Incidental Mutation 'R1519:Ccdc168'
ID 167237
Institutional Source Beutler Lab
Gene Symbol Ccdc168
Ensembl Gene ENSMUSG00000091844
Gene Name coiled-coil domain containing 168
Synonyms Gm8251
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R1519 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 44095032-44118906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44096130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1656 (V1656A)
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: V1656A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: V1656A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C G 10: 100,439,390 (GRCm39) P187R probably damaging Het
Abhd5 T C 9: 122,208,079 (GRCm39) probably null Het
Acadvl A G 11: 69,905,617 (GRCm39) probably null Het
Actn1 T C 12: 80,251,852 (GRCm39) E75G probably damaging Het
Adam4 A T 12: 81,467,651 (GRCm39) N323K possibly damaging Het
Anks6 G A 4: 47,027,152 (GRCm39) R689W probably damaging Het
Anxa2 T C 9: 69,392,523 (GRCm39) I124T probably damaging Het
Aph1c T C 9: 66,740,547 (GRCm39) T10A probably benign Het
Arhgap40 T A 2: 158,388,721 (GRCm39) W552R probably benign Het
Baz2b C T 2: 59,778,598 (GRCm39) R754H possibly damaging Het
Blmh A G 11: 76,857,607 (GRCm39) Y147C probably damaging Het
C1galt1 C T 6: 7,866,402 (GRCm39) L83F probably damaging Het
Cdh23 A T 10: 60,215,122 (GRCm39) Y1403N possibly damaging Het
Cic A T 7: 24,993,235 (GRCm39) probably null Het
Coro1b T A 19: 4,200,583 (GRCm39) V200D possibly damaging Het
Csl T A 10: 99,593,817 (GRCm39) E416V probably damaging Het
Cyp3a25 A G 5: 145,938,257 (GRCm39) probably null Het
Dennd2d T A 3: 106,399,875 (GRCm39) F266Y probably damaging Het
Dnah10 A G 5: 124,838,016 (GRCm39) E1072G probably damaging Het
Dnah6 T A 6: 73,026,031 (GRCm39) K3435N probably damaging Het
Dnah9 G A 11: 65,772,587 (GRCm39) A3715V probably damaging Het
Fam186a G A 15: 99,845,536 (GRCm39) S236L unknown Het
Frs3 A G 17: 48,013,903 (GRCm39) T199A probably benign Het
Fsd1 A G 17: 56,300,870 (GRCm39) N243S probably benign Het
Gabra5 A C 7: 57,058,641 (GRCm39) L369R probably benign Het
Gask1b A G 3: 79,848,771 (GRCm39) N506D possibly damaging Het
Gins4 A G 8: 23,724,792 (GRCm39) V54A probably benign Het
Gli1 T C 10: 127,170,138 (GRCm39) E339G possibly damaging Het
Gm12185 A G 11: 48,798,594 (GRCm39) V633A probably damaging Het
Gpr83 T A 9: 14,779,493 (GRCm39) C182S probably null Het
Gspt1 A G 16: 11,038,719 (GRCm39) V627A probably damaging Het
Heatr1 T C 13: 12,427,040 (GRCm39) C722R probably benign Het
Jak1 C T 4: 101,020,119 (GRCm39) R680Q probably damaging Het
Kif2c A G 4: 117,027,137 (GRCm39) V287A probably damaging Het
Kmo C T 1: 175,479,184 (GRCm39) P240L possibly damaging Het
Kmo A G 1: 175,484,368 (GRCm39) E366G probably damaging Het
Lepr A T 4: 101,646,541 (GRCm39) N824I probably damaging Het
Lyrm7 T A 11: 54,739,425 (GRCm39) H75L possibly damaging Het
Map4k1 A T 7: 28,690,461 (GRCm39) Q351L probably benign Het
Matcap2 T G 9: 22,341,671 (GRCm39) L114R probably benign Het
