Incidental Mutation 'R6191:Ccdc154'
ID 502600
Institutional Source Beutler Lab
Gene Symbol Ccdc154
Ensembl Gene ENSMUSG00000059562
Gene Name coiled-coil domain containing 154
Synonyms ntl, LOC207209
MMRRC Submission 044331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6191 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25381435-25390887 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 25386945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 325 (Q325K)
Ref Sequence ENSEMBL: ENSMUSP00000138090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073277] [ENSMUST00000182292] [ENSMUST00000182621] [ENSMUST00000183178] [ENSMUST00000224277]
AlphaFold Q6RUT8
Predicted Effect possibly damaging
Transcript: ENSMUST00000073277
AA Change: Q332K

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073002
Gene: ENSMUSG00000059562
AA Change: Q332K

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 damaging
Transcript: ENSMUST00000182292
AA Change: Q323K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138191
Gene: ENSMUSG00000059562
AA Change: Q323K

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:DUF4631 47 571 1.3e-250 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182621
AA Change: Q325K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138090
Gene: ENSMUSG00000059562
AA Change: Q325K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik A C 9: 55,909,807 (GRCm39) D144E possibly damaging Het
Amigo2 T A 15: 97,143,419 (GRCm39) K334N probably benign Het
Ano6 T C 15: 95,846,380 (GRCm39) probably null Het
Ap1m2 C A 9: 21,210,601 (GRCm39) V343F probably benign Het
Apol6 T C 15: 76,940,098 (GRCm39) V307A probably benign Het
Arsi C A 18: 61,045,544 (GRCm39) A78E probably damaging Het
B2m A T 2: 121,981,396 (GRCm39) N37I possibly damaging Het
Bltp3b G T 10: 89,641,180 (GRCm39) G784C possibly damaging Het
C8a T C 4: 104,703,100 (GRCm39) K363R probably benign Het
Ccdc117 C A 11: 5,484,242 (GRCm39) probably null Het
Cd300e A T 11: 114,945,359 (GRCm39) V145E possibly damaging Het
Col19a1 G T 1: 24,356,474 (GRCm39) P673Q probably damaging Het
Csn2 A G 5: 87,843,885 (GRCm39) probably null Het
Ctnna1 T C 18: 35,307,408 (GRCm39) V135A probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dnah12 A G 14: 26,431,412 (GRCm39) H410R probably benign Het
Dock2 C T 11: 34,181,652 (GRCm39) R1637H possibly damaging Het
Dspp A G 5: 104,325,214 (GRCm39) N526D unknown Het
Frem2 T C 3: 53,562,701 (GRCm39) H602R probably benign Het
Galc A T 12: 98,218,293 (GRCm39) H186Q probably damaging Het
Grina T C 15: 76,133,218 (GRCm39) V262A probably damaging Het
Gse1 G A 8: 121,280,542 (GRCm39) probably null Het
H2-Oa C A 17: 34,312,842 (GRCm39) Q40K probably damaging Het
Hfm1 C A 5: 107,034,419 (GRCm39) D763Y possibly damaging Het
Hmcn2 T A 2: 31,348,758 (GRCm39) Y4925N probably damaging Het
Hs3st3b1 C A 11: 63,780,029 (GRCm39) R366L probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Iqank1 T C 15: 75,918,218 (GRCm39) probably null Het
Itpr2 A G 6: 146,229,833 (GRCm39) V1221A probably benign Het
Kdm6b T C 11: 69,297,584 (GRCm39) N285S probably benign Het
Klk1b1 T A 7: 43,620,081 (GRCm39) N181K probably damaging Het
Kmt2a C A 9: 44,738,125 (GRCm39) probably benign Het
Lama5 T C 2: 179,827,752 (GRCm39) D2170G probably damaging Het
Lama5 T A 2: 179,822,404 (GRCm39) T2890S probably damaging Het
