Incidental Mutation 'R4034:Ccdc168'
ID 313611
Institutional Source Beutler Lab
Gene Symbol Ccdc168
Ensembl Gene ENSMUSG00000091844
Gene Name coiled-coil domain containing 168
Synonyms Gm8251
MMRRC Submission 040962-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R4034 (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 44098026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1024 (V1024A)
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: V1024A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: V1024A

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: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 A T 11: 48,910,108 (GRCm39) L775* probably null Het
Aarsd1 C T 11: 101,302,158 (GRCm39) V301I probably damaging Het
Arap1 A T 7: 101,049,484 (GRCm39) Y982F possibly damaging Het
Aspa T C 11: 73,199,597 (GRCm39) K227E possibly damaging Het
Ccdc88c G A 12: 100,896,783 (GRCm39) A1389V possibly damaging Het
Cngb1 C A 8: 95,991,078 (GRCm39) C708F possibly damaging Het
Csn1s2a A G 5: 87,929,746 (GRCm39) Q115R probably benign Het
Cwf19l2 A T 9: 3,456,803 (GRCm39) H712L probably benign Het
Eml6 C A 11: 29,753,137 (GRCm39) V925L probably benign Het
Fbll1 G A 11: 35,688,505 (GRCm39) H253Y possibly damaging Het
Hmgcr C G 13: 96,787,571 (GRCm39) L852F probably damaging Het
Ltbp2 A T 12: 84,851,248 (GRCm39) C836S probably damaging Het
Mroh9 A G 1: 162,908,122 (GRCm39) probably null Het
Muc5ac G A 7: 141,353,581 (GRCm39) probably null Het
Or2y1 A G 11: 49,386,287 (GRCm39) D309G possibly damaging Het
Pgm5 T A 19: 24,839,021 (GRCm39) I45F probably damaging Het
Ppl T C 16: 4,924,721 (GRCm39) T115A probably benign Het
Sgpp1 A G 12: 75,762,964 (GRCm39) Y406H probably damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
St18 G A 1: 6,925,697 (GRCm39) probably null Het
Tcerg1 T A 18: 42,652,598 (GRCm39) N75K unknown Het
Tmco4 T C 4: 138,748,172 (GRCm39) Y251H probably damaging Het
Usp42 C T 5: 143,701,194 (GRCm39) S943N probably benign Het
Utp20 C T 10: 88,598,668 (GRCm39) V103I probably benign Het
Vmn1r14 G A 6: 57,211,310 (GRCm39) R252H possibly damaging Het
Wapl T C 14: 34,459,871 (GRCm39) V1013A possibly damaging Het
Zfp37 G A 4: 62,109,933 (GRCm39) T414I probably damaging Het
Zfp423 A G 8: 88,507,972 (GRCm39) C666R probably 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
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
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'- AGTAACAGTCAATGGTGGACC -3'
(R):5'- TCCTTCAAATGGCAAAAGGGTC -3'

Sequencing Primer
(F):5'- CAGTCAATGGTGGACCTAATTTCC -3'
(R):5'- CTTCAAATGGCAAAAGGGTCAGCTAG -3'
Posted On 2015-04-30