Mgam T C 6: 40,638,617 (GRCm39) I450T probably benign Het
Nbeal2 A G 9: 110,465,373 (GRCm39) L955P probably damaging Het
Nlrp9c T C 7: 26,077,526 (GRCm39) K752R possibly damaging Het
Nsmaf A T 4: 6,438,062 (GRCm39) I70K probably benign Het
Or14a257 A G 7: 86,138,333 (GRCm39) M142T probably damaging Het
Or5ac19 C T 16: 59,089,307 (GRCm39) C241Y probably damaging Het
Otud7a A G 7: 63,408,391 (GRCm39) Y898C probably damaging Het
Pcdhb18 A C 18: 37,623,945 (GRCm39) D425A probably damaging Het
Prdm1 A T 10: 44,315,982 (GRCm39) L733* probably null Het
Prdm2 A T 4: 142,862,153 (GRCm39) I379N probably damaging Het
Ptprg A T 14: 12,220,596 (GRCm38) Y436F probably damaging Het
Riok3 A G 18: 12,270,363 (GRCm39) D167G probably damaging Het
Rnf215 G T 11: 4,085,451 (GRCm39) R60L probably damaging Het
Scart1 G A 7: 139,808,069 (GRCm39) V747I probably benign Het
Sdk1 A T 5: 141,985,705 (GRCm39) H779L probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sh3d21 T A 4: 126,045,519 (GRCm39) K387* probably null Het
Slc13a2 T C 11: 78,288,572 (GRCm39) Y568C possibly damaging Het
Slc27a5 T C 7: 12,722,386 (GRCm39) probably null Het
Slc32a1 T C 2: 158,456,497 (GRCm39) L384P probably damaging Het
Sorcs1 T C 19: 50,241,025 (GRCm39) N454D probably benign Het
Spag8 T C 4: 43,652,777 (GRCm39) Y228C possibly damaging Het
Spata31e4 G A 13: 50,854,443 (GRCm39) probably null Het
Spc25 T C 2: 69,030,431 (GRCm39) I71V probably damaging Het
Tcte1 T A 17: 45,846,178 (GRCm39) F261I probably damaging Het
Thsd7a T A 6: 12,471,174 (GRCm39) K481N probably benign Het
Tll2 G T 19: 41,074,839 (GRCm39) N908K probably benign Het
Tmem236 T C 2: 14,197,091 (GRCm39) V93A probably benign Het
Top2b G A 14: 16,408,953 (GRCm38) probably null Het
Topaz1 G A 9: 122,596,076 (GRCm39) S949N probably benign Het
Triobp A G 15: 78,857,938 (GRCm39) T1180A probably benign Het
Trip11 A C 12: 101,852,419 (GRCm39) D548E probably benign Het
Trpv2 T A 11: 62,480,652 (GRCm39) probably null Het
Ulbp3 A G 10: 3,075,230 (GRCm39) noncoding transcript Het
Vmn1r12 T A 6: 57,136,540 (GRCm39) H212Q probably damaging Het
Vmn2r112 A G 17: 22,837,884 (GRCm39) T782A possibly damaging Het
Vmn2r7 A G 3: 64,623,876 (GRCm39) V239A possibly damaging Het
Vmn2r80 T A 10: 79,030,053 (GRCm39) N626K probably damaging Het
Vmn2r99 A G 17: 19,600,322 (GRCm39) S449G probably benign Het
Wfikkn2 T C 11: 94,128,933 (GRCm39) T403A probably benign Het
Xirp2 A G 2: 67,346,023 (GRCm39) I2755V probably benign Het
Yjefn3 A G 8: 70,341,729 (GRCm39) V153A probably benign Het
Zfp677 C A 17: 21,617,499 (GRCm39) H185Q possibly damaging Het
Zfp947 C T 17: 22,365,273 (GRCm39) V134I probably benign 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
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
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'- CTGATAGAAAGGTTGTGCCACAGGG -3'
(R):5'- CTTCCAGGATAAGCAAGGGTTCAGG -3'

Sequencing Primer
(F):5'- CCACAGGGAAGATATGCTGTCTATG -3'
(R):5'- GGGTTCAGGTTCAGTATGTAAAAC -3'
Posted On 2014-04-13