GRCm39) splice site probably null
R7695:Ccdc39 UTSW 3 33,868,668 (GRCm39) missense probably damaging 1.00
R7752:Ccdc39 UTSW 3 33,886,766 (GRCm39) missense possibly damaging 0.55
R8487:Ccdc39 UTSW 3 33,886,808 (GRCm39) nonsense probably null
R8523:Ccdc39 UTSW 3 33,869,560 (GRCm39) critical splice donor site probably null
R8525:Ccdc39 UTSW 3 33,868,853 (GRCm39) missense probably benign 0.00
R8777:Ccdc39 UTSW 3 33,893,282 (GRCm39) missense probably benign
R8777-TAIL:Ccdc39 UTSW 3 33,893,282 (GRCm39) missense probably benign
R8842:Ccdc39 UTSW 3 33,880,612 (GRCm39) missense probably damaging 1.00
R8932:Ccdc39 UTSW 3 33,884,274 (GRCm39) missense probably benign 0.00
R8947:Ccdc39 UTSW 3 33,869,609 (GRCm39) unclassified probably benign
R9207:Ccdc39 UTSW 3 33,886,706 (GRCm39) nonsense probably null
R9280:Ccdc39 UTSW 3 33,870,153 (GRCm39) missense probably damaging 0.98
R9462:Ccdc39 UTSW 3 33,868,519 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGTGGCACGTAATACCCAATG -3'
(R):5'- GCTCTCATAAATGAATCAGTGCC -3'

Sequencing Primer
(F):5'- GTGGCACGTAATACCCAATGACAAC -3'
(R):5'- TGAATCAGTGCCCGTATAAAAAG -3'
Posted On 2017-12-04