Incidental Mutation 'R5179:Ccdc154'
ID 399431
Institutional Source Beutler Lab
Gene Symbol Ccdc154
Ensembl Gene ENSMUSG00000059562
Gene Name coiled-coil domain containing 154
Synonyms ntl, LOC207209
MMRRC Submission 042759-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5179 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 25381435-25390887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25390137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 545 (N545S)
Ref Sequence ENSEMBL: ENSMUSP00000138191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073277] [ENSMUST00000182292] [ENSMUST00000182621] [ENSMUST00000183178] [ENSMUST00000224277]
AlphaFold Q6RUT8
Predicted Effect probably benign
Transcript: ENSMUST00000073277
AA Change: N552S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: N552S

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 benign
Transcript: ENSMUST00000182292
AA Change: N545S

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: N545S

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 47 571 1.3e-250 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182621
AA Change: N547S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: N547S

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
Meta Mutation Damage Score 0.0835 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B9d2 C A 7: 25,380,826 (GRCm39) H5Q probably damaging Het
Bhlhe40 T C 6: 108,642,169 (GRCm39) I371T possibly damaging Het
Bmp8a C T 4: 123,207,094 (GRCm39) R389H probably damaging Het
Cc2d2a T A 5: 43,845,563 (GRCm39) N326K possibly damaging Het
Ccser2 A T 14: 36,601,308 (GRCm39) S359T possibly damaging Het
Cd22 T A 7: 30,575,299 (GRCm39) T248S possibly damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,363,759 (GRCm39) I4107T probably damaging Het
Egf T A 3: 129,479,936 (GRCm39) H488L probably damaging Het
Epb41l4b A G 4: 57,063,181 (GRCm39) V503A probably benign Het
Exd2 G T 12: 80,531,118 (GRCm39) W105L probably damaging Het
Flrt2 A T 12: 95,747,121 (GRCm39) R486S probably benign Het
Gadl1 C A 9: 115,789,448 (GRCm39) C251* probably null Het
Ifit2 C A 19: 34,550,976 (GRCm39) P172Q probably damaging Het
Incenp G C 19: 9,872,273 (GRCm39) Q62E unknown Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lrg1 A G 17: 56,427,795 (GRCm39) L59P possibly damaging Het
Luc7l3 T C 11: 94,190,879 (GRCm39) E145G possibly damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Ndst3 A G 3: 123,346,181 (GRCm39) S698P probably damaging Het
Nploc4 T C 11: 120,299,682 (GRCm39) D346G probably benign Het
Or4m1 G A 14: 50,557,993 (GRCm39) Q100* probably null Het
Or56b1b T C 7: 108,164,433 (GRCm39) I190V probably benign Het
Osbpl8 T G 10: 111,108,025 (GRCm39) D298E probably benign Het
Pcna-ps2 T C 19: 9,260,891 (GRCm39) L50P probably damaging Het
Ptgir C T 7: 16,641,253 (GRCm39) P182S probably damaging Het
Rictor A G 15: 6,825,421 (GRCm39) Y1653C probably damaging Het
Sgcd T A 11: 46,871,711 (GRCm39) E208V probably benign Het
Slc7a8 A T 14: 54,962,289 (GRCm39) C448* probably null Het
Sos2 G A 12: 69,697,502 (GRCm39) R73* probably null Het
Tecpr2 A G 12: 110,911,127 (GRCm39) T1055A possibly damaging Het
Usp47 T C 7: 111,692,639 (GRCm39) Y1014H probably damaging Het
Vmn2r6 A T 3: 64,445,411 (GRCm39) F682L probably benign Het
Other mutations in Ccdc154
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Ccdc154 APN 17 25,386,792 (GRCm39) critical splice donor site probably null
IGL02427:Ccdc154 APN 17 25,390,731 (GRCm39) critical splice acceptor site probably null
IGL03188:Ccdc154 APN 17 25,383,067 (GRCm39) critical splice acceptor site probably null
R0256:Ccdc154 UTSW 17 25,389,606 (GRCm39) missense probably benign 0.19
R0328:Ccdc154 UTSW 17 25,390,779 (GRCm39) missense probably benign 0.25
R0583:Ccdc154 UTSW 17 25,387,398 (GRCm39) missense possibly damaging 0.60
R0671:Ccdc154 UTSW 17 25,386,259 (GRCm39) splice site probably benign
R0898:Ccdc154 UTSW 17 25,383,055 (GRCm39) splice site probably benign
R1758:Ccdc154 UTSW 17 25,382,156 (GRCm39) missense probably damaging 0.99
R2165:Ccdc154 UTSW 17 25,389,864 (GRCm39) missense probably damaging 1.00
R2169:Ccdc154 UTSW 17 25,389,897 (GRCm39) missense probably damaging 1.00
R4810:Ccdc154 UTSW 17 25,382,472 (GRCm39) missense probably damaging 1.00
R4853:Ccdc154 UTSW 17 25,389,941 (GRCm39) missense probably damaging 1.00
R4959:Ccdc154 UTSW 17 25,389,888 (GRCm39) missense probably damaging 1.00
R4973:Ccdc154 UTSW 17 25,389,888 (GRCm39) missense probably damaging 1.00
R5040:Ccdc154 UTSW 17 25,383,566 (GRCm39) missense probably benign 0.04
R5153:Ccdc154 UTSW 17 25,387,315 (GRCm39) missense probably damaging 1.00
R5709:Ccdc154 UTSW 17 25,389,118 (GRCm39) missense probably damaging 1.00
R5852:Ccdc154 UTSW 17 25,382,183 (GRCm39) missense probably benign
R5886:Ccdc154 UTSW 17 25,390,792 (GRCm39) missense probably benign
R6191:Ccdc154 UTSW 17 25,386,945 (GRCm39) missense probably damaging 1.00
R7101:Ccdc154 UTSW 17 25,382,442 (GRCm39) missense probably benign 0.00
R7888:Ccdc154 UTSW 17 25,383,578 (GRCm39) missense possibly damaging 0.94
R7896:Ccdc154 UTSW 17 25,390,800 (GRCm39) missense probably benign 0.00
R8331:Ccdc154 UTSW 17 25,386,927 (GRCm39) missense probably benign 0.29
R8334:Ccdc154 UTSW 17 25,390,581 (GRCm39) missense probably damaging 1.00
R8845:Ccdc154 UTSW 17 25,390,138 (GRCm39) missense probably damaging 0.98
R8880:Ccdc154 UTSW 17 25,389,129 (GRCm39) missense probably benign 0.04
R9040:Ccdc154 UTSW 17 25,382,793 (GRCm39) missense possibly damaging 0.87
R9153:Ccdc154 UTSW 17 25,382,152 (GRCm39) missense probably damaging 0.99
R9262:Ccdc154 UTSW 17 25,389,160 (GRCm39) missense probably damaging 0.97
R9564:Ccdc154 UTSW 17 25,387,381 (GRCm39) missense possibly damaging 0.71
R9621:Ccdc154 UTSW 17 25,386,355 (GRCm39) missense probably damaging 1.00
R9654:Ccdc154 UTSW 17 25,386,684 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- AACCCTGGACGGAAGATTGC -3'
(R):5'- AGTTTTCACCTCCAGGAAGCAC -3'

Sequencing Primer
(F):5'- ATTGCTGAGATCCAGGGGC -3'
(R):5'- TCCAGGAAGCACTGTTCAGC -3'
Posted On 2016-07-06