Incidental Mutation 'IGL03347:Ccdc39'
ID 419505
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc39
Ensembl Gene ENSMUSG00000027676
Gene Name coiled-coil domain containing 39
Synonyms b2b1735Clo, D3Ertd789e, prh, 4921507O14Rik, b2b1304Clo, b2b2025.1Clo
Accession Numbers
Essential gene? Probably essential (E-score: 0.777) question?
Stock # IGL03347
Quality Score
Status
Chromosome 3
Chromosomal Location 33866511-33898459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33891992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 160 (L160P)
Ref Sequence ENSEMBL: ENSMUSP00000029222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222]
AlphaFold Q9D5Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000029222
AA Change: L160P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: L160P

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
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T A 9: 30,870,534 (GRCm39) S670T possibly damaging Het
Adamts9 G T 6: 92,864,413 (GRCm39) Y185* probably null Het
Ahcyl A G 16: 45,974,852 (GRCm39) V175A probably benign Het
Arid3a T A 10: 79,787,113 (GRCm39) S512R possibly damaging Het
Atf6b T C 17: 34,872,214 (GRCm39) V524A probably damaging Het
Camk2d A G 3: 126,590,550 (GRCm39) T254A probably damaging Het
Camsap2 G T 1: 136,208,724 (GRCm39) Q923K possibly damaging Het
Car10 G A 11: 92,991,122 (GRCm39) probably benign Het
Cdh20 A T 1: 110,065,973 (GRCm39) D749V possibly damaging Het
Cox6a2 A T 7: 127,804,900 (GRCm39) probably benign Het
Cpne1 A T 2: 155,921,096 (GRCm39) Y65N probably damaging Het
Dnm1 T C 2: 32,243,199 (GRCm39) D8G probably benign Het
Emsy A G 7: 98,259,892 (GRCm39) S140P probably damaging Het
Fam13b G A 18: 34,595,104 (GRCm39) probably benign Het
Fbn2 T C 18: 58,146,737 (GRCm39) R2720G probably damaging Het
Fkbpl A G 17: 34,865,287 (GRCm39) probably benign Het
Gpr179 A G 11: 97,242,664 (GRCm39) L60P probably damaging Het
Iftap A G 2: 101,413,864 (GRCm39) probably null Het
Igsf10 A T 3: 59,239,321 (GRCm39) S287T possibly damaging Het
Kat2b G A 17: 53,931,379 (GRCm39) probably null Het
Kazald1 A G 19: 45,066,855 (GRCm39) D218G possibly damaging Het
Mbtd1 A G 11: 93,814,005 (GRCm39) E216G probably benign Het
Mtmr9 C A 14: 63,781,016 (GRCm39) V25L probably benign Het
Myo16 A G 8: 10,426,120 (GRCm39) probably null Het
Nfkbil1 A T 17: 35,439,559 (GRCm39) V318E probably damaging Het
Or2ag15 A T 7: 106,340,177 (GRCm39) probably benign Het
Or5g9 T C 2: 85,552,151 (GRCm39) V134A probably benign Het
Pidd1 A G 7: 141,019,081 (GRCm39) V800A probably damaging Het
Ptprs G A 17: 56,742,972 (GRCm39) S390L probably benign Het
Ralgapb G A 2: 158,307,880 (GRCm39) V729I possibly damaging Het
Sfrp5 T A 19: 42,187,207 (GRCm39) M288L probably benign Het
Slc26a1 C A 5: 108,821,676 (GRCm39) G71V probably damaging Het
Srcin1 A T 11: 97,416,170 (GRCm39) S1021T probably damaging Het
Supt6 A T 11: 78,123,011 (GRCm39) M124K possibly damaging Het
Thada A G 17: 84,705,633 (GRCm39) F1157S probably damaging Het
Tmcc2 A G 1: 132,285,390 (GRCm39) S424P probably damaging Het
Trim37 G A 11: 87,092,447 (GRCm39) R752Q possibly damaging Het
Unc80 A T 1: 66,734,625 (GRCm39) Q238L probably damaging Het
Vmn2r23 C A 6: 123,681,333 (GRCm39) H80Q probably benign Het
Wnt9a A T 11: 59,221,740 (GRCm39) T213S probably damaging Het
Zfp953 T A 13: 67,491,490 (GRCm39) Q154L 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
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
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
Posted On 2016-08-02