Incidental Mutation 'R9748:Ccdc168'
ID 732280
Institutional Source Beutler Lab
Gene Symbol Ccdc168
Ensembl Gene ENSMUSG00000091844
Gene Name coiled-coil domain containing 168
Synonyms Gm8251
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9748 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 44095032-44118906 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44095824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 1758 (S1758Y)
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: S1758Y

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127017
Gene: ENSMUSG00000091844
AA Change: S1758Y

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,301,068 (GRCm39) T221A probably benign Het
Adamts12 G A 15: 11,310,628 (GRCm39) V962I probably damaging Het
Ano3 T A 2: 110,488,640 (GRCm39) I931F probably damaging Het
Anxa2r2 T A 13: 120,488,200 (GRCm39) E116D possibly damaging Het
Arih1 T G 9: 59,300,581 (GRCm39) D555A possibly damaging Het
Arsg A G 11: 109,381,452 (GRCm39) D65G probably damaging Het
Atp8b3 G A 10: 80,364,407 (GRCm39) T567I probably damaging Het
Camkk2 G C 5: 122,872,182 (GRCm39) R575G probably benign Het
Ccdc88b G T 19: 6,831,461 (GRCm39) L494M probably damaging Het
Cdc7 A G 5: 107,123,405 (GRCm39) K317E possibly damaging Het
Cfh A G 1: 140,090,687 (GRCm39) probably null Het
Cp T G 3: 20,043,335 (GRCm39) V1041G possibly damaging Het
Cpeb3 A G 19: 37,151,926 (GRCm39) V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 (GRCm39) E352V probably damaging Het
Dnah9 T A 11: 65,976,290 (GRCm39) H1253L possibly damaging Het
Dsg3 T C 18: 20,672,761 (GRCm39) S811P possibly damaging Het
Efcab5 A T 11: 77,007,022 (GRCm39) Y867* probably null Het
Eif2ak1 A G 5: 143,819,031 (GRCm39) T231A probably damaging Het
Eif2ak4 T A 2: 118,247,730 (GRCm39) C256S probably benign Het
Eif5b A G 1: 38,090,241 (GRCm39) N1140S possibly damaging Het
Etnppl A T 3: 130,414,002 (GRCm39) M34L probably benign Het
Fcrl5 T G 3: 87,364,469 (GRCm39) C549W possibly damaging Het
Fhod1 G A 8: 106,058,323 (GRCm39) A811V probably damaging Het
Flcn C T 11: 59,692,980 (GRCm39) S198N probably benign Het
Fndc1 T A 17: 7,991,929 (GRCm39) H589L unknown Het
Gm8108 G T 14: 4,110,527 (GRCm38) probably benign Het
Hcn4 C T 9: 58,730,996 (GRCm39) R68W unknown Het
Igfn1 A G 1: 135,926,336 (GRCm39) L38P possibly damaging Het
Il1r1 A G 1: 40,349,496 (GRCm39) T351A probably benign Het
Ildr2 T C 1: 166,096,889 (GRCm39) L36P probably damaging Het
Itgb1bp1 C T 12: 21,324,876 (GRCm39) C60Y probably damaging Het
Jrk A G 15: 74,579,225 (GRCm39) L20P probably damaging Het
Kif5c C T 2: 49,584,859 (GRCm39) A194V probably damaging Het
Lrp4 C T 2: 91,316,116 (GRCm39) L745F probably damaging Het
Ly9 A T 1: 171,428,722 (GRCm39) D299E possibly damaging Het
Mfsd1 C T 3: 67,499,910 (GRCm39) T185I possibly damaging Het
Mprip A G 11: 59,656,348 (GRCm39) Y808C probably damaging Het
Mrps2 C A 2: 28,359,594 (GRCm39) H150Q possibly damaging Het
Mtcl3 A T 10: 29,024,398 (GRCm39) D438V probably damaging Het
Mturn A T 6: 54,665,989 (GRCm39) probably null Het
Myo5a T C 9: 75,091,965 (GRCm39) S1205P probably damaging Het
Nckap5 G A 1: 125,953,939 (GRCm39) P871L probably damaging Het
