Incidental Mutation 'IGL02819:Cpne9'
ID360931
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne9
Ensembl Gene ENSMUSG00000030270
Gene Namecopine family member IX
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.305) question?
Stock #IGL02819
Quality Score
Status
Chromosome6
Chromosomal Location113282307-113305627 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 113300663 bp
ZygosityHeterozygous
Amino Acid Change Serine to Cysteine at position 448 (S448C)
Ref Sequence ENSEMBL: ENSMUSP00000044416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000130191]
Predicted Effect probably damaging
Transcript: ENSMUST00000041203
AA Change: S448C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: S448C

DomainStartEndE-ValueType
C2 14 122 2.12e-10 SMART
C2 143 257 5.15e-9 SMART
VWA 297 495 4.4e-10 SMART
low complexity region 536 553 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000130191
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203569
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,564,220 probably benign Het
Abcb8 T A 5: 24,406,424 N470K probably benign Het
Adamtsl3 A T 7: 82,574,121 N1037Y probably damaging Het
Adcy3 T C 12: 4,206,986 probably benign Het
Ankrd35 A G 3: 96,690,208 D983G possibly damaging Het
Asf1a A G 10: 53,607,824 T118A probably benign Het
Atp2a3 T C 11: 72,977,207 Y389H probably damaging Het
Atp5b T C 10: 128,083,952 I63T probably damaging Het
C2cd5 A G 6: 143,083,220 Y98H probably benign Het
Caprin2 A G 6: 148,848,258 V518A probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Clcn2 C A 16: 20,709,256 E487* probably null Het
Cog6 T A 3: 53,009,545 K184M probably damaging Het
Cpn1 A G 19: 43,968,468 Y286H probably damaging Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Cys1 T C 12: 24,667,170 E132G possibly damaging Het
Depdc7 T C 2: 104,724,726 M280V probably benign Het
Fhad1 C T 4: 141,918,758 D298N probably benign Het
Golga1 T A 2: 39,039,078 N318Y probably null Het
Hsd3b6 A G 3: 98,810,946 V34A probably benign Het
Krt9 A G 11: 100,191,520 I193T probably damaging Het
Lama4 A T 10: 39,026,569 I180F possibly damaging Het
Lamc1 T C 1: 153,250,661 T458A probably damaging Het
Lin28b A T 10: 45,470,059 M1K probably null Het
Myo16 T C 8: 10,322,600 C100R probably damaging Het
Nt5c3 A T 6: 56,883,733 M279K probably damaging Het
Ppfia2 A G 10: 106,906,394 Y1016C probably damaging Het
Rpl6 A G 5: 121,207,201 probably benign Het
Rpn2 G T 2: 157,316,210 probably null Het
Rspry1 T C 8: 94,654,256 V396A probably benign Het
Serpina3i C T 12: 104,268,502 T364I probably damaging Het
Shprh A G 10: 11,154,765 K242R possibly damaging Het
Slit3 A G 11: 35,171,590 N72S possibly damaging Het
Syt17 G A 7: 118,409,920 probably benign Het
Tatdn3 C A 1: 191,055,344 A114S probably benign Het
Tjp2 A G 19: 24,114,105 V564A probably damaging Het
Tmem117 T C 15: 94,879,372 probably benign Het
Tnfrsf8 T C 4: 145,269,133 E452G probably damaging Het
Tns1 T C 1: 73,937,248 D1147G probably damaging Het
Traf6 T C 2: 101,684,789 S97P probably damaging Het
Ttc28 A T 5: 111,266,583 E1321D probably benign Het
Other mutations in Cpne9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Cpne9 APN 6 113293022 missense possibly damaging 0.54
IGL02318:Cpne9 APN 6 113293738 missense possibly damaging 0.74
IGL02800:Cpne9 APN 6 113302073 missense probably benign 0.40
IGL03111:Cpne9 APN 6 113300610 missense possibly damaging 0.79
PIT4366001:Cpne9 UTSW 6 113294746 missense probably damaging 1.00
R0145:Cpne9 UTSW 6 113300601 missense probably damaging 0.97
R0319:Cpne9 UTSW 6 113294693 missense probably damaging 1.00
R0514:Cpne9 UTSW 6 113290013 missense probably damaging 0.98
R0586:Cpne9 UTSW 6 113295063 missense probably damaging 0.96
R0594:Cpne9 UTSW 6 113290400 splice site probably benign
R1464:Cpne9 UTSW 6 113294737 missense probably damaging 1.00
R1464:Cpne9 UTSW 6 113294737 missense probably damaging 1.00
R4184:Cpne9 UTSW 6 113282457 unclassified probably benign
R4243:Cpne9 UTSW 6 113283023 unclassified probably benign
R4256:Cpne9 UTSW 6 113283023 unclassified probably benign
R4258:Cpne9 UTSW 6 113283023 unclassified probably benign
R4412:Cpne9 UTSW 6 113290001 missense possibly damaging 0.78
R4690:Cpne9 UTSW 6 113302055 missense probably damaging 1.00
R5062:Cpne9 UTSW 6 113304488 missense probably damaging 0.99
R5249:Cpne9 UTSW 6 113293073 splice site probably benign
R5437:Cpne9 UTSW 6 113304630 unclassified probably benign
R5523:Cpne9 UTSW 6 113290231 missense probably damaging 1.00
R5979:Cpne9 UTSW 6 113293749 missense probably benign 0.44
R6207:Cpne9 UTSW 6 113294773 missense possibly damaging 0.88
R6849:Cpne9 UTSW 6 113302118 missense probably damaging 0.98
R6989:Cpne9 UTSW 6 113300583 missense possibly damaging 0.95
R7376:Cpne9 UTSW 6 113290013 missense probably damaging 0.98
R7524:Cpne9 UTSW 6 113302064 missense probably damaging 1.00
Posted On2015-12-18