Incidental Mutation 'R5729:Ccdc103'
ID 452672
Institutional Source Beutler Lab
Gene Symbol Ccdc103
Ensembl Gene ENSMUSG00000020930
Gene Name coiled-coil domain containing 103
Synonyms 1700039D13Rik
MMRRC Submission 043346-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R5729 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102772050-102776042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102773904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 50 (I50F)
Ref Sequence ENSEMBL: ENSMUSP00000125214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021306] [ENSMUST00000021307] [ENSMUST00000067444] [ENSMUST00000100369] [ENSMUST00000107060] [ENSMUST00000159834]
AlphaFold Q9D9P2
Predicted Effect probably benign
Transcript: ENSMUST00000021306
SMART Domains Protein: ENSMUSP00000021306
Gene: ENSMUSG00000020929

DomainStartEndE-ValueType
Pfam:EFTUD2 3 110 1.1e-42 PFAM
Pfam:GTP_EFTU 127 440 9.6e-47 PFAM
Pfam:GTP_EFTU_D2 489 566 3.8e-15 PFAM
Pfam:EFG_II 584 656 9.9e-11 PFAM
EFG_IV 703 824 1.1e-16 SMART
EFG_C 826 915 1.14e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000021307
AA Change: I50F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021307
Gene: ENSMUSG00000020930
AA Change: I50F

DomainStartEndE-ValueType
Pfam:Dynein_attach_N 7 74 3.3e-32 PFAM
Pfam:RPAP3_C 98 188 1.2e-19 PFAM
low complexity region 219 233 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067444
SMART Domains Protein: ENSMUSP00000064691
Gene: ENSMUSG00000020932

DomainStartEndE-ValueType
Pfam:Filament_head 2 64 1.7e-8 PFAM
Filament 65 373 2.34e-136 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100369
SMART Domains Protein: ENSMUSP00000097938
Gene: ENSMUSG00000075510

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IG 39 142 3.73e0 SMART
IG_like 275 361 1.61e1 SMART
transmembrane domain 377 399 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107060
SMART Domains Protein: ENSMUSP00000102675
Gene: ENSMUSG00000020929

DomainStartEndE-ValueType
low complexity region 16 26 N/A INTRINSIC
low complexity region 32 50 N/A INTRINSIC
Pfam:GTP_EFTU 126 439 9.6e-44 PFAM
Pfam:Miro 130 260 2.5e-6 PFAM
Pfam:GTP_EFTU_D2 488 565 7.9e-13 PFAM
Pfam:EFG_II 583 655 8.2e-10 PFAM
EFG_IV 702 823 1.1e-16 SMART
EFG_C 825 914 1.14e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123833
Predicted Effect probably damaging
Transcript: ENSMUST00000159834
AA Change: I50F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125214
Gene: ENSMUSG00000020930
AA Change: I50F

