Incidental Mutation 'R4415:Ccdc125'
ID 326808
Institutional Source Beutler Lab
Gene Symbol Ccdc125
Ensembl Gene ENSMUSG00000048924
Gene Name coiled-coil domain containing 125
Synonyms 5830436D01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4415 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100806225-100833748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100832817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 465 (S465P)
Ref Sequence ENSEMBL: ENSMUSP00000058484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057325] [ENSMUST00000170347]
AlphaFold Q5U465
Predicted Effect possibly damaging
Transcript: ENSMUST00000057325
AA Change: S465P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000058484
Gene: ENSMUSG00000048924
AA Change: S465P

DomainStartEndE-ValueType
coiled coil region 101 193 N/A INTRINSIC
coiled coil region 286 308 N/A INTRINSIC
Blast:ETS 362 447 1e-35 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000170347
SMART Domains Protein: ENSMUSP00000130107
Gene: ENSMUSG00000048924

DomainStartEndE-ValueType
coiled coil region 101 151 N/A INTRINSIC
coiled coil region 260 282 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A T 11: 105,895,947 (GRCm39) D631V probably benign Het
Adam17 T C 12: 21,395,702 (GRCm39) I274V possibly damaging Het
Aebp1 A G 11: 5,815,451 (GRCm39) D303G probably damaging Het
B020004C17Rik T C 14: 57,254,874 (GRCm39) *233R probably null Het
Bcl9l C T 9: 44,413,176 (GRCm39) P127S possibly damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Caly T C 7: 139,652,593 (GRCm39) T52A probably damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Colq T C 14: 31,257,645 (GRCm39) K231E probably damaging Het
Fam32a T A 8: 72,975,785 (GRCm39) I77N probably damaging Het
Impdh1 C T 6: 29,209,221 (GRCm39) V49M probably damaging Het
Kcnh7 A G 2: 62,536,417 (GRCm39) I1055T probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lama2 G T 10: 26,865,340 (GRCm39) Y947* probably null Het
Myo5b T A 18: 74,713,479 (GRCm39) I108N probably damaging Het
Nvl T C 1: 180,932,679 (GRCm39) T713A probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Pappa A G 4: 65,223,532 (GRCm39) T1236A probably benign Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Rcl1 G A 19: 29,095,762 (GRCm39) V116I probably benign Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rfx2 T A 17: 57,094,733 (GRCm39) T204S possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor1 T C 8: 106,344,608 (GRCm39) S581P probably benign Het
Rnf213 T A 11: 119,374,790 (GRCm39) V5084E probably damaging Het
Scn9a A T 2: 66,357,037 (GRCm39) V1077E probably damaging Het
Slc15a5 A G 6: 138,056,754 (GRCm39) V54A probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Snx19 T A 9: 30,348,779 (GRCm39) L804Q probably damaging Het
Spata31e5 T A 1: 28,816,214 (GRCm39) Q606L probably benign Het
Specc1l C A 10: 75,082,162 (GRCm39) N519K possibly damaging Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stambp A T 6: 83,534,464 (GRCm39) N274K probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tacc3 T G 5: 33,824,028 (GRCm39) probably null Het
Tubb1 G A 2: 174,299,466 (GRCm39) E383K probably benign Het
Ube3b A T 5: 114,550,505 (GRCm39) D844V probably damaging Het
Other mutations in Ccdc125
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01888:Ccdc125 APN 13 100,823,610 (GRCm39) splice site probably benign
IGL02867:Ccdc125 APN 13 100,820,790 (GRCm39) splice site probably benign
R0002:Ccdc125 UTSW 13 100,830,114 (GRCm39) nonsense probably null
R0014:Ccdc125 UTSW 13 100,820,846 (GRCm39) missense possibly damaging 0.82
R0717:Ccdc125 UTSW 13 100,826,866 (GRCm39) missense probably damaging 0.99
R1661:Ccdc125 UTSW 13 100,830,081 (GRCm39) missense probably benign 0.37
R1665:Ccdc125 UTSW 13 100,830,081 (GRCm39) missense probably benign 0.37
R3118:Ccdc125 UTSW 13 100,826,827 (GRCm39) missense possibly damaging 0.46
R3751:Ccdc125 UTSW 13 100,814,459 (GRCm39) missense possibly damaging 0.90
R4838:Ccdc125 UTSW 13 100,814,453 (GRCm39) missense possibly damaging 0.52
R5734:Ccdc125 UTSW 13 100,823,622 (GRCm39) missense possibly damaging 0.66
R5812:Ccdc125 UTSW 13 100,820,812 (GRCm39) missense probably damaging 1.00
R6031:Ccdc125 UTSW 13 100,820,877 (GRCm39) splice site probably null
R6031:Ccdc125 UTSW 13 100,820,877 (GRCm39) splice site probably null
R6419:Ccdc125 UTSW 13 100,826,834 (GRCm39) missense probably damaging 1.00
R6456:Ccdc125 UTSW 13 100,832,817 (GRCm39) missense possibly damaging 0.83
R6733:Ccdc125 UTSW 13 100,830,995 (GRCm39) missense probably benign 0.04
R7183:Ccdc125 UTSW 13 100,826,866 (GRCm39) missense possibly damaging 0.90
R7354:Ccdc125 UTSW 13 100,814,382 (GRCm39) splice site probably null
R7644:Ccdc125 UTSW 13 100,814,884 (GRCm39) splice site probably null
R7910:Ccdc125 UTSW 13 100,819,327 (GRCm39) missense possibly damaging 0.83
R7948:Ccdc125 UTSW 13 100,832,910 (GRCm39) missense probably benign 0.00
R7973:Ccdc125 UTSW 13 100,806,331 (GRCm39) start gained probably benign
R8669:Ccdc125 UTSW 13 100,832,683 (GRCm39) missense probably damaging 0.97
R8695:Ccdc125 UTSW 13 100,814,552 (GRCm39) missense probably benign
R8736:Ccdc125 UTSW 13 100,815,833 (GRCm39) missense possibly damaging 0.83
R9297:Ccdc125 UTSW 13 100,832,920 (GRCm39) missense probably damaging 0.97
R9318:Ccdc125 UTSW 13 100,832,920 (GRCm39) missense probably damaging 0.97
R9424:Ccdc125 UTSW 13 100,820,876 (GRCm39) missense possibly damaging 0.90
R9513:Ccdc125 UTSW 13 100,826,875 (GRCm39) missense probably benign 0.15
X0027:Ccdc125 UTSW 13 100,818,353 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCACATCAGAGAAAGGTTAGT -3'
(R):5'- ATATAGTTGTTCTTCTGTTTTGGCAA -3'

Sequencing Primer
(F):5'- GAGAAAGGTTAGTTACATGCTCGCTC -3'
(R):5'- CAGACAGTCTTTGCAGTGCTGAAC -3'
Posted On 2015-07-07