Lsm2 T A 17: 35,201,131 (GRCm39) probably benign Het
Map3k5 G T 10: 19,899,415 (GRCm39) C232F probably damaging Het
Mapk9 T G 11: 49,754,383 (GRCm39) D45E probably damaging Het
Mpnd T C 17: 56,319,482 (GRCm39) V315A possibly damaging Het
Msh2 A G 17: 88,030,900 (GRCm39) I926V probably benign Het
Mtcl1 C T 17: 66,650,521 (GRCm39) R1345H probably damaging Het
Nbeal2 A G 9: 110,457,058 (GRCm39) probably null Het
Neo1 T C 9: 58,796,312 (GRCm39) D1205G probably damaging Het
Nhlrc2 A G 19: 56,559,291 (GRCm39) S259G probably benign Het
Nkain4 G A 2: 180,577,796 (GRCm39) P186L probably damaging Het
Nkain4 G A 2: 180,577,797 (GRCm39) P186S probably damaging Het
Nlrp1b T A 11: 71,109,283 (GRCm39) R73* probably null Het
Nr5a2 T C 1: 136,818,536 (GRCm39) D330G probably damaging Het
Nup54 A G 5: 92,572,153 (GRCm39) L299P probably damaging Het
Or2v1 T C 11: 49,025,877 (GRCm39) L286P probably damaging Het
Or5aq7 A G 2: 86,938,296 (GRCm39) V145A probably damaging Het
Pcdhb8 T A 18: 37,489,279 (GRCm39) V319E probably benign Het
Pcsk6 T A 7: 65,578,875 (GRCm39) D129E probably benign Het
Pld5 G A 1: 175,798,100 (GRCm39) T433I probably benign Het
Plin1 A T 7: 79,371,347 (GRCm39) L459H probably benign Het
Psd4 T C 2: 24,284,499 (GRCm39) V121A probably damaging Het
Pxdn A T 12: 30,032,716 (GRCm39) I167F possibly damaging Het
R3hdm2 T C 10: 127,320,384 (GRCm39) S569P probably damaging Het
Rfng T A 11: 120,673,516 (GRCm39) T202S probably damaging Het
Robo1 T C 16: 72,730,696 (GRCm39) S266P probably benign Het
Sema3c G T 5: 17,858,804 (GRCm39) V68L probably damaging Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Slfn8 A G 11: 82,907,626 (GRCm39) Y306H possibly damaging Het
Snap91 T C 9: 86,720,105 (GRCm39) D144G probably damaging Het
St7l T G 3: 104,775,349 (GRCm39) F75C probably damaging Het
Stard10 A G 7: 100,992,468 (GRCm39) I145V probably damaging Het
Tekt3 C T 11: 62,968,999 (GRCm39) A242V probably damaging Het
Tex44 A G 1: 86,354,306 (GRCm39) probably benign Het
Thg1l T C 11: 45,844,988 (GRCm39) Q88R probably benign Het
Trav8n-2 T A 14: 53,583,744 (GRCm39) I67N probably damaging Het
Ttn G A 2: 76,677,770 (GRCm39) probably benign Het
Ube4a A T 9: 44,861,051 (GRCm39) L253* probably null Het
Uggt1 A T 1: 36,201,289 (GRCm39) N1150K probably damaging Het
Ush2a T A 1: 187,995,298 (GRCm39) L23* probably null Het
Usp22 T A 11: 61,065,602 (GRCm39) N37I probably benign Het
Usp53 T A 3: 122,743,390 (GRCm39) K515N probably damaging Het
Vmn2r4 T C 3: 64,322,702 (GRCm39) K6E probably benign Het
Vps13d C T 4: 144,875,918 (GRCm39) V1530M probably damaging Het
Vwa3b A G 1: 37,153,612 (GRCm39) I485V possibly damaging Het
Wnk4 T C 11: 101,155,156 (GRCm39) Y356H probably damaging Het
Zcchc2 A G 1: 105,917,900 (GRCm39) probably benign Het
Zfp345 A C 2: 150,315,010 (GRCm39) Y176D probably benign Het
Zfp598 T C 17: 24,896,850 (GRCm39) F238S possibly damaging Het
Zkscan17 T C 11: 59,393,820 (GRCm39) D10G probably damaging Het
Zmat4 T G 8: 24,392,083 (GRCm39) M13R probably damaging 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
R5179:Ccdc154 UTSW 17 25,390,137 (GRCm39) missense probably benign 0.43
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
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'- AATCCTCAGAGAGTACACGGC -3'
(R):5'- TCCTGTCATGACGTGTCTAACC -3'

Sequencing Primer
(F):5'- TGACAGAGGAGCGCTTGC -3'
(R):5'- TCTAACCGACAGCTTCAGGG -3'
Posted On 2018-02-27