Incidental Mutation 'IGL02427:Ccdc154'
ID292977
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc154
Ensembl Gene ENSMUSG00000059562
Gene Namecoiled-coil domain containing 154
SynonymsLOC207209
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02427
Quality Score
Status
Chromosome17
Chromosomal Location25162461-25171913 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 25171757 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000138090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073277] [ENSMUST00000182292] [ENSMUST00000182621] [ENSMUST00000183178] [ENSMUST00000224277]
Predicted Effect probably null
Transcript: ENSMUST00000073277
SMART Domains Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 48 578 1.4e-263 PFAM
low complexity region 631 642 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182292
SMART Domains Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 47 571 1.3e-250 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000182621
SMART Domains Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 47 573 2.9e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183178
SMART Domains Protein: ENSMUSP00000138659
Gene: ENSMUSG00000059562

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000224277
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,244,788 V647E probably damaging Het
A930011G23Rik C T 5: 99,233,970 G311D probably damaging Het
Ablim1 A T 19: 57,079,880 probably benign Het
Adgrg2 T C X: 160,491,404 F863S probably damaging Het
B3galt2 A T 1: 143,646,516 H130L probably benign Het
Bbs2 G A 8: 94,081,118 P378S possibly damaging Het
Ccdc88c C T 12: 100,921,592 C1543Y probably damaging Het
Cfap77 A T 2: 28,955,580 C258* probably null Het
Cpsf4l T G 11: 113,709,498 probably benign Het
Csrnp3 G A 2: 65,878,036 probably benign Het
Cul9 G A 17: 46,502,632 T2305I possibly damaging Het
Cwf19l1 G A 19: 44,133,023 Q29* probably null Het
Cwf19l2 G T 9: 3,456,817 V717L probably benign Het
Cyp1a1 A G 9: 57,700,575 Y162C probably damaging Het
Dlg5 T C 14: 24,166,207 D589G probably damaging Het
Dmbt1 G T 7: 131,088,085 probably null Het
Dtna T C 18: 23,651,538 Y705H possibly damaging Het
Fam129a A T 1: 151,717,274 D570V probably damaging Het
Fancd2 T A 6: 113,549,352 probably null Het
Frem2 T A 3: 53,535,763 N2527Y probably damaging Het
Gm7694 T C 1: 170,302,544 D95G probably benign Het
Haus5 T C 7: 30,661,771 T115A probably benign Het
Kdm3a A T 6: 71,592,200 probably benign Het
Klra6 T C 6: 130,016,717 D197G possibly damaging Het
Lap3 T C 5: 45,511,133 V429A probably damaging Het
Mroh2b G T 15: 4,951,560 probably benign Het
Myh9 T A 15: 77,775,804 Q88L probably damaging Het
Myo5a T C 9: 75,176,618 probably benign Het
Negr1 C T 3: 156,562,190 probably benign Het
Nlrp9b T G 7: 20,042,501 C337W probably damaging Het
Obscn A T 11: 59,067,162 C3780S probably damaging Het
Olfr378 A T 11: 73,425,661 F107L probably damaging Het
Piwil2 T A 14: 70,398,134 probably benign Het
Ppp6r3 T C 19: 3,466,580 S213G probably null Het
Pxdn T A 12: 29,984,532 C39S probably damaging Het
Raf1 T C 6: 115,631,327 N241S probably benign Het
Rapgef3 A T 15: 97,747,136 probably null Het
Rhox2h C T X: 37,672,873 G72D probably benign Het
Sbf1 T C 15: 89,305,985 probably benign Het
Sema5a T C 15: 32,673,544 probably benign Het
Setbp1 T C 18: 78,857,473 D993G probably damaging Het
Slc5a4b A T 10: 76,058,879 C598S possibly damaging Het
Sorl1 T C 9: 42,041,690 D685G probably damaging Het
Sulf2 C T 2: 166,089,298 R263H probably damaging Het
Tbx22 C A X: 107,681,171 P17T probably damaging Het
Tspoap1 A T 11: 87,762,515 T136S probably benign Het
Tyw5 T C 1: 57,388,725 E240G possibly damaging Het
Umodl1 C T 17: 30,968,441 probably benign Het
Vmn1r60 T C 7: 5,544,781 T107A probably damaging Het
Zbbx T C 3: 75,139,598 T121A probably benign Het
Zbtb11 A G 16: 55,982,350 D241G possibly damaging Het
Zfp445 T C 9: 122,852,230 H882R probably benign Het
Zscan30 T C 18: 23,971,476 noncoding transcript Het
Other mutations in Ccdc154
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Ccdc154 APN 17 25167818 critical splice donor site probably null
IGL03188:Ccdc154 APN 17 25164093 critical splice acceptor site probably null
R0256:Ccdc154 UTSW 17 25170632 missense probably benign 0.19
R0328:Ccdc154 UTSW 17 25171805 missense probably benign 0.25
R0583:Ccdc154 UTSW 17 25168424 missense possibly damaging 0.60
R0671:Ccdc154 UTSW 17 25167285 splice site probably benign
R0898:Ccdc154 UTSW 17 25164081 splice site probably benign
R1758:Ccdc154 UTSW 17 25163182 missense probably damaging 0.99
R2165:Ccdc154 UTSW 17 25170890 missense probably damaging 1.00
R2169:Ccdc154 UTSW 17 25170923 missense probably damaging 1.00
R4810:Ccdc154 UTSW 17 25163498 missense probably damaging 1.00
R4853:Ccdc154 UTSW 17 25170967 missense probably damaging 1.00
R4959:Ccdc154 UTSW 17 25170914 missense probably damaging 1.00
R4973:Ccdc154 UTSW 17 25170914 missense probably damaging 1.00
R5040:Ccdc154 UTSW 17 25164592 missense probably benign 0.04
R5153:Ccdc154 UTSW 17 25168341 missense probably damaging 1.00
R5179:Ccdc154 UTSW 17 25171163 missense probably benign 0.43
R5709:Ccdc154 UTSW 17 25170144 missense probably damaging 1.00
R5852:Ccdc154 UTSW 17 25163209 missense probably benign
R5886:Ccdc154 UTSW 17 25171818 missense probably benign
R6191:Ccdc154 UTSW 17 25167971 missense probably damaging 1.00
R7101:Ccdc154 UTSW 17 25163468 missense probably benign 0.00
Posted On2015-04-16