DomainStartEndE-ValueType
coiled coil region 8 33 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148209
Meta Mutation Damage Score 0.2086 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (62/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a coiled-coil domain. [provided by RefSeq, Apr 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss2 A T 1: 177,623,824 (GRCm39) V46E possibly damaging Het
Aldoart2 T C 12: 55,612,690 (GRCm39) V205A probably benign Het
Atp1a2 A G 1: 172,120,938 (GRCm39) S45P probably damaging Het
Atp4a A G 7: 30,411,851 (GRCm39) K29E possibly damaging Het
AU040320 T A 4: 126,724,208 (GRCm39) D428E probably damaging Het
Bend7 T C 2: 4,768,085 (GRCm39) L347P probably damaging Het
Cacna2d1 T A 5: 16,140,037 (GRCm39) L9* probably null Het
Cdc5l T C 17: 45,737,495 (GRCm39) I88V probably benign Het
Cracr2a T C 6: 127,584,199 (GRCm39) V86A possibly damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dgkd C T 1: 87,864,054 (GRCm39) Q90* probably null Het
Dnajc21 A T 15: 10,449,682 (GRCm39) D446E probably benign Het
Fam13a T G 6: 58,916,292 (GRCm39) R648S probably damaging Het
Gabrg2 A G 11: 41,858,450 (GRCm39) V226A probably damaging Het
Gm5499 A T 17: 87,385,944 (GRCm39) noncoding transcript Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Irf2bp1 G T 7: 18,739,172 (GRCm39) E271* probably null Het
Krt86 T G 15: 101,374,429 (GRCm39) V274G probably benign Het
Lats2 A T 14: 57,960,192 (GRCm39) C151S probably benign Het
Mapk3 A T 7: 126,363,979 (GRCm39) T254S probably benign Het
Mat2b A T 11: 40,573,373 (GRCm39) M202K probably damaging Het
Mos A G 4: 3,870,971 (GRCm39) Y282H probably benign Het
Myo3b A G 2: 69,936,083 (GRCm39) K108R probably damaging Het
Naa16 A G 14: 79,593,220 (GRCm39) Y417H probably damaging Het
Oat A T 7: 132,159,984 (GRCm39) I412N probably damaging Het
Or4d11 A T 19: 12,013,272 (GRCm39) I278N probably damaging Het
Pcdh1 A T 18: 38,335,999 (GRCm39) V73D probably damaging Het
Pigv A T 4: 133,392,134 (GRCm39) Y345* probably null Het
Pitpnc1 G T 11: 107,228,264 (GRCm39) F34L probably benign Het
Plxnd1 A G 6: 115,942,838 (GRCm39) L1282P probably damaging Het
Ppp1r3a T C 6: 14,719,762 (GRCm39) D384G probably benign Het
Ppp2ca G A 11: 52,008,856 (GRCm39) E119K probably damaging Het
Psg29 A T 7: 16,944,459 (GRCm39) N323I probably damaging Het
Rasa4 T C 5: 136,122,016 (GRCm39) V108A probably benign Het
Rbm14 A G 19: 4,852,577 (GRCm39) probably benign Het
Rfc1 A T 5: 65,434,795 (GRCm39) V657E probably damaging Het
Rhcg A T 7: 79,250,371 (GRCm39) N237K probably damaging Het
Rpgrip1 A G 14: 52,397,617 (GRCm39) Q1302R probably benign Het
Rragc A G 4: 123,818,645 (GRCm39) M287V possibly damaging Het
Scn7a A G 2: 66,572,301 (GRCm39) probably null Het
Sema6a C T 18: 47,414,410 (GRCm39) C506Y probably damaging Het
Senp1 G T 15: 97,964,412 (GRCm39) H267Q possibly damaging Het
Skor2 A G 18: 76,946,578 (GRCm39) E100G unknown Het
Slc38a11 A T 2: 65,147,365 (GRCm39) C371S probably benign Het
Snai3 G A 8: 123,181,629 (GRCm39) A276V probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spag6 C T 2: 18,720,525 (GRCm39) T99I probably benign Het
Spop A G 11: 95,376,675 (GRCm39) I243V possibly damaging Het
Sra1 A T 18: 36,800,496 (GRCm39) probably benign Het
Stag3 T A 5: 138,288,485 (GRCm39) S140T possibly damaging Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tbc1d2b G C 9: 90,089,925 (GRCm39) A868G probably benign Het
Tead2 A G 7: 44,870,166 (GRCm39) probably benign Het
Tmem53 C A 4: 117,125,669 (GRCm39) H261N probably damaging Het
Ube4a A T 9: 44,844,627 (GRCm39) S932T probably damaging Het
Usp9y A T Y: 1,381,339 (GRCm39) D827E probably damaging Het
Vmn2r53 T C 7: 12,334,733 (GRCm39) E309G probably damaging Het
Wrn T C 8: 33,758,806 (GRCm39) S1026G probably benign Het
Zfp646 G A 7: 127,484,626 (GRCm39) A1760T probably damaging Het
Other mutations in Ccdc103
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1909:Ccdc103 UTSW 11 102,773,392 (GRCm39) missense probably benign 0.20
R4073:Ccdc103 UTSW 11 102,774,925 (GRCm39) missense probably damaging 1.00
R5000:Ccdc103 UTSW 11 102,774,932 (GRCm39) missense probably benign 0.00
R6552:Ccdc103 UTSW 11 102,774,970 (GRCm39) missense probably benign 0.01
R6774:Ccdc103 UTSW 11 102,773,519 (GRCm39) missense probably damaging 1.00
R7115:Ccdc103 UTSW 11 102,774,636 (GRCm39) missense possibly damaging 0.92
R9149:Ccdc103 UTSW 11 102,774,922 (GRCm39) missense probably benign 0.03
X0026:Ccdc103 UTSW 11 102,773,408 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- CCTGAAAGATGCTGAGCACAG -3'
(R):5'- TCTGTTGGCTGTCATGAGAC -3'

Sequencing Primer
(F):5'- GCAGCTAGCCCATTTGAAGTG -3'
(R):5'- GACAGGGTCATAGCTTTATCACAG -3'
Posted On 2017-01-03