Incidental Mutation 'IGL01921:Ccdc102a'
ID180105
Institutional Source Australian Phenomics Network (link to record)
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: 0.087) question?
Stock #IGL01921
Quality Score
Status
Chromosome8
Chromosomal Location94902869-94918098 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 94913391 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 92 (T92A)
Ref Sequence ENSEMBL: ENSMUSP00000077107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077955] [ENSMUST00000162020]
Predicted Effect probably damaging
Transcript: ENSMUST00000077955
AA Change: T92A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077107
Gene: ENSMUSG00000063605
AA Change: T92A

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
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mat1a T C 14: 41,114,335 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Ccdc102a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Ccdc102a APN 8 94911638 splice site probably null
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
R7019:Ccdc102a UTSW 8 94909803 missense probably benign 0.42
R7302:Ccdc102a UTSW 8 94913438 missense probably damaging 1.00
R7402:Ccdc102a UTSW 8 94903353 missense probably damaging 1.00
R7949:Ccdc102a UTSW 8 94905285 missense probably damaging 1.00
R7995:Ccdc102a UTSW 8 94907867 missense probably damaging 0.99
R8166:Ccdc102a UTSW 8 94913316 missense possibly damaging 0.86
Posted On2014-05-07