Incidental Mutation 'IGL01922:Ccdc151'
ID180146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc151
Ensembl Gene ENSMUSG00000039632
Gene Namecoiled-coil domain containing 151
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL01922
Quality Score
Status
Chromosome9
Chromosomal Location21989871-22002634 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to T at 21993530 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044926] [ENSMUST00000045726] [ENSMUST00000115336] [ENSMUST00000214026] [ENSMUST00000215851]
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000045726
SMART Domains Protein: ENSMUSP00000035726
Gene: ENSMUSG00000040146

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
RasGEFN 63 201 1.35e-6 SMART
RasGEF 244 504 2.74e-84 SMART
low complexity region 533 579 N/A INTRINSIC
RA 609 699 3.36e-15 SMART
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000214026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214420
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214713
Predicted Effect probably benign
Transcript: ENSMUST00000215851
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,270,821 K3204R unknown Het
Adam12 C A 7: 133,937,472 G104* probably null Het
Adamtsl1 A G 4: 86,249,902 K477R probably damaging Het
Arhgap35 A C 7: 16,564,255 V295G possibly damaging Het
Cacna1c A T 6: 118,652,668 I1234N probably damaging Het
Cntnap5c A G 17: 58,330,119 E997G possibly damaging Het
Cog6 T C 3: 52,986,425 N601S probably benign Het
Col28a1 G T 6: 8,158,133 D308E probably damaging Het
Cspg4 G A 9: 56,887,887 D969N probably damaging Het
Dhx8 G A 11: 101,739,807 V347I probably damaging Het
Dnah9 G T 11: 66,075,034 probably benign Het
Erap1 T C 13: 74,662,387 Y282H probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-T3 A G 17: 36,187,100 M307T possibly damaging Het
Ifi204 T C 1: 173,761,722 I48V possibly damaging Het
Myh1 T C 11: 67,210,466 probably null Het
Nphp1 T C 2: 127,780,069 Y46C possibly damaging Het
Olfr128 A T 17: 37,923,959 H131L possibly damaging Het
Olfr325 G A 11: 58,581,073 M76I probably benign Het
Piezo1 G T 8: 122,492,692 S1066R probably benign Het
Plekhh1 T C 12: 79,079,579 S1353P probably benign Het
Prl6a1 A T 13: 27,315,360 D37V possibly damaging Het
Scn4a A G 11: 106,339,152 probably null Het
Selenoo T C 15: 89,099,649 V585A probably benign Het
Tmf1 T C 6: 97,176,930 T61A probably benign Het
Tshz3 A G 7: 36,769,605 T340A probably damaging Het
Unc50 A G 1: 37,437,203 D148G probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpc C T 6: 91,505,425 R192H probably damaging Het
Other mutations in Ccdc151
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Ccdc151 APN 9 21995379 critical splice acceptor site probably null
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
Z1176:Ccdc151 UTSW 9 21990424 missense possibly damaging 0.77
Posted On2014-05-07