Incidental Mutation 'R2185:Ccdc168'
ID 237796
Institutional Source Beutler Lab
Gene Symbol Ccdc168
Ensembl Gene ENSMUSG00000091844
Gene Name coiled-coil domain containing 168
Synonyms Gm8251
MMRRC Submission 040187-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R2185 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 44095032-44118906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44100541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 186 (H186Y)
Ref Sequence ENSEMBL: ENSMUSP00000127017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168641]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000168641
AA Change: H186Y

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: H186Y

DomainStartEndE-ValueType
Pfam:CCDC168_N 2 202 2.5e-83 PFAM
Pfam:CCDC168_N 200 302 1.7e-26 PFAM
Pfam:CCDC168_N 347 397 2.1e-4 PFAM
Pfam:CCDC168_N 437 581 8.5e-8 PFAM
Pfam:CCDC168_N 663 802 6.3e-5 PFAM
Pfam:CCDC168_N 788 955 1e-9 PFAM
low complexity region 1803 1819 N/A INTRINSIC
low complexity region 1830 1847 N/A INTRINSIC
low complexity region 1968 1984 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,829 (GRCm39) D119G probably damaging Het
Abca1 A G 4: 53,089,830 (GRCm39) M427T probably benign Het
Ankra2 T C 13: 98,402,912 (GRCm39) F53S probably damaging Het
Ano3 T C 2: 110,605,390 (GRCm39) E272G probably benign Het
Aqr C T 2: 113,961,015 (GRCm39) probably null Het
Cibar1 A T 4: 12,169,041 (GRCm39) probably benign Het
Clca4b T C 3: 144,634,317 (GRCm39) Y92C probably damaging Het
Crebbp A T 16: 3,902,002 (GRCm39) N2374K probably damaging Het
Cspg4 A T 9: 56,794,256 (GRCm39) I664L probably benign Het
Ctnnd1 A T 2: 84,442,892 (GRCm39) D626E probably damaging Het
Dnai3 A G 3: 145,772,619 (GRCm39) S476P possibly damaging Het
Eml2 A G 7: 18,927,953 (GRCm39) Y254C probably damaging Het
Gabrr3 T C 16: 59,255,031 (GRCm39) S239P probably damaging Het
Gen1 T C 12: 11,311,041 (GRCm39) T64A probably null Het
Gm14399 C A 2: 174,973,188 (GRCm39) C189F probably damaging Het
Gm9476 T G 10: 100,143,040 (GRCm39) noncoding transcript Het
Kcnh5 A T 12: 75,177,705 (GRCm39) F134I possibly damaging Het
Kdm4b G C 17: 56,700,750 (GRCm39) A474P probably benign Het
Kif2b TTCTCTCTCT TTCTCTCT 11: 91,467,797 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc28 C T 7: 67,195,201 (GRCm39) R203Q possibly damaging Het
Lrrc8e G T 8: 4,284,986 (GRCm39) E404* probably null Het
Macf1 A T 4: 123,369,349 (GRCm39) M239K probably damaging Het
Mamdc4 A G 2: 25,459,704 (GRCm39) probably null Het
Matr3 A G 18: 35,714,278 (GRCm39) Y75C probably damaging Het
Myo19 T C 11: 84,783,047 (GRCm39) V187A probably benign Het
Ncbp2 A G 16: 31,775,195 (GRCm39) D116G probably damaging Het
Or1d2 A T 11: 74,255,572 (GRCm39) I26F probably benign Het
Or4p8 A C 2: 88,727,047 (GRCm39) V298G probably damaging Het
Or56a3 T A 7: 104,735,509 (GRCm39) D195E possibly damaging Het
Or9g3 T C 2: 85,590,363 (GRCm39) Y119C probably damaging Het
Pkd1l3 T A 8: 110,359,827 (GRCm39) M894K possibly damaging Het
Prpf8 C T 11: 75,377,939 (GRCm39) R8* probably null Het
Prss12 T A 3: 123,280,793 (GRCm39) S493T probably benign Het
Ptov1 T G 7: 44,516,707 (GRCm39) probably benign Het
Rfpl4 A T 7: 5,118,499 (GRCm39) L24M probably damaging Het
Rundc1 C A 11: 101,316,157 (GRCm39) D76E probably benign Het
Slc5a11 G T 7: 122,872,421 (GRCm39) A673S probably damaging Het
Smg5 T C 3: 88,258,868 (GRCm39) M613T probably benign Het
Swt1 T A 1: 151,260,219 (GRCm39) H677L probably damaging Het
