Incidental Mutation 'IGL00476:Cylc2'
ID332174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cylc2
Ensembl Gene ENSMUSG00000039555
Gene Namecylicin, basic protein of sperm head cytoskeleton 2
Synonyms4930488P18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL00476
Quality Score
Status
Chromosome4
Chromosomal Location51216678-51230272 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51228157 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 76 (M76T)
Ref Sequence ENSEMBL: ENSMUSP00000125758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041392] [ENSMUST00000166749]
Predicted Effect probably damaging
Transcript: ENSMUST00000041392
AA Change: M76T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039750
Gene: ENSMUSG00000039555
AA Change: M76T

DomainStartEndE-ValueType
Pfam:Cylicin_N 7 115 1.1e-43 PFAM
low complexity region 122 131 N/A INTRINSIC
low complexity region 174 220 N/A INTRINSIC
low complexity region 224 245 N/A INTRINSIC
low complexity region 249 272 N/A INTRINSIC
low complexity region 278 300 N/A INTRINSIC
low complexity region 312 329 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156384
Predicted Effect probably damaging
Transcript: ENSMUST00000166749
AA Change: M76T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125758
Gene: ENSMUSG00000039555
AA Change: M76T

DomainStartEndE-ValueType
Pfam:Cylicin_N 8 113 4.6e-46 PFAM
low complexity region 122 131 N/A INTRINSIC
low complexity region 174 220 N/A INTRINSIC
low complexity region 224 245 N/A INTRINSIC
low complexity region 249 272 N/A INTRINSIC
low complexity region 278 300 N/A INTRINSIC
low complexity region 312 329 N/A INTRINSIC
low complexity region 338 420 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik A C X: 107,816,160 probably benign Het
4931414P19Rik T C 14: 54,595,578 T47A possibly damaging Het
Adgrv1 A G 13: 81,489,074 F3416S probably damaging Het
Arhgap42 T C 9: 9,006,343 D684G probably damaging Het
Atp13a1 T C 8: 69,796,897 L270P probably damaging Het
Baz2b T C 2: 59,913,739 N1474S probably benign Het
Chrna6 A G 8: 27,406,532 I439T probably damaging Het
Ddx19a T C 8: 110,976,470 K445R probably benign Het
Dennd4a A T 9: 64,911,762 Y1733F probably damaging Het
Dopey2 G A 16: 93,800,026 probably benign Het
Dpcr1 G T 17: 35,638,102 H202N possibly damaging Het
Ephb3 T A 16: 21,220,415 probably null Het
Gpc2 G A 5: 138,274,309 probably benign Het
Ift172 A G 5: 31,275,896 Y550H probably damaging Het
Kat2a G A 11: 100,705,384 R782W probably damaging Het
Ldhd G T 8: 111,628,638 R238S possibly damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep T G 14: 60,827,361 L388R probably damaging Het
Naa35 A G 13: 59,630,055 D610G probably damaging Het
Nae1 A T 8: 104,526,381 L137Q possibly damaging Het
Nt5dc3 T C 10: 86,833,974 probably null Het
Nyx T C X: 13,487,025 F373L possibly damaging Het
Scaf11 A T 15: 96,418,580 D1034E possibly damaging Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Taar7a A T 10: 23,992,396 probably benign Het
Tcf23 G T 5: 30,973,525 C169F probably benign Het
Trim7 A T 11: 48,848,078 N308I probably benign Het
Ubxn8 T C 8: 33,635,305 E89G probably benign Het
Other mutations in Cylc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Cylc2 APN 4 51228360 missense probably benign 0.01
IGL02662:Cylc2 APN 4 51216698 utr 5 prime probably benign
R0277:Cylc2 UTSW 4 51228477 missense unknown
R0323:Cylc2 UTSW 4 51228477 missense unknown
R0968:Cylc2 UTSW 4 51216706 start codon destroyed probably null 0.50
R1395:Cylc2 UTSW 4 51228366 missense possibly damaging 0.53
R1639:Cylc2 UTSW 4 51228310 missense probably benign 0.23
R1643:Cylc2 UTSW 4 51225173 missense probably benign 0.38
R2829:Cylc2 UTSW 4 51229798 missense unknown
R4464:Cylc2 UTSW 4 51229651 missense unknown
R4467:Cylc2 UTSW 4 51229651 missense unknown
R4496:Cylc2 UTSW 4 51229651 missense unknown
R4505:Cylc2 UTSW 4 51229651 missense unknown
R4514:Cylc2 UTSW 4 51229651 missense unknown
R4546:Cylc2 UTSW 4 51229651 missense unknown
R4546:Cylc2 UTSW 4 51229840 missense unknown
R4654:Cylc2 UTSW 4 51228279 missense probably benign 0.00
R4949:Cylc2 UTSW 4 51229804 missense unknown
R5141:Cylc2 UTSW 4 51228587 intron probably benign
R5176:Cylc2 UTSW 4 51228587 intron probably benign
R5177:Cylc2 UTSW 4 51228587 intron probably benign
R5179:Cylc2 UTSW 4 51228587 intron probably benign
R7469:Cylc2 UTSW 4 51227970 intron probably null
R7508:Cylc2 UTSW 4 51229256 splice site probably null
Posted On2015-08-05