Incidental Mutation 'R3120:Ccdc39'
ID 263164
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 040593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.777) question?
Stock # R3120 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 33866511-33898459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33891987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 162 (K162E)
Ref Sequence ENSEMBL: ENSMUSP00000029222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029222]
AlphaFold Q9D5Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000029222
AA Change: K162E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: K162E

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bsx A G 9: 40,788,908 (GRCm39) K155R possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fam222b T C 11: 78,044,742 (GRCm39) L101P probably damaging Het
Fars2 A G 13: 36,430,400 (GRCm39) E276G probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
H1f5 A T 13: 21,964,215 (GRCm39) S170R probably benign Het
Hbq1a T C 11: 32,250,472 (GRCm39) L87P probably damaging Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L 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
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
Predicted Primers PCR Primer
(F):5'- TGACACTTCATCCCAAAAGGTTC -3'
(R):5'- AGAGCTTGGCTTTCTCCATTTG -3'

Sequencing Primer
(F):5'- GTTCTCAAAGAAGAGCCTGGCC -3'
(R):5'- CCATTTGTTTGGTTGGTAGTATAAAG -3'
Posted On 2015-02-05