Incidental Mutation 'R8525:Ccdc39'
ID 658751
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 067950-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.777) question?
Stock # R8525 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 33866511-33898459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33868853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 786 (R786H)
Ref Sequence ENSEMBL: ENSMUSP00000029222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222] [ENSMUST00000099153] [ENSMUST00000108210] [ENSMUST00000117915]
AlphaFold Q9D5Y1
Predicted Effect probably benign
Transcript: ENSMUST00000029222
AA Change: R786H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: R786H

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 probably benign
Transcript: ENSMUST00000099153
SMART Domains Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 306 339 6.19e-1 SMART
TPR 340 373 2.11e-3 SMART
TPR 381 414 1.88e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108210
SMART Domains Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 306 339 6.19e-1 SMART
TPR 340 373 2.11e-3 SMART
TPR 381 414 1.88e0 SMART
coiled coil region 415 476 N/A INTRINSIC
low complexity region 617 630 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117915
SMART Domains Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677

DomainStartEndE-ValueType
low complexity region 38 56 N/A INTRINSIC
S1 123 207 7.28e-2 SMART
TPR 254 287 6.19e-1 SMART
TPR 288 321 2.11e-3 SMART
TPR 329 362 1.88e0 SMART
coiled coil region 363 424 N/A INTRINSIC
low complexity region 565 578 N/A INTRINSIC
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (49/50)
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
2310022A10Rik A T 7: 27,255,936 (GRCm39) N8Y possibly damaging Het
4932414N04Rik A T 2: 68,559,378 (GRCm39) D197V possibly damaging Het
Aar2 G A 2: 156,397,837 (GRCm39) R283Q probably benign Het
Acsf2 T A 11: 94,463,446 (GRCm39) I119F probably benign Het
Adamtsl1 C T 4: 86,195,247 (GRCm39) P572S probably damaging Het
Adh5 A T 3: 138,157,095 (GRCm39) I219F probably damaging Het
Arhgap23 T A 11: 97,380,910 (GRCm39) F1098I probably damaging Het
Bicc1 G T 10: 70,779,365 (GRCm39) H674Q possibly damaging Het
Ccr1l1 A G 9: 123,777,589 (GRCm39) I286T possibly damaging Het
Ccr9 T A 9: 123,608,732 (GRCm39) M138K probably benign Het
Dbh T C 2: 27,055,798 (GRCm39) F91L probably benign Het
Dip2a T A 10: 76,110,115 (GRCm39) probably null Het
Eif3j1 A G 2: 121,880,991 (GRCm39) I148V probably damaging Het
Etl4 A G 2: 20,534,892 (GRCm39) R116G probably damaging Het
Exoc6 C A 19: 37,597,440 (GRCm39) Q614K possibly damaging Het
Gabpb1 A G 2: 126,494,194 (GRCm39) S144P possibly damaging Het
Galnt13 G A 2: 54,950,488 (GRCm39) V390M possibly damaging Het
Gimap5 T C 6: 48,729,501 (GRCm39) S24P probably benign Het
Gm4924 T A 10: 82,213,701 (GRCm39) probably benign Het
Gucy1a2 T A 9: 3,865,365 (GRCm39) I613K probably damaging Het
Hsp90ab1 T A 17: 45,880,726 (GRCm39) E115D probably benign Het
Hspg2 T C 4: 137,266,759 (GRCm39) V1949A probably damaging Het
Ice2 A G 9: 69,318,698 (GRCm39) Y294C probably damaging Het
Il17ra T G 6: 120,451,298 (GRCm39) Y157* probably null Het
Ipo13 T C 4: 117,762,126 (GRCm39) E416G probably damaging Het
Large1 C T 8: 73,564,120 (GRCm39) V549M probably damaging Het
Mmp17 A G 5: 129,679,271 (GRCm39) D390G probably damaging Het
Mrps10 T G 17: 47,683,371 (GRCm39) I102R probably damaging Het
Mycbp2 A G 14: 103,450,155 (GRCm39) L1712P probably damaging Het
Nipal2 A G 15: 34,584,815 (GRCm39) M251T probably damaging Het
Nup160 G A 2: 90,548,440 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,571 (GRCm39) V153D probably benign Het
Or6f2 T C 7: 139,756,255 (GRCm39) I74T probably damaging Het
Pdcd11 G A 19: 47,081,337 (GRCm39) D34N possibly damaging Het
Pigb G T 9: 72,924,809 (GRCm39) P450Q probably damaging Het
Radil A C 5: 142,474,256 (GRCm39) L730R probably damaging Het
Rsbn1 G T 3: 103,821,538 (GRCm39) probably benign Het
Sec24b T C 3: 129,805,467 (GRCm39) D264G probably damaging Het
Shank3 C G 15: 89,431,973 (GRCm39) S906C probably damaging Het
Slc1a3 A G 15: 8,672,459 (GRCm39) V340A possibly damaging Het
Slc1a3 A T 15: 8,680,423 (GRCm39) I145N possibly damaging Het
Slc35f4 A T 14: 49,541,681 (GRCm39) S208T possibly damaging Het
Spopfm1 A G 3: 94,173,862 (GRCm39) N290S probably benign Het
Tmem132b A G 5: 125,715,380 (GRCm39) D363G probably benign Het
Tox3 T G 8: 91,001,309 (GRCm39) N34T probably damaging Het
Vmn1r231 T A 17: 21,110,001 (GRCm39) I305L probably benign Het
Vps18 A G 2: 119,120,711 (GRCm39) I57V possibly damaging Het
Zfhx4 T G 3: 5,464,603 (GRCm39) L1587R probably damaging Het
Zfp112 A G 7: 23,825,322 (GRCm39) N430S probably benign 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
R6130:Ccdc39 UTSW 3 33,895,341 (GRCm39) splice site probably null
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
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'- GGAGCTGAATGTCCTGTTCTTC -3'
(R):5'- TTCAAATTGAGGGAACAGCTGGC -3'

Sequencing Primer
(F):5'- CAAAATGCGGATTTCTCTTCTGAGTC -3'
(R):5'- GCAAATGGCAAGCAATAAGTCTTC -3'
Posted On 2021-01-18