Incidental Mutation 'R6882:Ccdc166'
ID 543679
Institutional Source Beutler Lab
Gene Symbol Ccdc166
Ensembl Gene ENSMUSG00000098176
Gene Name coiled-coil domain containing 166
Synonyms 2410075B13Rik
MMRRC Submission 044977-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6882 (G1)
Quality Score 78.0075
Status Validated
Chromosome 15
Chromosomal Location 75851721-75854134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75853466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 167 (H167R)
Ref Sequence ENSEMBL: ENSMUSP00000138115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182172] [ENSMUST00000183130]
AlphaFold S4R181
Predicted Effect possibly damaging
Transcript: ENSMUST00000182172
AA Change: T205A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138510
Gene: ENSMUSG00000098176
AA Change: T205A

DomainStartEndE-ValueType
Pfam:DUF4515 67 146 9.4e-6 PFAM
low complexity region 180 189 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000183130
AA Change: H167R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138115
Gene: ENSMUSG00000098176
AA Change: H167R

DomainStartEndE-ValueType
Pfam:DUF4515 67 260 2.3e-25 PFAM
low complexity region 265 288 N/A INTRINSIC
low complexity region 433 444 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr10 A G 12: 71,003,125 (GRCm39) E238G probably benign Het
Adgrf5 T A 17: 43,761,271 (GRCm39) C989S probably damaging Het
Ank2 T G 3: 126,739,406 (GRCm39) probably benign Het
C2cd6 T C 1: 59,105,318 (GRCm39) D320G probably damaging Het
Cacnb2 T A 2: 14,829,110 (GRCm39) I15N probably benign Het
Cage1 T A 13: 38,206,534 (GRCm39) Q437L probably damaging Het
Capn15 G T 17: 26,179,153 (GRCm39) probably null Het
Cbll1 A G 12: 31,537,484 (GRCm39) Y424H probably damaging Het
Ccdc7a T C 8: 129,523,809 (GRCm39) probably benign Het
Cdkl4 T A 17: 80,851,175 (GRCm39) T176S probably damaging Het
Cnot1 T C 8: 96,447,054 (GRCm39) E2321G possibly damaging Het
Col6a5 G A 9: 105,817,469 (GRCm39) Q281* probably null Het
Csmd2 A G 4: 128,343,062 (GRCm39) T1485A probably benign Het
Dmxl1 A G 18: 49,976,851 (GRCm39) probably null Het
Dnah3 A G 7: 119,570,407 (GRCm39) I2271T possibly damaging Het
Elavl2 A G 4: 91,196,952 (GRCm39) I42T probably damaging Het
Epn3 C T 11: 94,382,186 (GRCm39) A568T probably benign Het
Etv3 T C 3: 87,436,577 (GRCm39) F111L probably damaging Het
Fnip1 A G 11: 54,400,724 (GRCm39) E1041G probably damaging Het
Fosl2 T C 5: 32,310,208 (GRCm39) V219A possibly damaging Het
Foxj2 T A 6: 122,805,464 (GRCm39) probably null Het
Gm8947 G A 1: 151,068,880 (GRCm39) A238T possibly damaging Het
Golgb1 C A 16: 36,734,352 (GRCm39) Q1200K probably benign Het
Igkv4-55 A G 6: 69,584,289 (GRCm39) Y108H probably damaging Het
Iglc1 G A 16: 18,880,599 (GRCm39) probably benign Het
Ints13 G T 6: 146,464,939 (GRCm39) R221S probably null Het
Ipo11 T C 13: 107,037,190 (GRCm39) probably null Het
Kcnn2 A T 18: 45,692,505 (GRCm39) H27L possibly damaging Het
Kcns3 C T 12: 11,142,049 (GRCm39) V217M probably benign Het
