Incidental Mutation 'R7019:Ccdc102a'
ID545511
Institutional Source Beutler Lab
Gene Symbol Ccdc102a
Ensembl Gene ENSMUSG00000063605
Gene Namecoiled-coil domain containing 102A
SynonymsLOC234582
Accession Numbers

Genbank: NM_001033533; MGI: 2686927

Is this an essential gene? Probably non essential (E-score: 0.152) question?
Stock #R7019 (G1)
Quality Score225.009
Status Not validated
Chromosome8
Chromosomal Location94902869-94918098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94909803 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 287 (S287G)
Ref Sequence ENSEMBL: ENSMUSP00000077107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955] [ENSMUST00000162020]
Predicted Effect probably benign
Transcript: ENSMUST00000077955
AA Change: S287G

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: S287G

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
Predicted Effect probably benign
Transcript: ENSMUST00000162020
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A T 16: 8,618,531 K414* probably null Het
Aco1 T A 4: 40,186,376 I596N probably damaging Het
Adgre1 A C 17: 57,410,945 D319A probably damaging Het
BC067074 C T 13: 113,351,750 T102I probably benign Het
Birc6 T C 17: 74,609,345 V445A probably benign Het
Btd A C 14: 31,667,105 Q261P probably damaging Het
Btd G T 14: 31,667,106 Q261H possibly damaging Het
C7 T A 15: 5,045,682 Y176F probably benign Het
Ccdc178 T A 18: 22,150,438 T12S probably benign Het
Cnga4 G T 7: 105,405,829 A104S probably benign Het
Col10a1 G T 10: 34,394,951 L306F probably damaging Het
Cpne5 T C 17: 29,226,222 D36G probably damaging Het
Csmd2 G A 4: 128,369,063 D681N Het
Cstl1 A G 2: 148,755,303 M75V probably benign Het
Cyp26a1 T C 19: 37,698,812 L149P probably damaging Het
D630045J12Rik T G 6: 38,194,635 E866A probably benign Het
Dlec1 C T 9: 119,112,422 P292L probably benign Het
Dpp3 T G 19: 4,916,789 E402A possibly damaging Het
Epha5 T C 5: 84,416,462 Q15R possibly damaging Het
Esyt3 A G 9: 99,315,285 F831L probably benign Het
Fam50b G A 13: 34,747,101 E187K possibly damaging Het
Fut7 A G 2: 25,425,780 D350G probably benign Het
Gab1 C A 8: 80,784,817 E466D probably damaging Het
Glrp1 A T 1: 88,503,168 M160K unknown Het
Gngt1 T C 6: 3,994,088 probably null Het
Gprc6a A T 10: 51,631,412 V7E possibly damaging Het
Idh3b A T 2: 130,280,966 V301D probably damaging Het
Ifi202b A C 1: 173,963,958 C385G probably benign Het
Ilvbl T A 10: 78,579,086 L261Q probably damaging Het
Irx6 T A 8: 92,678,734 L410Q probably damaging Het
Ism2 T C 12: 87,299,663 M15V unknown Het
Itih5 C A 2: 10,190,327 R177S probably damaging Het
Klra3 C T 6: 130,327,124 G202R probably damaging Het
Krt7 T C 15: 101,413,970 V103A probably damaging Het
Lama3 T C 18: 12,528,418 S2145P probably damaging Het
Mlph A G 1: 90,941,706 R477G probably damaging Het
Mybpc1 T A 10: 88,543,719 L653F probably damaging Het
Myrfl A G 10: 116,781,947 probably null Het
Myrip T G 9: 120,422,507 L232R probably damaging Het
Nrd1 A T 4: 109,028,802 H126L probably benign Het
Olfr251 T A 9: 38,378,802 L307Q possibly damaging Het
Olfr469 G T 7: 107,823,158 L104I probably benign Het
Olfr722 A T 14: 49,895,667 I45N probably damaging Het
Pcdhb10 T A 18: 37,413,003 N377K probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,499,669 probably null Het
Prkdc A C 16: 15,769,966 I2572L probably benign Het
Ptpro C A 6: 137,380,478 D322E probably benign Het
R3hcc1 A G 14: 69,704,125 I332T probably damaging Het
Rab8a T C 8: 72,161,383 F9L probably damaging Het
Ranbp3l A T 15: 9,057,160 K165N probably damaging Het
Rock2 T A 12: 16,977,740 C1353S probably damaging Het
Rsad2 T A 12: 26,456,419 M1L possibly damaging Het
Vmn1r104 A G 7: 20,534,566 M244V probably benign Het
Vmn1r232 G A 17: 20,913,285 T351M possibly damaging Het
Vmn2r50 A G 7: 10,050,245 Y101H probably benign Het
Vmn2r57 A G 7: 41,428,665 L123P probably damaging Het
Wdr17 T C 8: 54,681,453 N331D probably damaging Het
Wdr47 C T 3: 108,614,355 Q89* probably null Het
Zcchc4 A T 5: 52,784,033 T57S probably benign Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ccdc102a APN 8 94911638 unclassified probably null
IGL01921:Ccdc102a APN 8 94913391 missense probably damaging 1.00
IGL02961:Ccdc102a APN 8 94903350 missense possibly damaging 0.95
R0413:Ccdc102a UTSW 8 94903286 missense probably benign 0.23
R0423:Ccdc102a UTSW 8 94905926 splice site probably benign
R0437:Ccdc102a UTSW 8 94913426 missense probably damaging 1.00
R1468:Ccdc102a UTSW 8 94906086 missense probably benign 0.06
R1468:Ccdc102a UTSW 8 94906086 missense probably benign 0.06
R1540:Ccdc102a UTSW 8 94907713 critical splice donor site probably null
R1893:Ccdc102a UTSW 8 94913543 missense probably damaging 1.00
R2317:Ccdc102a UTSW 8 94908329 missense probably null 1.00
R4280:Ccdc102a UTSW 8 94907816 nonsense probably null
R6115:Ccdc102a UTSW 8 94903371 missense probably benign
R6331:Ccdc102a UTSW 8 94911516 missense probably benign
R6650:Ccdc102a UTSW 8 94913264 missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- GGAACTACTATGGCTGAGTGTG -3'
(R):5'- GCATACCTCTGACGACAGTTGG -3'

Sequencing Primer
(F):5'- GCTGAGTGTGTGAATTCTATCCTAAC -3'
(R):5'- CAGAGGATGACATAGGTTCTTCC -3'
Posted On2019-05-13