Incidental Mutation 'R6841:Ccdc198'
ID 538049
Institutional Source Beutler Lab
Gene Symbol Ccdc198
Ensembl Gene ENSMUSG00000021850
Gene Name coiled-coil domain containing 198
Synonyms 1700011H14Rik
MMRRC Submission 044947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6841 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 49463815-49482902 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 49481270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022398] [ENSMUST00000130853] [ENSMUST00000148109] [ENSMUST00000227113] [ENSMUST00000228936]
AlphaFold Q9CPZ1
Predicted Effect probably null
Transcript: ENSMUST00000022398
SMART Domains Protein: ENSMUSP00000022398
Gene: ENSMUSG00000021850

DomainStartEndE-ValueType
Pfam:DUF4619 1 294 1e-153 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000130853
SMART Domains Protein: ENSMUSP00000117775
Gene: ENSMUSG00000021850

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 null
Transcript: ENSMUST00000227113
Predicted Effect probably null
Transcript: ENSMUST00000228936
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency 99% (71/72)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik G A 11: 6,150,439 (GRCm39) W137* probably null Het
Acads G A 5: 115,250,417 (GRCm39) T169I probably benign Het
Adgrg7 T A 16: 56,570,787 (GRCm39) N414Y probably damaging Het
Ankrd35 T A 3: 96,577,742 (GRCm39) S6T probably damaging Het
Armc3 A G 2: 19,206,630 (GRCm39) probably null Het
Atp9a C A 2: 168,496,140 (GRCm39) V555F possibly damaging Het
Bltp1 A G 3: 37,075,630 (GRCm39) Y3610C probably damaging Het
Cars2 C T 8: 11,566,198 (GRCm39) V443I probably benign Het
Cblc A G 7: 19,526,821 (GRCm39) L137P probably damaging Het
Cdk5r1 T A 11: 80,369,021 (GRCm39) C229* probably null Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Cfap54 T C 10: 92,710,877 (GRCm39) Y2728C unknown Het
Ckap5 T A 2: 91,400,597 (GRCm39) W650R probably damaging Het
Cnot11 C T 1: 39,579,148 (GRCm39) Q12* probably null Het
Commd6 A T 14: 101,874,534 (GRCm39) D19E probably damaging Het
Crygc C T 1: 65,112,361 (GRCm39) G71D possibly damaging Het
Cstf3 A G 2: 104,486,076 (GRCm39) K439E probably benign Het
Cyp11b2 G T 15: 74,727,340 (GRCm39) H114N probably benign Het
Cyp2d40 T C 15: 82,645,687 (GRCm39) D106G probably benign Het
Dhx8 T A 11: 101,655,618 (GRCm39) V1117E probably damaging Het
Duoxa1 G T 2: 122,134,462 (GRCm39) L219I probably damaging Het
Dynap A T 18: 70,374,253 (GRCm39) I91N probably damaging Het
Elfn1 G T 5: 139,958,900 (GRCm39) G635W probably damaging Het
Fan1 A T 7: 64,014,377 (GRCm39) I618N probably damaging Het
Fras1 A G 5: 96,876,410 (GRCm39) D2381G probably damaging Het
Fxyd6 T A 9: 45,302,851 (GRCm39) probably null Het
Gpr137b A T 13: 13,538,094 (GRCm39) W286R probably damaging Het
Gpsm3 A T 17: 34,809,536 (GRCm39) probably null Het
Has1 C T 17: 18,064,122 (GRCm39) V506I probably benign Het
Hoxd10 T A 2: 74,522,616 (GRCm39) V98D probably benign Het
Htr2b T A 1: 86,027,615 (GRCm39) D297V probably benign Het
Hydin G C 8: 111,265,007 (GRCm39) R2730P probably benign Het
I830077J02Rik T C 3: 105,833,830 (GRCm39) N109D possibly damaging Het
Igf2r A T 17: 12,922,263 (GRCm39) F1284I probably damaging Het
Ildr2 C G 1: 166,098,144 (GRCm39) D167E probably damaging Het
Ipo9 T C 1: 135,314,046 (GRCm39) D949G probably benign Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Itpr1 A G 6: 108,365,153 (GRCm39) N27S probably damaging Het
Klra4 C A 6: 130,042,162 (GRCm39) R35L probably benign Het
Map3k2 T A 18: 32,359,682 (GRCm39) C512S probably benign Het
Mertk A G 2: 128,601,150 (GRCm39) probably null Het
Mgat2 T A 12: 69,232,407 (GRCm39) I327N probably damaging Het
Mogat1 T C 1: 78,499,496 (GRCm39) I59T probably damaging Het
Mrpl2 A T 17: 46,958,382 (GRCm39) M55L probably benign Het
Nxpe3 T C 16: 55,664,685 (GRCm39) M512V possibly damaging Het
Pcdh15 T C 10: 74,286,052 (GRCm39) L769P probably damaging Het
Pcmtd2 T G 2: 181,486,231 (GRCm39) V117G probably damaging Het
Pdia2 A T 17: 26,415,578 (GRCm39) probably null Het
Repin1 A T 6: 48,574,859 (GRCm39) Q593L possibly damaging Het
Rnf213 C T 11: 119,340,692 (GRCm39) T3517I probably benign Het
Rxfp2 A T 5: 149,942,210 (GRCm39) probably benign Het
Skint8 T C 4: 111,785,968 (GRCm39) L138P probably damaging Het
Slc35a3 T A 3: 116,506,417 (GRCm39) Q5L probably null Het
Stab2 T A 10: 86,778,054 (GRCm39) N758I probably damaging Het
Sulf1 T A 1: 12,908,658 (GRCm39) I557N probably damaging Het
Tbc1d8 T C 1: 39,428,455 (GRCm39) I497V possibly damaging Het
Ticam2 A C 18: 46,693,998 (GRCm39) S30A probably benign Het
Timp3 T C 10: 86,181,638 (GRCm39) S170P possibly damaging Het
Top1mt C T 15: 75,547,973 (GRCm39) E38K probably benign Het
Tpp1 G A 7: 105,398,171 (GRCm39) L331F probably damaging Het
Trpm7 A T 2: 126,654,941 (GRCm39) D1332E probably benign Het
Ttc23 A G 7: 67,319,476 (GRCm39) E112G possibly damaging Het
Ttn T C 2: 76,715,296 (GRCm39) probably benign Het
Ttn T A 2: 76,726,934 (GRCm39) probably benign Het
Ubr3 T A 2: 69,850,969 (GRCm39) C1796S probably damaging Het
Ugt2b34 C T 5: 87,040,675 (GRCm39) V416I probably benign Het
Uqcrb A G 13: 67,048,827 (GRCm39) probably benign Het
Vps26b A G 9: 26,921,760 (GRCm39) L255P probably benign Het
Wdr59 A G 8: 112,223,512 (GRCm39) V154A probably damaging 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
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
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'- CCTTTGCAACTGTCAAGATTCTTTG -3'
(R):5'- CTTGCATTCATGTAGGGGCC -3'

Sequencing Primer
(F):5'- CAACTGTCAAGATTCTTTGTAACTGC -3'
(R):5'- ATTCATGTAGGGGCCCTGCTC -3'
Posted On 2018-10-18