Incidental Mutation 'R4344:Ccdc168'
ID 324246
Institutional Source Beutler Lab
Gene Symbol Ccdc168
Ensembl Gene ENSMUSG00000091844
Gene Name coiled-coil domain containing 168
Synonyms Gm8251
MMRRC Submission 041101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4344 (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 44100151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 316 (L316F)
Ref Sequence ENSEMBL: ENSMUSP00000127017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168641]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000168641
AA Change: L316F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: L316F

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 G T 1: 25,865,829 (GRCm39) R5S possibly damaging Het
Ccdc187 T A 2: 26,170,681 (GRCm39) K599I probably damaging Het
Ccn5 G A 2: 163,670,906 (GRCm39) V138M probably damaging Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Ces2a T G 8: 105,463,766 (GRCm39) D159E probably damaging Het
Dcc G A 18: 71,507,561 (GRCm39) A917V probably damaging Het
Dennd6b G A 15: 89,072,866 (GRCm39) A196V probably benign Het
Dlgap3 T C 4: 127,108,141 (GRCm39) S475P possibly damaging Het
Doc2a C T 7: 126,450,321 (GRCm39) P156S probably damaging Het
Elmo1 T A 13: 20,445,722 (GRCm39) probably null Het
Fbf1 A G 11: 116,038,568 (GRCm39) V851A probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Klk1b8 C A 7: 43,595,186 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,264,968 (GRCm39) probably benign Het
Lyst T A 13: 13,873,051 (GRCm39) I2750K probably benign Het
Muc4 A G 16: 32,590,666 (GRCm39) N2958S possibly damaging Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ppp1r16b G A 2: 158,591,106 (GRCm39) V163I probably damaging Het
Prkdc T A 16: 15,585,886 (GRCm39) W2475R probably damaging Het
Rad54l C T 4: 115,954,551 (GRCm39) C684Y probably damaging Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rasef T A 4: 73,663,326 (GRCm39) H167L probably damaging Het
Sh3bp2 T C 5: 34,712,886 (GRCm39) F165L possibly damaging Het
Slc38a9 T C 13: 112,865,749 (GRCm39) I482T probably benign Het
Tmprss6 T A 15: 78,343,627 (GRCm39) probably null Het
Trpm3 A T 19: 22,875,061 (GRCm39) S568C probably damaging Het
Ttc39c T A 18: 12,861,667 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn2r22 C T 6: 123,614,756 (GRCm39) G278D probably damaging Het
Yme1l1 G A 2: 23,063,073 (GRCm39) A215T probably benign Het
Zmynd15 C T 11: 70,351,894 (GRCm39) R38* probably null 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
R2185:Ccdc168 UTSW 1 44,100,541 (GRCm39) missense probably benign 0.01
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
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'- TGCAACTCTTTCATAGTGAGTGTAC -3'
(R):5'- TGTTCAGTCTCAGCGAGCAC -3'

Sequencing Primer
(F):5'- TCTTTCATAGTGAGTGTACATGATTG -3'
(R):5'- TTCAGTCTCAGCGAGCACAGTAC -3'
Posted On 2015-06-24