Incidental Mutation 'R4686:Ccdc175'
ID 353691
Institutional Source Beutler Lab
Gene Symbol Ccdc175
Ensembl Gene ENSMUSG00000021086
Gene Name coiled-coil domain containing 175
Synonyms 4930403N07Rik
MMRRC Submission 041937-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R4686 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 72148074-72231803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72159052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 629 (S629N)
Ref Sequence ENSEMBL: ENSMUSP00000021494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021494]
AlphaFold E9PVB3
Predicted Effect probably damaging
Transcript: ENSMUST00000021494
AA Change: S629N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: S629N

DomainStartEndE-ValueType
coiled coil region 129 164 N/A INTRINSIC
coiled coil region 205 235 N/A INTRINSIC
coiled coil region 295 383 N/A INTRINSIC
low complexity region 470 490 N/A INTRINSIC
coiled coil region 517 537 N/A INTRINSIC
low complexity region 803 819 N/A INTRINSIC
Meta Mutation Damage Score 0.1968 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 26,983,837 (GRCm39) N411S probably damaging Het
Adnp A C 2: 168,024,309 (GRCm39) C995W possibly damaging Het
Akap6 CA C 12: 52,934,406 (GRCm39) probably null Het
Ano2 T G 6: 125,767,254 (GRCm39) I228M probably benign Het
Arhgap21 T C 2: 20,868,033 (GRCm39) D830G probably damaging Het
Atp13a2 G A 4: 140,730,587 (GRCm39) probably null Het
Cdhr4 T C 9: 107,872,883 (GRCm39) W311R probably benign Het
Chaf1b A G 16: 93,681,472 (GRCm39) H30R probably benign Het
Clnk G A 5: 38,899,180 (GRCm39) probably benign Het
Copb1 A G 7: 113,820,971 (GRCm39) S773P possibly damaging Het
Cse1l A G 2: 166,774,080 (GRCm39) D198G probably damaging Het
Ears2 A G 7: 121,647,427 (GRCm39) S286P probably damaging Het
Efcab7 A G 4: 99,735,318 (GRCm39) E114G probably benign Het
Fanca G C 8: 123,995,673 (GRCm39) probably benign Het
Flt3 A G 5: 147,313,858 (GRCm39) L64P probably damaging Het
Gabrb1 A G 5: 71,857,365 (GRCm39) T3A possibly damaging Het
Gm10384 T C 15: 36,871,897 (GRCm39) noncoding transcript Het
Gm5117 G A 8: 32,229,284 (GRCm39) noncoding transcript Het
Gpr141 T A 13: 19,935,951 (GRCm39) I275F probably benign Het
Greb1l A T 18: 10,522,112 (GRCm39) E736V probably damaging Het
Hc T C 2: 34,929,260 (GRCm39) E279G possibly damaging Het
Hivep1 C T 13: 42,309,326 (GRCm39) T522M probably benign Het
Hspa12a T A 19: 58,788,181 (GRCm39) E547V possibly damaging Het
Il10ra A G 9: 45,180,357 (GRCm39) L5S probably damaging Het
Iqcf6 G T 9: 106,504,543 (GRCm39) W69L probably damaging Het
Iqgap2 T C 13: 95,858,117 (GRCm39) N379S probably damaging Het
Itpr2 A G 6: 146,131,273 (GRCm39) I1977T probably damaging Het
Kcnq1 A T 7: 142,661,466 (GRCm39) Y124F probably benign Het
Lamp5 C T 2: 135,900,923 (GRCm39) T41M probably damaging Het
Lgr5 A G 10: 115,294,648 (GRCm39) probably benign Het
