Incidental Mutation 'IGL03111:Cpne9'
ID419207
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 #IGL03111
Quality Score
Status
Chromosome6
Chromosomal Location113282307-113305627 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113300610 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 430 (I430T)
Ref Sequence ENSEMBL: ENSMUSP00000044416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000130191]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041203
AA Change: I430T

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: I430T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,726,040 D523G probably benign Het
Alkbh1 A C 12: 87,434,137 H176Q probably damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arid4a G A 12: 71,039,966 A193T probably damaging Het
Cdkal1 A G 13: 29,354,701 S492P possibly damaging Het
Cep170b C T 12: 112,735,179 T164I probably damaging Het
Chst1 T C 2: 92,613,347 Y55H possibly damaging Het
Clybl C T 14: 122,401,983 P320S probably damaging Het
Cyc1 T G 15: 76,344,872 S113A probably benign Het
Cyp4b1 C T 4: 115,635,869 probably benign Het
Dpysl3 T C 18: 43,329,845 D489G probably damaging Het
Epha3 T C 16: 63,653,446 D15G probably damaging Het
Ephb4 C A 5: 137,372,505 F933L probably benign Het
Fan1 A T 7: 64,350,068 D856E possibly damaging Het
Gabra6 T A 11: 42,317,017 D208V probably damaging Het
Kif3b T A 2: 153,330,068 S719R probably benign Het
Ldhd A C 8: 111,627,165 C439G probably damaging Het
Lipo3 C T 19: 33,582,237 V78I probably damaging Het
Mterf2 A T 10: 85,119,922 Y279* probably null Het
Myo9a G T 9: 59,827,243 A703S probably benign Het
Ndst3 T A 3: 123,672,096 T76S possibly damaging Het
Nlrp4f A T 13: 65,183,002 L859Q probably damaging Het
Nlrp4g T A 9: 124,353,978 noncoding transcript Het
Olfr1496 T A 19: 13,780,979 Y122* probably null Het
Olfr577 G A 7: 102,973,531 R154C probably damaging Het
Olfr811 G A 10: 129,802,078 T149I probably benign Het
Osgin1 A T 8: 119,443,049 K113M probably damaging Het
Plcb4 T A 2: 135,976,282 Y823N probably damaging Het
Prg4 T C 1: 150,451,902 I856V probably benign Het
Pxdn T A 12: 29,982,756 S180T probably damaging Het
Skint9 T A 4: 112,391,724 N169I probably benign Het
Slc24a1 T C 9: 64,926,326 T996A probably damaging Het
Tbc1d20 T C 2: 152,308,078 Y91H probably damaging Het
Tbc1d9b A G 11: 50,158,542 Y772C probably damaging Het
Thbd T A 2: 148,406,472 E492V probably benign Het
Thra A G 11: 98,761,029 probably benign Het
Tmem131 A G 1: 36,828,144 S403P probably damaging Het
Zfp455 T C 13: 67,207,999 S444P probably benign Het
Zfp946 A G 17: 22,454,556 H97R possibly damaging 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
IGL02819:Cpne9 APN 6 113300663 missense probably damaging 0.99
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 On2016-08-02