Tas2r107 T C 6: 131,636,566 (GRCm39) N161S probably damaging Het
Trp73 A T 4: 154,189,274 (GRCm39) probably null Het
Tsr1 A G 11: 74,792,906 (GRCm39) I405V probably damaging Het
Ttll4 A G 1: 74,718,988 (GRCm39) T280A possibly damaging Het
Ube2q2 A G 9: 55,102,366 (GRCm39) probably null Het
Usp5 T C 6: 124,794,373 (GRCm39) E769G probably damaging Het
Vmn2r68 T A 7: 84,882,901 (GRCm39) K284* probably null Het
Zfp963 C A 8: 70,195,561 (GRCm39) K297N probably benign Het
Zfp975 C A 7: 42,311,105 (GRCm39) A503S possibly damaging Het
Other mutations in Ccdc168
AlleleSourceChrCoordTypePredicted EffectPPH Score
D3080:Ccdc168 UTSW 1 44,106,495 (GRCm39)
R0045:Ccdc168 UTSW 1 44,096,365 (GRCm39) missense probably benign
R0110:Ccdc168 UTSW 1 44,098,384 (GRCm39) missense probably benign
R0450:Ccdc168 UTSW 1 44,100,257 (GRCm39) missense possibly damaging 0.85
R0469:Ccdc168 UTSW 1 44,100,257 (GRCm39) missense possibly damaging 0.85
R0510:Ccdc168 UTSW 1 44,100,257 (GRCm39) missense possibly damaging 0.85
R0602:Ccdc168 UTSW 1 44,099,127 (GRCm39) missense possibly damaging 0.96
R0648:Ccdc168 UTSW 1 44,095,723 (GRCm39) missense possibly damaging 0.73
R0928:Ccdc168 UTSW 1 44,096,388 (GRCm39) missense possibly damaging 0.73
R1056:Ccdc168 UTSW 1 44,100,087 (GRCm39) missense probably damaging 1.00
R1217:Ccdc168 UTSW 1 44,096,339 (GRCm39) missense possibly damaging 0.73
R1232:Ccdc168 UTSW 1 44,095,752 (GRCm39) missense possibly damaging 0.96
R1399:Ccdc168 UTSW 1 44,100,471 (GRCm39) missense possibly damaging 0.93
R1489:Ccdc168 UTSW 1 44,100,667 (GRCm39) missense probably benign 0.06
R1489:Ccdc168 UTSW 1 44,096,950 (GRCm39) missense probably benign 0.18
R1519:Ccdc168 UTSW 1 44,096,130 (GRCm39) missense probably benign 0.33
R1664:Ccdc168 UTSW 1 44,098,387 (GRCm39) missense possibly damaging 0.71
R1828:Ccdc168 UTSW 1 44,096,234 (GRCm39) missense possibly damaging 0.72
R1944:Ccdc168 UTSW 1 44,101,009 (GRCm39) missense probably damaging 0.97
R2032:Ccdc168 UTSW 1 44,100,900 (GRCm39) missense possibly damaging 0.86
R2094:Ccdc168 UTSW 1 44,098,890 (GRCm39) missense probably benign 0.06
R2170:Ccdc168 UTSW 1 44,095,168 (GRCm39) missense probably benign 0.18
R2280:Ccdc168 UTSW 1 44,095,620 (GRCm39) missense possibly damaging 0.53
R2281:Ccdc168 UTSW 1 44,095,620 (GRCm39) missense possibly damaging 0.53
R2339:Ccdc168 UTSW 1 44,100,023 (GRCm39) missense probably benign
R3617:Ccdc168 UTSW 1 44,100,114 (GRCm39) missense probably benign
R3738:Ccdc168 UTSW 1 44,098,026 (GRCm39) missense probably benign 0.33
R4012:Ccdc168 UTSW 1 44,100,129 (GRCm39) missense possibly damaging 0.85
R4034:Ccdc168 UTSW 1 44,098,026 (GRCm39) missense probably benign 0.33
R4344:Ccdc168 UTSW 1 44,100,151 (GRCm39) missense possibly damaging 0.86
R4436:Ccdc168 UTSW 1 44,095,276 (GRCm39) missense probably benign 0.03
R4485:Ccdc168 UTSW 1 44,099,283 (GRCm39) missense probably benign
R4735:Ccdc168 UTSW 1 44,100,861 (GRCm39) missense probably benign
R4782:Ccdc168 UTSW 1 44,098,203 (GRCm39) missense possibly damaging 0.85
R4837:Ccdc168 UTSW 1 44,100,594 (GRCm39) missense possibly damaging 0.93
R4862:Ccdc168 UTSW 1 44,097,178 (GRCm39) missense possibly damaging 0.93
R5247:Ccdc168 UTSW 1 44,096,166 (GRCm39) nonsense probably null
R5347:Ccdc168 UTSW 1 44,096,955 (GRCm39) missense probably benign 0.01
R5355:Ccdc168 UTSW 1 44,097,139 (GRCm39) missense possibly damaging 0.53
R5559:Ccdc168 UTSW 1 44,097,675 (GRCm39) missense possibly damaging 0.77
