Incidental Mutation 'IGL01517:Cylc1'
ID90435
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cylc1
Ensembl Gene ENSMUSG00000073001
Gene Namecylicin, basic protein of sperm head cytoskeleton 1
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01517
Quality Score
Status
ChromosomeX
Chromosomal Location111110418-111125854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111119030 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 29 (T29A)
Ref Sequence ENSEMBL: ENSMUSP00000147334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101282] [ENSMUST00000210720]
Predicted Effect possibly damaging
Transcript: ENSMUST00000101282
AA Change: T29A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098840
Gene: ENSMUSG00000073001
AA Change: T29A

DomainStartEndE-ValueType
Pfam:Cylicin_N 26 131 2.8e-42 PFAM
low complexity region 307 330 N/A INTRINSIC
low complexity region 334 371 N/A INTRINSIC
low complexity region 376 398 N/A INTRINSIC
low complexity region 402 420 N/A INTRINSIC
low complexity region 421 450 N/A INTRINSIC
low complexity region 467 491 N/A INTRINSIC
low complexity region 513 523 N/A INTRINSIC
low complexity region 532 542 N/A INTRINSIC
low complexity region 549 562 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000210720
AA Change: T29A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 A T 13: 104,390,192 probably benign Het
Arpc1b A G 5: 145,127,869 probably benign Het
Ccdc54 G A 16: 50,589,917 L329F possibly damaging Het
Cdc42bpg G A 19: 6,318,437 R1055H probably damaging Het
Ddx50 T C 10: 62,647,132 T53A probably benign Het
Dmap1 G A 4: 117,676,009 R283C probably damaging Het
Extl3 A T 14: 65,076,707 L342H probably damaging Het
Gjb3 A C 4: 127,326,121 I206S probably damaging Het
Gphn T A 12: 78,376,374 I53K probably damaging Het
Gpr22 C T 12: 31,708,710 probably benign Het
Inpp5b T A 4: 124,782,436 C362S probably benign Het
Iqgap3 C A 3: 88,109,396 Q1062K probably benign Het
Kdm2a A G 19: 4,362,061 probably benign Het
Ltbp3 A G 19: 5,757,732 D1167G possibly damaging Het
Mpo A G 11: 87,795,821 N65D possibly damaging Het
Mrpl2 A G 17: 46,649,983 R268G probably damaging Het
Nfkbia C T 12: 55,490,645 A220T probably damaging Het
Nlrc3 T A 16: 3,947,487 I1091F probably damaging Het
Notch2 T A 3: 98,138,655 S1674R probably benign Het
Olfr298 T C 7: 86,489,557 probably benign Het
Olfr63 T A 17: 33,269,655 N310K probably benign Het
Pde8b A G 13: 95,100,887 probably null Het
Pla2r1 A G 2: 60,504,253 Y392H probably damaging Het
Plekhm1 A T 11: 103,394,783 N275K possibly damaging Het
Prdm16 T C 4: 154,328,425 H1041R probably damaging Het
Rapsn C A 2: 91,036,618 N88K probably damaging Het
Rasef T A 4: 73,769,822 Q31H probably benign Het
Rpl28-ps4 T C 6: 117,213,852 noncoding transcript Het
Trpc7 T C 13: 56,861,065 Y263C probably damaging Het
Ttn T C 2: 76,747,596 T24318A probably damaging Het
Vmn1r35 T C 6: 66,679,450 T79A probably benign Het
Vmn2r100 T A 17: 19,521,963 S200T probably benign Het
Wnt9b A G 11: 103,731,081 V250A probably benign Het
Zyg11a T A 4: 108,201,194 K383M probably null Het
Other mutations in Cylc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01473:Cylc1 APN X 111122680 missense unknown
IGL01656:Cylc1 APN X 111123716 missense probably benign 0.35
IGL02944:Cylc1 APN X 111123604 missense possibly damaging 0.91
IGL03029:Cylc1 APN X 111113338 splice site probably benign
IGL03057:Cylc1 APN X 111122601 missense unknown
R2060:Cylc1 UTSW X 111123123 missense unknown
Z1176:Cylc1 UTSW X 111123146 missense unknown
Z1177:Cylc1 UTSW X 111122279 missense probably benign 0.03
Posted On2013-12-09