Ndst3 T A 3: 123,421,631 (GRCm39) I401F probably benign Het
Nek4 G A 14: 30,709,114 (GRCm39) V723M possibly damaging Het
Nfe2l2 A G 2: 75,506,667 (GRCm39) S478P probably damaging Het
Nol6 T C 4: 41,123,538 (GRCm39) Y70C probably damaging Het
Nup88 T C 11: 70,860,497 (GRCm39) E94G probably benign Het
Oas1h A T 5: 121,005,088 (GRCm39) N179Y probably damaging Het
Or1o11 T G 17: 37,756,595 (GRCm39) V61G probably benign Het
Or8b39 T A 9: 37,996,353 (GRCm39) S74T probably benign Het
Otof T C 5: 30,540,998 (GRCm39) D847G probably damaging Het
Pak1 C A 7: 97,547,842 (GRCm39) D331E possibly damaging Het
Pkd1l3 T C 8: 110,373,555 (GRCm39) W1374R probably benign Het
Pkdrej G T 15: 85,704,871 (GRCm39) T355K possibly damaging Het
Pramel27 A G 4: 143,579,892 (GRCm39) *492W probably null Het
Prkcd A T 14: 30,320,800 (GRCm39) F607I possibly damaging Het
Prrc2c A G 1: 162,535,435 (GRCm39) S775P unknown Het
Prss16 G T 13: 22,192,504 (GRCm39) H154N possibly damaging Het
Psme2b T C 11: 48,836,779 (GRCm39) D56G possibly damaging Het
Rapsn C T 2: 90,875,823 (GRCm39) P400L probably damaging Het
Rptn A G 3: 93,304,761 (GRCm39) D698G possibly damaging Het
Rragc T C 4: 123,818,658 (GRCm39) V291A possibly damaging Het
Rras2 A G 7: 113,716,629 (GRCm39) probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scyl2 A C 10: 89,476,794 (GRCm39) M777R probably benign Het
Serhl G T 15: 82,998,597 (GRCm39) V235L probably benign Het
Sh2b3 T C 5: 121,955,874 (GRCm39) Y536C probably damaging Het
Sh3pxd2a T C 19: 47,257,093 (GRCm39) M570V probably benign Het
Slamf8 C T 1: 172,411,800 (GRCm39) V232M probably benign Het
Slc6a21 T A 7: 44,929,941 (GRCm39) L143Q probably damaging Het
Snx9 T A 17: 5,949,670 (GRCm39) D123E probably benign Het
Spopfm2 G A 3: 94,083,155 (GRCm39) H219Y probably damaging Het
Supt6 C A 11: 78,108,767 (GRCm39) R1178L probably damaging Het
Sycp2 T G 2: 178,025,304 (GRCm39) E379D probably damaging Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tg A G 15: 66,719,008 (GRCm39) M2655V possibly damaging Het
Tiam2 C T 17: 3,561,440 (GRCm39) T1335I probably benign Het
Tmem154 T A 3: 84,573,693 (GRCm39) L12Q possibly damaging Het
Trpv3 A T 11: 73,174,499 (GRCm39) I289F possibly damaging Het
Tubgcp3 A G 8: 12,699,758 (GRCm39) L365P probably damaging Het
Tulp4 T C 17: 6,291,480 (GRCm39) probably null Het
Tyr A G 7: 87,142,072 (GRCm39) S163P possibly damaging Het
Usp42 A T 5: 143,713,533 (GRCm39) probably null Het
Vmn2r94 A G 17: 18,463,989 (GRCm39) M767T probably benign Het
Wasl A G 6: 24,619,533 (GRCm39) V329A unknown Het
Wdr62 T A 7: 29,953,466 (GRCm39) M635L possibly damaging Het
Wee1 G T 7: 109,721,722 (GRCm39) E56* probably null Het
Zc3h12c C T 9: 52,055,231 (GRCm39) G193S probably damaging Het
Zfp236 T A 18: 82,637,008 (GRCm39) Q1426L possibly damaging Het
Zfp74 T C 7: 29,634,751 (GRCm39) Y319C 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
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
YA93:Ccdc168 UTSW 1 44,104,245 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TCCATGTGGTCTTAGTCCAATGC -3'
(R):5'- ACTGACACGGTAGAATGTCAAG -3'

Sequencing Primer
(F):5'- CATCACTGAACATTATGGAAGACG -3'
(R):5'- CACGGTAGAATGTCAAGCTCTTG -3'
Posted On 2022-11-14