Klra9 A T 6: 130,155,985 (GRCm39) C257S probably damaging Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Lmbr1l A G 15: 98,805,467 (GRCm39) F345L probably damaging Het
Lrrc18 A C 14: 32,730,646 (GRCm39) I62L probably benign Het
Mr1 A G 1: 155,008,199 (GRCm39) W259R possibly damaging Het
Myo15a G A 11: 60,414,832 (GRCm39) R3325H probably damaging Het
Nid2 A G 14: 19,839,775 (GRCm39) D788G probably damaging Het
Or2y1c A T 11: 49,361,290 (GRCm39) Y104F probably benign Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Or5h24 A T 16: 58,918,990 (GRCm39) C122S unknown Het
Or6d12 T C 6: 116,493,395 (GRCm39) V219A probably benign Het
Pbld1 T C 10: 62,897,241 (GRCm39) L11P probably benign Het
Pcnt T C 10: 76,263,662 (GRCm39) E434G probably benign Het
Prg4 G A 1: 150,329,246 (GRCm39) T174M probably damaging Het
Prkdc G A 16: 15,601,127 (GRCm39) probably null Het
Prkdc T A 16: 15,626,020 (GRCm39) S3349T probably benign Het
Prpf38a C A 4: 108,427,365 (GRCm39) E199D probably benign Het
Prrc2c TTGCTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGCTGCTGC 1: 162,536,630 (GRCm39) probably benign Het
Rhbg T A 3: 88,152,527 (GRCm39) H339L probably damaging Het
Rnf183 A G 4: 62,346,261 (GRCm39) I179T probably benign Het
Sh3bp5l G T 11: 58,222,525 (GRCm39) A7S probably benign Het
Slc12a3 T A 8: 95,092,546 (GRCm39) I989N possibly damaging Het
Sycp3 C T 10: 88,308,791 (GRCm39) R246* probably null Het
Tmprss11b T A 5: 86,819,530 (GRCm39) probably null Het
Tmx4 T C 2: 134,485,922 (GRCm39) T2A possibly damaging Het
Tnfsf10 T C 3: 27,380,182 (GRCm39) L82S possibly damaging Het
Tnni3k T A 3: 154,663,357 (GRCm39) I332F possibly damaging Het
Ttn T A 2: 76,644,539 (GRCm39) T13072S probably benign Het
Vmn2r1 A T 3: 63,997,529 (GRCm39) Y395F possibly damaging Het
Zbbx A G 3: 74,979,019 (GRCm39) V476A probably benign Het
Zfp341 T C 2: 154,479,943 (GRCm39) C465R probably damaging Het
Zfp398 A G 6: 47,843,016 (GRCm39) D224G probably damaging Het
Zfp407 G T 18: 84,361,194 (GRCm39) probably null Het
Zfp52 T C 17: 21,775,309 (GRCm39) M1T probably null Het
Other mutations in Ccdc166
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03048:Ccdc166 UTSW 15 75,854,050 (GRCm39) missense possibly damaging 0.96
R5361:Ccdc166 UTSW 15 75,852,869 (GRCm39) missense probably benign 0.00
R5381:Ccdc166 UTSW 15 75,852,701 (GRCm39) nonsense probably null
R5426:Ccdc166 UTSW 15 75,853,945 (GRCm39) missense possibly damaging 0.72
R6859:Ccdc166 UTSW 15 75,853,820 (GRCm39) missense possibly damaging 0.84
R7162:Ccdc166 UTSW 15 75,853,044 (GRCm39) missense probably benign
R7680:Ccdc166 UTSW 15 75,853,056 (GRCm39) missense possibly damaging 0.93
R7818:Ccdc166 UTSW 15 75,852,864 (GRCm39) missense possibly damaging 0.93
R8296:Ccdc166 UTSW 15 75,852,860 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GAGTTCTTGTCGGAGATACCC -3'
(R):5'- AGCTAGCGTCCTTCTACCAC -3'

Sequencing Primer
(F):5'- AGATACCCGTTGTCCGCC -3'
(R):5'- CGCTCAGCTGCAGGAAATG -3'
Posted On 2019-05-08