Incidental Mutation 'R0948:Ccdc175'
ID 81726
Institutional Source Beutler Lab
Gene Symbol Ccdc175
Ensembl Gene ENSMUSG00000021086
Gene Name coiled-coil domain containing 175
Synonyms 4930403N07Rik
MMRRC Submission 039087-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R0948 (G1)
Quality Score 200
Status Not validated
Chromosome 12
Chromosomal Location 72148074-72231803 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72177897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 434 (Y434H)
Ref Sequence ENSEMBL: ENSMUSP00000021494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021494]
AlphaFold E9PVB3
Predicted Effect probably damaging
Transcript: ENSMUST00000021494
AA Change: Y434H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021494
Gene: ENSMUSG00000021086
AA Change: Y434H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179978
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.4%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik C T 19: 8,867,390 (GRCm39) T63M probably damaging Het
Abcb1a T A 5: 8,790,621 (GRCm39) probably null Het
Ahrr T C 13: 74,361,888 (GRCm39) D537G probably damaging Het
Anxa4 T A 6: 86,718,913 (GRCm39) I269F probably damaging Het
Aoc1l1 A G 6: 48,953,278 (GRCm39) Y401C probably damaging Het
Atm A T 9: 53,407,258 (GRCm39) M1160K probably benign Het
Col19a1 C T 1: 24,335,882 (GRCm39) A855T probably damaging Het
Cyp2a4 A G 7: 26,010,213 (GRCm39) D246G probably damaging Het
Dmbt1 T C 7: 130,694,847 (GRCm39) L840P possibly damaging Het
Dock6 A T 9: 21,712,829 (GRCm39) D2009E probably damaging Het
E2f3 C T 13: 30,169,516 (GRCm39) A46T probably damaging Het
Ect2l A T 10: 18,016,334 (GRCm39) C635S probably damaging Het
Fer1l6 A G 15: 58,435,924 (GRCm39) D439G probably benign Het
Hao1 A C 2: 134,372,693 (GRCm39) M105R probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Igsf10 A G 3: 59,238,525 (GRCm39) I552T probably damaging Het
Il31ra A G 13: 112,666,912 (GRCm39) S470P possibly damaging Het
Mfsd1 A G 3: 67,504,067 (GRCm39) N353S possibly damaging Het
Mga T A 2: 119,772,140 (GRCm39) F1667I possibly damaging Het
Niban2 A G 2: 32,812,872 (GRCm39) Y480C probably damaging Het
Nwd2 T C 5: 63,964,655 (GRCm39) V1413A probably damaging Het
Or8b1 T G 9: 38,400,244 (GRCm39) S306R probably benign Het
Or8b50 G A 9: 38,517,787 (GRCm39) V9I possibly damaging Het
Osbpl10 T A 9: 114,996,187 (GRCm39) V119E probably damaging Het
Plec C A 15: 76,089,887 (GRCm39) R151L probably benign Het
Ptpn12 T C 5: 21,203,041 (GRCm39) H579R probably benign Het
Rnase4 G T 14: 51,342,362 (GRCm39) G29C probably damaging Het
Sim1 C A 10: 50,857,423 (GRCm39) S391* probably null Het
Sobp A T 10: 42,898,205 (GRCm39) I460N probably damaging Het
Spns3 A T 11: 72,436,766 (GRCm39) D75E probably damaging Het
Strn4 T A 7: 16,571,638 (GRCm39) C26* probably null Het
Tacstd2 T A 6: 67,512,102 (GRCm39) I197L probably damaging Het
Trpc6 A G 9: 8,610,416 (GRCm39) T295A possibly damaging Het
Txnl1 G T 18: 63,825,191 (GRCm39) S18R possibly damaging Het
U2surp A G 9: 95,343,550 (GRCm39) probably benign Het
Ube2frt A T 12: 36,140,934 (GRCm39) probably benign Het
Vwce A G 19: 10,630,441 (GRCm39) Y500C probably damaging Het
Wdr49 A C 3: 75,358,158 (GRCm39) S196A probably benign Het
Wfs1 T C 5: 37,124,905 (GRCm39) Y662C probably damaging Het
Wnt8b A C 19: 44,498,968 (GRCm39) D133A possibly damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Zfp532 C A 18: 65,756,889 (GRCm39) A274E probably damaging Het
Zfp74 A G 7: 29,635,362 (GRCm39) probably null 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
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
R4686:Ccdc175 UTSW 12 72,159,052 (GRCm39) missense probably damaging 1.00
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'- ACCCCTCTCACTCCAGTAGGCTCAG -3'
(R):5'- CAGAATCTGTGTGCTGTTGCTTCCC -3'

Sequencing Primer
(F):5'- caccagaagagggcatcag -3'
(R):5'- GCCGTTCCATCCTTGGATATTAAAC -3'
Posted On 2013-11-08