Incidental Mutation 'IGL02133:Ccdc198'
ID 281062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc198
Ensembl Gene ENSMUSG00000021850
Gene Name coiled-coil domain containing 198
Synonyms 1700011H14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02133
Quality Score
Status
Chromosome 14
Chromosomal Location 49463815-49482902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49470424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 165 (Q165L)
Ref Sequence ENSEMBL: ENSMUSP00000153946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000130853] [ENSMUST00000148109] [ENSMUST00000227113] [ENSMUST00000228936]
AlphaFold Q9CPZ1
Predicted Effect probably benign
Transcript: ENSMUST00000022398
AA Change: Q174L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: Q174L

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130853
AA Change: Q165L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: Q165L

DomainStartEndE-ValueType
Pfam:DUF4619 1 217 4.8e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148109
SMART Domains Protein: ENSMUSP00000114834
Gene: ENSMUSG00000021850

DomainStartEndE-ValueType
Pfam:DUF4619 1 65 3.4e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000227113
AA Change: Q165L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000228936
AA Change: Q165L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik G T 11: 52,294,337 (GRCm39) A193S probably damaging Het
Adam4 A G 12: 81,466,803 (GRCm39) V606A probably benign Het
Atp2c2 A G 8: 120,481,074 (GRCm39) I821V probably benign Het
Bmi1 A T 2: 18,688,488 (GRCm39) R160W probably damaging Het
Ccdc88c G A 12: 100,906,349 (GRCm39) R1062C probably damaging Het
Cntnap3 A T 13: 64,899,487 (GRCm39) probably benign Het
Col20a1 C T 2: 180,648,937 (GRCm39) T940I probably damaging Het
Csmd3 A C 15: 47,721,338 (GRCm39) M1535R possibly damaging Het
Dhx38 C A 8: 110,284,873 (GRCm39) E487* probably null Het
Fam186b A G 15: 99,171,584 (GRCm39) S888P probably damaging Het
Fancm G A 12: 65,153,249 (GRCm39) G1235D probably benign Het
Grin3a C T 4: 49,792,946 (GRCm39) W262* probably null Het
Gtdc1 A T 2: 44,465,455 (GRCm39) M305K probably damaging Het
H2-M9 T C 17: 36,952,629 (GRCm39) E139G possibly damaging Het
Haus1 A T 18: 77,854,611 (GRCm39) L53Q probably damaging Het
Hgfac A G 5: 35,203,931 (GRCm39) Y483C probably damaging Het
Hipk2 C T 6: 38,796,069 (GRCm39) V67I probably benign Het
Kbtbd8 T C 6: 95,098,713 (GRCm39) probably benign Het
Kndc1 A G 7: 139,500,683 (GRCm39) T683A probably benign Het
Ldhb A T 6: 142,438,226 (GRCm39) M277K probably benign Het
Mgam T C 6: 40,620,010 (GRCm39) L33P probably damaging Het
Ndst1 A G 18: 60,832,618 (GRCm39) F571L probably benign Het
Neb G T 2: 52,102,816 (GRCm39) probably null Het
Nrxn1 A G 17: 90,950,671 (GRCm39) S503P probably damaging Het
Paqr3 A G 5: 97,243,790 (GRCm39) V308A probably benign Het
Scnn1g T C 7: 121,342,922 (GRCm39) F292L probably damaging Het
Stk3 A G 15: 35,099,662 (GRCm39) F88S probably damaging Het
Tcaf2 T A 6: 42,604,330 (GRCm39) E683V probably benign Het
Tprkb T C 6: 85,904,893 (GRCm39) V123A probably benign Het
Ush2a T C 1: 188,175,540 (GRCm39) Y1213H probably damaging Het
Vwa5b1 A G 4: 138,313,868 (GRCm39) probably null Het
Wls A G 3: 159,603,007 (GRCm39) Y140C probably damaging Het
Zan A G 5: 137,409,760 (GRCm39) S28P possibly damaging Het
Other mutations in Ccdc198
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Ccdc198 APN 14 49,473,341 (GRCm39) missense probably benign 0.02
IGL03325:Ccdc198 APN 14 49,481,277 (GRCm39) splice site probably benign
R1751:Ccdc198 UTSW 14 49,473,341 (GRCm39) missense probably benign 0.09
R1767:Ccdc198 UTSW 14 49,473,341 (GRCm39) missense probably benign 0.09
R1846:Ccdc198 UTSW 14 49,473,420 (GRCm39) missense probably damaging 1.00
R1908:Ccdc198 UTSW 14 49,464,032 (GRCm39) missense probably damaging 1.00
R4563:Ccdc198 UTSW 14 49,471,955 (GRCm39) missense probably benign 0.27
R4883:Ccdc198 UTSW 14 49,482,560 (GRCm39) missense probably damaging 1.00
R4915:Ccdc198 UTSW 14 49,470,351 (GRCm39) missense probably benign 0.01
R5381:Ccdc198 UTSW 14 49,470,364 (GRCm39) missense probably damaging 1.00
R5986:Ccdc198 UTSW 14 49,470,403 (GRCm39) missense probably damaging 1.00
R6379:Ccdc198 UTSW 14 49,481,191 (GRCm39) missense probably benign 0.02
R6829:Ccdc198 UTSW 14 49,464,025 (GRCm39) makesense probably null
R6841:Ccdc198 UTSW 14 49,481,270 (GRCm39) critical splice acceptor site probably null
R7337:Ccdc198 UTSW 14 49,471,948 (GRCm39) missense possibly damaging 0.94
R8327:Ccdc198 UTSW 14 49,470,356 (GRCm39) missense possibly damaging 0.76
R9154:Ccdc198 UTSW 14 49,473,367 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16