Mlec A G 5: 115,288,355 (GRCm39) I167T possibly damaging Het
Myf6 A G 10: 107,329,689 (GRCm39) V198A probably benign Het
Nceh1 C T 3: 27,295,818 (GRCm39) R360C probably damaging Het
Nos2 C A 11: 78,819,456 (GRCm39) T56N possibly damaging Het
Npw T G 17: 24,876,386 (GRCm39) H175P probably benign Het
Nrxn3 A T 12: 89,477,421 (GRCm39) I899F probably damaging Het
Ociad1 A G 5: 73,464,078 (GRCm39) T179A possibly damaging Het
Or1e19 A G 11: 73,316,264 (GRCm39) S182P probably benign Het
Or52b4 A G 7: 102,184,356 (GRCm39) Y134C probably damaging Het
Or8b48 T A 9: 38,493,327 (GRCm39) F251L probably damaging Het
Pacsin2 T C 15: 83,265,976 (GRCm39) N74D probably benign Het
Pcdh7 A G 5: 58,286,511 (GRCm39) I1196V probably benign Het
Pdxk A T 10: 78,282,837 (GRCm39) probably null Het
Phb2 G A 6: 124,690,105 (GRCm39) probably null Het
Pus7l T A 15: 94,438,092 (GRCm39) N251I probably damaging Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Runx2 T A 17: 44,950,572 (GRCm39) D327V probably damaging Het
Srp68 A T 11: 116,156,227 (GRCm39) C172S probably damaging Het
Stk25 A G 1: 93,551,142 (GRCm39) probably null Het
Tbrg4 C T 11: 6,568,468 (GRCm39) R437Q probably benign Het
Tedc2 C T 17: 24,436,862 (GRCm39) probably null Het
Teddm1a T A 1: 153,768,196 (GRCm39) I220N probably damaging Het
Thoc1 G T 18: 9,970,312 (GRCm39) E221* probably null Het
Tmem132d G T 5: 127,869,674 (GRCm39) D553E possibly damaging Het
Topors A T 4: 40,261,694 (GRCm39) V530D probably benign Het
Tpx2 T C 2: 152,731,103 (GRCm39) V515A possibly damaging Het
Trim24 A G 6: 37,885,240 (GRCm39) H191R probably damaging Het
Ttn G A 2: 76,567,914 (GRCm39) R27660W probably damaging Het
Vmn1r203 T C 13: 22,708,528 (GRCm39) L103P probably damaging Het
Vmn1r233 C T 17: 21,214,368 (GRCm39) S194N probably benign Het
Vmn2r108 T C 17: 20,691,636 (GRCm39) K296E probably damaging Het
Vmn2r88 G A 14: 51,650,796 (GRCm39) E170K probably benign Het
Zfp740 C T 15: 102,117,184 (GRCm39) probably benign Het
Zmym5 A G 14: 57,049,618 (GRCm39) probably benign Het
Other mutations in Ccdc175
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Ccdc175 APN 12 72,177,916 (GRCm39) splice site probably benign
IGL01805:Ccdc175 APN 12 72,176,003 (GRCm39) splice site probably benign
IGL01807:Ccdc175 APN 12 72,206,616 (GRCm39) missense probably benign 0.02
IGL01985:Ccdc175 APN 12 72,175,052 (GRCm39) nonsense probably null
IGL02719:Ccdc175 APN 12 72,221,899 (GRCm39) missense probably damaging 0.97
IGL02944:Ccdc175 APN 12 72,164,667 (GRCm39) missense probably benign 0.02
IGL03113:Ccdc175 APN 12 72,191,557 (GRCm39) missense probably benign 0.00
IGL03143:Ccdc175 APN 12 72,182,832 (GRCm39) missense probably benign 0.03
IGL03356:Ccdc175 APN 12 72,186,667 (GRCm39) splice site probably null
R0009:Ccdc175 UTSW 12 72,182,739 (GRCm39) missense possibly damaging 0.87
R0233:Ccdc175 UTSW 12 72,152,650 (GRCm39) missense probably benign 0.00
