Incidental Mutation 'IGL01473:Ccdc151'
ID 88366
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc151
Ensembl Gene ENSMUSG00000039632
Gene Name coiled-coil domain containing 151
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01473
Quality Score
Status
Chromosome 9
Chromosomal Location 21989871-22002634 bp(-) (GRCm38)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to A at 21995379 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044926] [ENSMUST00000115336]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000044926
SMART Domains Protein: ENSMUSP00000041117
Gene: ENSMUSG00000039632

DomainStartEndE-ValueType
coiled coil region 88 286 N/A INTRINSIC
low complexity region 334 345 N/A INTRINSIC
coiled coil region 378 420 N/A INTRINSIC
low complexity region 495 514 N/A INTRINSIC
low complexity region 550 565 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115336
SMART Domains Protein: ENSMUSP00000110993
Gene: ENSMUSG00000039632

DomainStartEndE-ValueType
coiled coil region 88 286 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
coiled coil region 379 421 N/A INTRINSIC
low complexity region 496 515 N/A INTRINSIC
low complexity region 551 566 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214420
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mico homozygous for an ENU-induced allele exhibit dextrocardia associated with situs inversus totalis and hypoplastic spleen, adrenal anomalies and immotile/dyskinetic tracheal airway cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T C 16: 29,316,724 Y350C probably damaging Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Clcn1 C A 6: 42,291,703 A181D probably damaging Het
Cylc1 G T X: 111,122,680 K243N unknown Het
Dsp A G 13: 38,167,571 Y122C probably damaging Het
Exoc5 A G 14: 49,014,294 V665A possibly damaging Het
Fcho1 G A 8: 71,712,138 P500S probably benign Het
Flg2 A G 3: 93,203,020 E785G unknown Het
Fpr1 A G 17: 17,877,692 S12P possibly damaging Het
Hydin A T 8: 110,312,160 M177L probably benign Het
Hydin G T 8: 110,354,953 G327V probably damaging Het
Itga10 G A 3: 96,647,641 G97E probably damaging Het
Khdc1c T A 1: 21,368,906 Y39N possibly damaging Het
Lrp1b T G 2: 40,611,486 T202P probably damaging Het
March10 T C 11: 105,389,605 K618R probably damaging Het
Mdc1 C A 17: 35,848,020 L431I probably benign Het
Mmp17 A G 5: 129,606,408 D536G probably benign Het
Myh8 G A 11: 67,301,825 probably null Het
Pop4 A G 7: 38,264,396 V154A probably benign Het
Ppp1r13l C T 7: 19,375,268 R608C probably damaging Het
Prss36 T C 7: 127,944,701 H166R probably damaging Het
Rab11fip3 C T 17: 26,068,735 R148Q possibly damaging Het
Rbm39 T A 2: 156,172,979 R49* probably null Het
S100a11 T C 3: 93,526,106 C86R probably damaging Het
Skint7 T C 4: 111,982,205 I232T probably damaging Het
Smchd1 G A 17: 71,389,750 T1210I probably benign Het
Speg C T 1: 75,428,285 T2907I possibly damaging Het
Spz1 A T 13: 92,575,256 C237* probably null Het
Sun3 G T 11: 9,029,394 D42E probably benign Het
Tgds C T 14: 118,128,214 probably benign Het
Tnxb G A 17: 34,685,701 D1270N probably damaging Het
Vmn2r78 A C 7: 86,920,312 T138P possibly damaging Het
Wdfy1 T C 1: 79,707,465 I351V probably benign Het
Other mutations in Ccdc151
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01922:Ccdc151 APN 9 21993530 unclassified probably benign
IGL02223:Ccdc151 APN 9 21993612 missense probably damaging 1.00
IGL03161:Ccdc151 APN 9 22002315 missense probably benign 0.02
IGL03269:Ccdc151 APN 9 21998043 critical splice donor site probably null
R0118:Ccdc151 UTSW 9 21995057 missense probably benign 0.03
R0129:Ccdc151 UTSW 9 21993552 missense probably damaging 0.98
R0279:Ccdc151 UTSW 9 21990247 unclassified probably benign
R0390:Ccdc151 UTSW 9 21991708 missense probably benign 0.00
R1349:Ccdc151 UTSW 9 21993620 missense probably damaging 1.00
R1372:Ccdc151 UTSW 9 21993620 missense probably damaging 1.00
R1891:Ccdc151 UTSW 9 21995381 splice site probably null
R2044:Ccdc151 UTSW 9 21991858 missense possibly damaging 0.95
R5116:Ccdc151 UTSW 9 21990128 makesense probably null
R5147:Ccdc151 UTSW 9 21994862 missense probably benign 0.21
R5929:Ccdc151 UTSW 9 22002422 missense possibly damaging 0.50
R6182:Ccdc151 UTSW 9 21990402 missense probably damaging 1.00
R7253:Ccdc151 UTSW 9 22002471 missense probably damaging 1.00
R7498:Ccdc151 UTSW 9 22002257 missense probably damaging 1.00
R7742:Ccdc151 UTSW 9 21992897 missense possibly damaging 0.82
R8331:Ccdc151 UTSW 9 21991711 missense probably damaging 1.00
R8976:Ccdc151 UTSW 9 21992038 unclassified probably benign
R9319:Ccdc151 UTSW 9 21994907 missense probably damaging 1.00
R9324:Ccdc151 UTSW 9 21991911 missense probably damaging 1.00
R9422:Ccdc151 UTSW 9 22002332 missense possibly damaging 0.55
R9614:Ccdc151 UTSW 9 21993014 missense probably benign 0.02
Z1176:Ccdc151 UTSW 9 21990424 missense possibly damaging 0.77
Posted On 2013-11-18