R5640:Ccdc168 UTSW 1 44,101,087 (GRCm39) missense probably benign 0.00
R5681:Ccdc168 UTSW 1 44,100,624 (GRCm39) missense possibly damaging 0.93
R5776:Ccdc168 UTSW 1 44,095,665 (GRCm39) missense possibly damaging 0.72
R5919:Ccdc168 UTSW 1 44,096,146 (GRCm39) missense probably benign
R5987:Ccdc168 UTSW 1 44,096,417 (GRCm39) missense probably benign
R6616:Ccdc168 UTSW 1 44,100,634 (GRCm39) missense possibly damaging 0.51
R6677:Ccdc168 UTSW 1 44,097,859 (GRCm39) missense probably benign 0.00
R6830:Ccdc168 UTSW 1 44,095,890 (GRCm39) missense probably benign 0.33
R6906:Ccdc168 UTSW 1 44,095,173 (GRCm39) missense probably benign 0.33
R6909:Ccdc168 UTSW 1 44,098,935 (GRCm39) missense possibly damaging 0.71
R6957:Ccdc168 UTSW 1 44,096,367 (GRCm39) missense probably benign 0.00
R7008:Ccdc168 UTSW 1 44,098,785 (GRCm39) missense probably benign
R7052:Ccdc168 UTSW 1 44,096,466 (GRCm39) missense possibly damaging 0.53
R7176:Ccdc168 UTSW 1 44,099,506 (GRCm39) missense probably benign 0.00
R7190:Ccdc168 UTSW 1 44,100,775 (GRCm39) missense probably benign 0.32
R7296:Ccdc168 UTSW 1 44,100,076 (GRCm39) nonsense probably null
R7347:Ccdc168 UTSW 1 44,098,656 (GRCm39) missense probably damaging 0.99
R7371:Ccdc168 UTSW 1 44,100,537 (GRCm39) missense probably benign
R7375:Ccdc168 UTSW 1 44,099,694 (GRCm39) missense possibly damaging 0.53
R7442:Ccdc168 UTSW 1 44,097,868 (GRCm39) missense possibly damaging 0.84
R7450:Ccdc168 UTSW 1 44,097,933 (GRCm39) missense probably benign 0.33
R7574:Ccdc168 UTSW 1 44,098,593 (GRCm39) missense possibly damaging 0.93
R7586:Ccdc168 UTSW 1 44,099,173 (GRCm39) missense probably benign 0.20
R7739:Ccdc168 UTSW 1 44,095,578 (GRCm39) missense possibly damaging 0.86
R7878:Ccdc168 UTSW 1 44,095,174 (GRCm39) missense probably benign 0.18
R7959:Ccdc168 UTSW 1 44,096,728 (GRCm39) missense probably benign
R7991:Ccdc168 UTSW 1 44,098,869 (GRCm39) missense probably benign 0.00
R8035:Ccdc168 UTSW 1 44,100,711 (GRCm39) missense possibly damaging 0.51
R8281:Ccdc168 UTSW 1 44,095,698 (GRCm39) missense possibly damaging 0.93
R8523:Ccdc168 UTSW 1 44,099,994 (GRCm39) missense possibly damaging 0.86
R8804:Ccdc168 UTSW 1 44,095,809 (GRCm39) missense probably benign
R8869:Ccdc168 UTSW 1 44,097,425 (GRCm39) missense possibly damaging 0.68
R8891:Ccdc168 UTSW 1 44,096,284 (GRCm39) missense probably benign 0.00
R9010:Ccdc168 UTSW 1 44,100,633 (GRCm39) missense possibly damaging 0.51
R9082:Ccdc168 UTSW 1 44,099,874 (GRCm39) missense unknown
R9097:Ccdc168 UTSW 1 44,098,049 (GRCm39) missense possibly damaging 0.73
R9157:Ccdc168 UTSW 1 44,096,520 (GRCm39) missense probably benign 0.33
R9262:Ccdc168 UTSW 1 44,096,269 (GRCm39) missense possibly damaging 0.73
R9313:Ccdc168 UTSW 1 44,096,520 (GRCm39) missense probably benign 0.33
R9419:Ccdc168 UTSW 1 44,096,935 (GRCm39) missense probably benign 0.03
R9433:Ccdc168 UTSW 1 44,095,668 (GRCm39) missense possibly damaging 0.86
R9485:Ccdc168 UTSW 1 44,095,399 (GRCm39) missense possibly damaging 0.72
R9511:Ccdc168 UTSW 1 44,098,854 (GRCm39) missense probably benign 0.00
R9573:Ccdc168 UTSW 1 44,095,307 (GRCm39) nonsense probably null
R9748:Ccdc168 UTSW 1 44,095,824 (GRCm39) missense possibly damaging 0.91
YA93:Ccdc168 UTSW 1 44,104,245 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TACTGTGCTCGCTGAGACTG -3'
(R):5'- GAAGTACAAACCTCAGCCATTG -3'

Sequencing Primer
(F):5'- GCTCGCTGAGACTGAACACATG -3'
(R):5'- GAGAATTTGACTTACCTCAGAGGCC -3'
Posted On 2014-10-02