Incidental Mutation 'IGL01433:Ccdc198'
ID 84232
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 # IGL01433
Quality Score
Status
Chromosome 14
Chromosomal Location 49463815-49482902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 49473341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 128 (T128K)
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: T138K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: T138K

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130853
AA Change: T128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: T128K

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: T128K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000228936
AA Change: T128K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 C T 3: 30,652,188 (GRCm39) G302D probably damaging Het
Adam19 T C 11: 46,003,610 (GRCm39) L146P probably damaging Het
Adcy8 T A 15: 64,609,263 (GRCm39) Y852F possibly damaging Het
Arfgef1 T C 1: 10,223,657 (GRCm39) T1520A probably damaging Het
Atp8b1 C T 18: 64,706,590 (GRCm39) V199I probably benign Het
Avl9 A G 6: 56,730,382 (GRCm39) D575G probably damaging Het
Bcam C A 7: 19,494,107 (GRCm39) V395L possibly damaging Het
Bltp1 T G 3: 36,941,919 (GRCm39) S241R probably damaging Het
Cgn T A 3: 94,686,769 (GRCm39) N178Y probably damaging Het
D5Ertd579e A T 5: 36,776,098 (GRCm39) D168E probably damaging Het
Dnah17 G T 11: 117,940,760 (GRCm39) T3288K probably damaging Het
Ednrb A T 14: 104,080,626 (GRCm39) I96N probably damaging Het
Gdpd3 A G 7: 126,370,356 (GRCm39) I264V possibly damaging Het
Itih4 T C 14: 30,617,405 (GRCm39) V575A probably benign Het
Jhy G A 9: 40,828,512 (GRCm39) R465C possibly damaging Het
Kcna4 C T 2: 107,127,078 (GRCm39) S604F probably damaging Het
Kcnj6 A G 16: 94,633,814 (GRCm39) V99A probably benign Het
Kdm2a A G 19: 4,392,888 (GRCm39) I489T possibly damaging Het
Kif13a A G 13: 46,926,384 (GRCm39) S241P probably damaging Het
Lax1 T C 1: 133,608,137 (GRCm39) I201M probably benign Het
Lzic T A 4: 149,572,604 (GRCm39) S65T probably benign Het
Marchf9 T C 10: 126,892,562 (GRCm39) T309A probably benign Het
Ndufc1 T C 3: 51,314,797 (GRCm39) K70E possibly damaging Het
Optn T C 2: 5,031,955 (GRCm39) K504R probably benign Het
Or51q1 A T 7: 103,628,539 (GRCm39) I53F probably damaging Het
Pagr1a A G 7: 126,614,647 (GRCm39) probably benign Het
Pold1 G A 7: 44,192,656 (GRCm39) probably benign Het
Ptprq A G 10: 107,412,741 (GRCm39) I1786T probably damaging Het
Rgs20 T C 1: 5,140,300 (GRCm39) D34G possibly damaging Het
Rnps1 T C 17: 24,643,519 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,363,834 (GRCm39) V261A probably damaging Het
Sfxn1 A G 13: 54,247,935 (GRCm39) N220S probably benign Het
Slc35f1 T A 10: 52,949,542 (GRCm39) probably benign Het
Slc5a4b T C 10: 75,906,329 (GRCm39) probably benign Het
Snx19 A G 9: 30,340,067 (GRCm39) I402V possibly damaging Het
Spaca6 T C 17: 18,051,429 (GRCm39) V35A probably benign Het
Taar2 A G 10: 23,816,657 (GRCm39) T66A probably benign Het
Tanc2 C T 11: 105,701,348 (GRCm39) H288Y possibly damaging Het
Tbc1d31 A G 15: 57,804,164 (GRCm39) Q393R probably benign Het
Trpm1 A G 7: 63,854,276 (GRCm39) Y133C probably damaging Het
Vmn2r105 T C 17: 20,448,817 (GRCm39) D120G probably benign Het
Vmn2r56 C A 7: 12,449,541 (GRCm39) M232I probably benign Het
Vps35l A G 7: 118,373,274 (GRCm39) probably null Het
Zfp251 C T 15: 76,738,755 (GRCm39) V113I probably benign Het
Other mutations in Ccdc198
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Ccdc198 APN 14 49,470,424 (GRCm39) missense probably benign 0.05
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 2013-11-11