Incidental Mutation 'R5986:Ccdc198'
ID 481671
Institutional Source Beutler Lab
Gene Symbol Ccdc198
Ensembl Gene ENSMUSG00000021850
Gene Name coiled-coil domain containing 198
Synonyms 1700011H14Rik
MMRRC Submission 044166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 49463815-49482902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 49470403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 172 (L172H)
Ref Sequence ENSEMBL: ENSMUSP00000154726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000130853] [ENSMUST00000148109] [ENSMUST00000227113] [ENSMUST00000228936]
AlphaFold Q9CPZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000022398
AA Change: L181H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850
AA Change: L181H

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130853
AA Change: L172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850
AA Change: L172H

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 damaging
Transcript: ENSMUST00000227113
AA Change: L172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228936
AA Change: L172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A T 3: 116,566,145 (GRCm39) F992I probably damaging Het
Ampd1 T C 3: 102,992,713 (GRCm39) F152L probably damaging Het
Ank2 T C 3: 126,806,335 (GRCm39) H602R possibly damaging Het
Ankib1 T C 5: 3,797,071 (GRCm39) D247G probably damaging Het
Bccip T A 7: 133,322,594 (GRCm39) H313Q probably benign Het
Cep250 A G 2: 155,821,197 (GRCm39) E929G probably damaging Het
Chl1 C A 6: 103,686,152 (GRCm39) L954I probably benign Het
Cog5 A T 12: 31,710,716 (GRCm39) D32V probably benign Het
Cyp4f16 C A 17: 32,763,116 (GRCm39) A187E probably benign Het
Dffb A T 4: 154,050,050 (GRCm39) V271E probably damaging Het
Dnah8 A G 17: 31,070,604 (GRCm39) Y4430C possibly damaging Het
Dpp3 T C 19: 4,968,385 (GRCm39) E229G probably benign Het
Fat3 T A 9: 15,909,613 (GRCm39) N2130Y probably benign Het
Kcnk3 T C 5: 30,745,722 (GRCm39) V21A possibly damaging Het
Kif9 G A 9: 110,319,094 (GRCm39) S186N probably benign Het
Lhfpl3 C A 5: 22,951,424 (GRCm39) N78K probably benign Het
Ly6c1 A G 15: 74,917,457 (GRCm39) S64P probably damaging Het
Mapk10 T C 5: 103,186,446 (GRCm39) T59A probably benign Het
Mars1 A T 10: 127,140,171 (GRCm39) C394* probably null Het
Mettl16 T A 11: 74,683,063 (GRCm39) D168E possibly damaging Het
Mgat2 A T 12: 69,232,158 (GRCm39) Q244L probably benign Het
Mrps30 A G 13: 118,521,101 (GRCm39) probably null Het
Myrip C A 9: 120,290,487 (GRCm39) A702E probably damaging Het
Nepn T C 10: 52,280,168 (GRCm39) L420P probably damaging Het
Nrn1 A T 13: 36,918,238 (GRCm39) Y9* probably null Het
Nup107 T C 10: 117,595,081 (GRCm39) Y752C probably damaging Het
Nutm2 A T 13: 50,628,496 (GRCm39) D520V probably damaging Het
Olfm2 C T 9: 20,586,946 (GRCm39) C48Y probably damaging Het
Or52j3 T C 7: 102,836,735 (GRCm39) F309S possibly damaging Het
Or8g19 A G 9: 39,056,278 (GRCm39) N294S probably null Het
Osbpl1a T A 18: 13,038,138 (GRCm39) D271V probably damaging Het
Osmr G T 15: 6,873,934 (GRCm39) D154E probably benign Het
Pcdh9 A G 14: 94,124,484 (GRCm39) V562A probably damaging Het
Peak1 A C 9: 56,166,726 (GRCm39) S401A probably benign Het
Pigk A T 3: 152,446,486 (GRCm39) H195L probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Ppp2r1a C T 17: 21,171,608 (GRCm39) R28C probably damaging Het
Pramel30 G T 4: 144,059,323 (GRCm39) V345F probably damaging Het
Ptbp3 T C 4: 59,493,311 (GRCm39) D123G probably benign Het
Ptgr2 G A 12: 84,355,120 (GRCm39) E285K possibly damaging Het
Rassf1 G T 9: 107,429,021 (GRCm39) V76L possibly damaging Het
Sec22a A G 16: 35,134,461 (GRCm39) V307A probably damaging Het
Skint5 C T 4: 113,852,845 (GRCm39) V18I probably benign Het
Slc1a5 T C 7: 16,516,151 (GRCm39) V109A probably benign Het
St8sia5 T A 18: 77,342,478 (GRCm39) M396K possibly damaging Het
Tiam1 T C 16: 89,586,074 (GRCm39) E602G probably benign Het
Tll1 T C 8: 64,527,297 (GRCm39) E408G probably damaging Het
Tpsb2 G A 17: 25,586,108 (GRCm39) V109M probably benign Het
Trib1 T A 15: 59,526,451 (GRCm39) probably null Het
Trio G T 15: 27,852,019 (GRCm39) A765E possibly damaging Het
Uggt2 A T 14: 119,286,838 (GRCm39) V193E probably damaging Het
Vmn1r115 G A 7: 20,578,447 (GRCm39) P155L probably benign Het
Wdr31 A G 4: 62,374,113 (GRCm39) L292S probably benign Het
Xrra1 T C 7: 99,525,462 (GRCm39) I127T probably benign Het
Yju2 G A 17: 56,269,030 (GRCm39) C46Y probably damaging Het
Zfp442 G A 2: 150,249,944 (GRCm39) Q596* probably null Het
Other mutations in Ccdc198
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Ccdc198 APN 14 49,473,341 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- ACACCCCGTGAAATGTTTTAC -3'
(R):5'- GGTTCTATCCTCTGTAATTCCAAACAC -3'

Sequencing Primer
(F):5'- TACTAAAGAAATGGCTCACCTGG -3'
(R):5'- TCTCTGAGACAGTGAGCATGCTC -3'
Posted On 2017-06-26