Incidental Mutation 'R6650:Ccdc102a'
ID 543600
Institutional Source Beutler Lab
Gene Symbol Ccdc102a
Ensembl Gene ENSMUSG00000063605
Gene Name coiled-coil domain containing 102A
Synonyms LOC234582
MMRRC Submission 044771-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6650 (G1)
Quality Score 51.0072
Status Validated
Chromosome 8
Chromosomal Location 95629497-95644726 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95639892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 134 (E134G)
Ref Sequence ENSEMBL: ENSMUSP00000077107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955]
AlphaFold Q3TMW1
Predicted Effect probably benign
Transcript: ENSMUST00000077955
AA Change: E134G

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: E134G

DomainStartEndE-ValueType
low complexity region 36 67 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
coiled coil region 101 160 N/A INTRINSIC
Pfam:Myosin_tail_1 311 508 8e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (44/44)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 A G 1: 78,659,639 (GRCm39) N97S probably benign Het
Aph1a T C 3: 95,803,598 (GRCm39) V220A probably benign Het
Bin2 T A 15: 100,567,301 (GRCm39) Q25L probably damaging Het
Cdh6 A G 15: 13,051,487 (GRCm39) V382A probably benign Het
Cep135 T A 5: 76,781,548 (GRCm39) V845E possibly damaging Het
Cngb3 T C 4: 19,364,168 (GRCm39) L124P probably damaging Het
Cped1 A G 6: 22,233,975 (GRCm39) N725S probably damaging Het
Dcn C A 10: 97,343,605 (GRCm39) N188K probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Ercc3 C T 18: 32,394,389 (GRCm39) R590C probably damaging Het
Fchsd1 A T 18: 38,099,555 (GRCm39) L213* probably null Het
Fmod A G 1: 133,968,745 (GRCm39) S262G probably benign Het
Gm45861 T C 8: 27,995,043 (GRCm39) S530P unknown Het
Ifih1 T C 2: 62,436,791 (GRCm39) D544G possibly damaging Het
Itpr1 A G 6: 108,371,034 (GRCm39) probably null Het
Larp1 CA CAA 11: 57,949,422 (GRCm39) probably null Het
Lbp T A 2: 158,151,587 (GRCm39) S102R probably benign Het
Lepr C A 4: 101,672,398 (GRCm39) Q1141K probably damaging Het
Mcm8 C A 2: 132,663,327 (GRCm39) N148K probably benign Het
Mcpt4 T G 14: 56,298,090 (GRCm39) T154P possibly damaging Het
Mrpl22 A G 11: 58,066,134 (GRCm39) Y76C probably damaging Het
Msln T C 17: 25,969,144 (GRCm39) I414V probably benign Het
Ncor1 G A 11: 62,225,367 (GRCm39) T1798I probably damaging Het
Nlrp4c T A 7: 6,068,948 (GRCm39) F283Y probably damaging Het
Os9 C T 10: 126,935,953 (GRCm39) probably null Het
Pira12 T A 7: 3,898,632 (GRCm39) Q272L probably benign Het
Pira13 T A 7: 3,819,898 (GRCm39) H555L possibly damaging Het
Pja2 T C 17: 64,599,936 (GRCm39) E516G probably damaging Het
Pofut1 T A 2: 153,101,270 (GRCm39) probably benign Het
Prl2b1 G T 13: 27,569,249 (GRCm39) H116Q probably benign Het
Ralgapa2 T C 2: 146,230,422 (GRCm39) K1048E probably damaging Het
Scnn1b G A 7: 121,502,043 (GRCm39) V234M probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Sh3pxd2a C T 19: 47,256,663 (GRCm39) G685D probably benign Het
Six4 C A 12: 73,150,299 (GRCm39) G749C probably benign Het
Tnn G A 1: 159,942,153 (GRCm39) T1115I probably damaging Het
Tpcn1 T A 5: 120,675,627 (GRCm39) Q779L probably null Het
Ugt2a2 A G 5: 87,622,459 (GRCm39) Y380H probably damaging Het
Xkr8 T C 4: 132,455,249 (GRCm39) T375A probably benign Het
Zdhhc20 T A 14: 58,096,032 (GRCm39) K135N probably damaging Het
Zfp235 T A 7: 23,836,463 (GRCm39) probably null Het
Zfp354c A G 11: 50,705,518 (GRCm39) V519A probably damaging Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ccdc102a APN 8 95,638,266 (GRCm39) splice site probably null
IGL01921:Ccdc102a APN 8 95,640,019 (GRCm39) missense probably damaging 1.00
IGL02961:Ccdc102a APN 8 95,629,978 (GRCm39) missense possibly damaging 0.95
R0413:Ccdc102a UTSW 8 95,629,914 (GRCm39) missense probably benign 0.23
R0423:Ccdc102a UTSW 8 95,632,554 (GRCm39) splice site probably benign
R0437:Ccdc102a UTSW 8 95,640,054 (GRCm39) missense probably damaging 1.00
R1468:Ccdc102a UTSW 8 95,632,714 (GRCm39) missense probably benign 0.06
R1468:Ccdc102a UTSW 8 95,632,714 (GRCm39) missense probably benign 0.06
R1540:Ccdc102a UTSW 8 95,634,341 (GRCm39) critical splice donor site probably null
R1893:Ccdc102a UTSW 8 95,640,171 (GRCm39) missense probably damaging 1.00
R2317:Ccdc102a UTSW 8 95,634,957 (GRCm39) missense probably null 1.00
R4280:Ccdc102a UTSW 8 95,634,444 (GRCm39) nonsense probably null
R6115:Ccdc102a UTSW 8 95,629,999 (GRCm39) missense probably benign
R6331:Ccdc102a UTSW 8 95,638,144 (GRCm39) missense probably benign
R7019:Ccdc102a UTSW 8 95,636,431 (GRCm39) missense probably benign 0.42
R7302:Ccdc102a UTSW 8 95,640,066 (GRCm39) missense probably damaging 1.00
R7402:Ccdc102a UTSW 8 95,629,981 (GRCm39) missense probably damaging 1.00
R7949:Ccdc102a UTSW 8 95,631,913 (GRCm39) missense probably damaging 1.00
R7995:Ccdc102a UTSW 8 95,634,495 (GRCm39) missense probably damaging 0.99
R8166:Ccdc102a UTSW 8 95,639,944 (GRCm39) missense possibly damaging 0.86
R8537:Ccdc102a UTSW 8 95,632,684 (GRCm39) missense probably benign 0.00
R9179:Ccdc102a UTSW 8 95,639,748 (GRCm39) missense possibly damaging 0.79
R9297:Ccdc102a UTSW 8 95,638,120 (GRCm39) missense possibly damaging 0.78
R9599:Ccdc102a UTSW 8 95,639,901 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTCTTCCAAGTCGTGTAGTAGG -3'
(R):5'- TTGAGCCTAGCCCCAAGTTC -3'

Sequencing Primer
(F):5'- AGTCGTGTAGTAGGGCGCAC -3'
(R):5'- TCACTATGAGCCACGGTCC -3'
Posted On 2019-03-22