R0233:Ccdc175 UTSW 12 72,152,650 (GRCm39) missense probably benign 0.00
R0609:Ccdc175 UTSW 12 72,204,281 (GRCm39) missense probably benign 0.07
R0706:Ccdc175 UTSW 12 72,186,722 (GRCm39) missense probably benign 0.04
R0948:Ccdc175 UTSW 12 72,177,897 (GRCm39) missense probably damaging 1.00
R1054:Ccdc175 UTSW 12 72,225,318 (GRCm39) missense possibly damaging 0.85
R1166:Ccdc175 UTSW 12 72,152,706 (GRCm39) missense probably damaging 1.00
R1481:Ccdc175 UTSW 12 72,148,722 (GRCm39) unclassified probably benign
R1860:Ccdc175 UTSW 12 72,152,700 (GRCm39) missense probably benign
R2077:Ccdc175 UTSW 12 72,186,794 (GRCm39) missense possibly damaging 0.54
R3806:Ccdc175 UTSW 12 72,227,598 (GRCm39) missense possibly damaging 0.72
R3879:Ccdc175 UTSW 12 72,182,792 (GRCm39) missense probably damaging 1.00
R3887:Ccdc175 UTSW 12 72,182,822 (GRCm39) missense possibly damaging 0.65
R4557:Ccdc175 UTSW 12 72,175,080 (GRCm39) missense probably benign 0.08
R4585:Ccdc175 UTSW 12 72,221,953 (GRCm39) missense possibly damaging 0.65
R4766:Ccdc175 UTSW 12 72,158,979 (GRCm39) missense probably benign 0.00
R4773:Ccdc175 UTSW 12 72,182,822 (GRCm39) missense probably damaging 0.99
R4909:Ccdc175 UTSW 12 72,206,527 (GRCm39) missense probably damaging 1.00
R4964:Ccdc175 UTSW 12 72,227,619 (GRCm39) missense probably damaging 1.00
R5338:Ccdc175 UTSW 12 72,231,745 (GRCm39) missense probably damaging 0.99
R5539:Ccdc175 UTSW 12 72,191,587 (GRCm39) missense probably benign 0.00
R5897:Ccdc175 UTSW 12 72,206,578 (GRCm39) missense probably benign 0.06
R6128:Ccdc175 UTSW 12 72,175,933 (GRCm39) missense probably benign 0.07
R6520:Ccdc175 UTSW 12 72,186,804 (GRCm39) missense probably damaging 0.98
R6523:Ccdc175 UTSW 12 72,191,565 (GRCm39) missense probably benign 0.01
R6917:Ccdc175 UTSW 12 72,231,679 (GRCm39) missense probably damaging 1.00
R7035:Ccdc175 UTSW 12 72,202,419 (GRCm39) missense probably benign 0.01
R7097:Ccdc175 UTSW 12 72,175,183 (GRCm39) splice site probably null
R7339:Ccdc175 UTSW 12 72,182,815 (GRCm39) missense probably damaging 1.00
R7450:Ccdc175 UTSW 12 72,202,447 (GRCm39) missense possibly damaging 0.93
R7481:Ccdc175 UTSW 12 72,202,398 (GRCm39) missense probably benign 0.00
R7676:Ccdc175 UTSW 12 72,148,821 (GRCm39) missense possibly damaging 0.57
R8045:Ccdc175 UTSW 12 72,202,676 (GRCm39) intron probably benign
R8383:Ccdc175 UTSW 12 72,155,952 (GRCm39) missense possibly damaging 0.95
R8470:Ccdc175 UTSW 12 72,202,392 (GRCm39) missense probably damaging 0.97
R9211:Ccdc175 UTSW 12 72,153,458 (GRCm39) missense probably damaging 1.00
R9739:Ccdc175 UTSW 12 72,186,792 (GRCm39) missense probably benign 0.00
Z1088:Ccdc175 UTSW 12 72,175,153 (GRCm39) missense probably benign 0.01
Z1176:Ccdc175 UTSW 12 72,159,082 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- AAGCTCATTGCAAGAGTTCTCC -3'
(R):5'- CAAGCTTTGGGACATTCTGCG -3'

Sequencing Primer
(F):5'- CCTCTTTTCTCAGGTGCAAAG -3'
(R):5'- GGACATTCTGCGGGAATAATTC -3'
Posted On 2015-10-21