Incidental Mutation 'R6382:Ccdc105'
ID515379
Institutional Source Beutler Lab
Gene Symbol Ccdc105
Ensembl Gene ENSMUSG00000078442
Gene Namecoiled-coil domain containing 105
Synonyms4931413A09Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #R6382 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location78746926-78753065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 78752841 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 45 (T45I)
Ref Sequence ENSEMBL: ENSMUSP00000101022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105383]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105383
AA Change: T45I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: T45I

DomainStartEndE-ValueType
Pfam:Tektin 115 470 1.6e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210562
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,600,986 M148K probably benign Het
Aldoc T C 11: 78,325,742 I242T probably benign Het
Camta2 T C 11: 70,672,041 T927A probably damaging Het
Ccdc30 T C 4: 119,404,166 R25G possibly damaging Het
Cdh16 T A 8: 104,621,543 M181L possibly damaging Het
Clstn1 A T 4: 149,626,120 probably null Het
Cnot6l C A 5: 96,128,999 R110L probably damaging Het
Col7a1 G A 9: 108,975,393 S2264N unknown Het
Cspp1 A G 1: 10,083,475 probably null Het
Cul1 T A 6: 47,502,439 L213Q probably damaging Het
Cuta T C 17: 26,938,454 Q124R probably benign Het
Cyp1a1 T A 9: 57,700,690 N200K probably damaging Het
Dag1 C A 9: 108,208,137 A602S possibly damaging Het
Gm4707 G A 17: 71,459,243 probably benign Het
Gm813 T C 16: 58,613,910 E148G possibly damaging Het
Gpat2 G C 2: 127,431,918 G294R possibly damaging Het
H2-T23 T C 17: 36,031,832 Y138C probably damaging Het
Hnf4a A T 2: 163,569,006 M408L probably benign Het
Hpse2 A G 19: 43,388,202 L37P possibly damaging Het
Hsd17b6 A T 10: 127,991,327 I292N probably damaging Het
Hsp90aa1 A T 12: 110,695,517 probably null Het
Ifit1bl1 T A 19: 34,594,883 Y58F probably benign Het
Igkv10-95 A G 6: 68,680,688 T43A probably benign Het
Igkv6-17 C T 6: 70,371,830 Q62* probably null Het
Jakmip2 A G 18: 43,571,179 S367P possibly damaging Het
Lrrc40 A G 3: 158,058,696 D416G probably damaging Het
Mdm2 A G 10: 117,692,721 V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 75,125,769 probably null Het
Myo1b C T 1: 51,774,307 probably null Het
Notch2 A G 3: 98,141,543 D1799G probably damaging Het
Obscn C T 11: 58,999,413 G7431D unknown Het
Obscn A T 11: 59,042,208 C4781S probably damaging Het
Olfr1351 C A 10: 79,017,517 S65Y probably damaging Het
Olfr237-ps1 T A 6: 43,153,965 I220N probably damaging Het
Pard3 T A 8: 127,376,783 V411D probably damaging Het
Pfkl T C 10: 77,999,837 R246G probably damaging Het
Pgs1 T C 11: 118,003,360 Y238H probably damaging Het
Pik3c2g A G 6: 139,719,998 E15G possibly damaging Het
Pja2 A G 17: 64,309,615 V95A probably benign Het
Ripor2 T C 13: 24,677,845 I207T possibly damaging Het
Rps15 A G 10: 80,293,986 Y115C probably damaging Het
Shkbp1 C A 7: 27,352,059 E192* probably null Het
Slc23a4 T A 6: 34,957,043 M42L probably benign Het
Snx25 T A 8: 46,055,991 S373C probably benign Het
Sppl2a A T 2: 126,917,029 probably null Het
Tpcn2 A G 7: 145,269,749 S256P possibly damaging Het
Txk C T 5: 72,736,480 probably benign Het
Ubr2 C G 17: 46,957,315 W991S possibly damaging Het
Ufc1 A G 1: 171,294,675 W28R probably damaging Het
Unc93b1 C A 19: 3,935,297 A35E probably benign Het
Ush2a A G 1: 188,814,302 N3425S probably benign Het
Vmn1r32 A G 6: 66,553,361 Y144H probably benign Het
Vmn1r76 A G 7: 11,930,499 F228L probably damaging Het
Zfc3h1 A G 10: 115,407,908 N715D probably benign Het
Zfp933 T C 4: 147,825,868 S424G probably benign Het
Other mutations in Ccdc105
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Ccdc105 APN 10 78750569 missense probably damaging 1.00
IGL01632:Ccdc105 APN 10 78748702 missense probably benign 0.01
IGL02473:Ccdc105 APN 10 78750594 missense probably benign 0.05
IGL02606:Ccdc105 APN 10 78748466 missense probably benign 0.01
IGL03356:Ccdc105 APN 10 78747132 missense possibly damaging 0.52
R0096:Ccdc105 UTSW 10 78748705 missense probably benign 0.01
R0096:Ccdc105 UTSW 10 78748705 missense probably benign 0.01
R0666:Ccdc105 UTSW 10 78750547 missense probably benign 0.04
R1756:Ccdc105 UTSW 10 78747197 missense probably damaging 0.96
R1757:Ccdc105 UTSW 10 78747224 missense probably benign 0.02
R1765:Ccdc105 UTSW 10 78748668 missense probably benign 0.21
R1956:Ccdc105 UTSW 10 78750539 critical splice donor site probably null
R2305:Ccdc105 UTSW 10 78748502 missense probably damaging 1.00
R3802:Ccdc105 UTSW 10 78748480 missense probably damaging 1.00
R3845:Ccdc105 UTSW 10 78748698 missense probably benign
R4023:Ccdc105 UTSW 10 78752893 missense probably benign 0.03
R4808:Ccdc105 UTSW 10 78752864 missense probably benign 0.02
R4812:Ccdc105 UTSW 10 78749216 missense probably benign 0.01
R5391:Ccdc105 UTSW 10 78752854 nonsense probably null
R5434:Ccdc105 UTSW 10 78748650 nonsense probably null
R6743:Ccdc105 UTSW 10 78752892 missense probably benign 0.01
R6749:Ccdc105 UTSW 10 78752838 missense possibly damaging 0.95
R7177:Ccdc105 UTSW 10 78752490 missense probably damaging 1.00
X0057:Ccdc105 UTSW 10 78750541 missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CCATTGATCTGGTGCTGTGC -3'
(R):5'- GCATTCTAGCCACCAGTAAAGAG -3'

Sequencing Primer
(F):5'- CATAGGCAGCGGTAGGC -3'
(R):5'- CCAGTAAAGAGTGGTGTGTGG -3'
Posted On2018-05-04