Incidental Mutation 'IGL01467:Cpne3'
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ID88142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpne3
Ensembl Gene ENSMUSG00000028228
Gene Namecopine III
Synonyms5730450C07Rik, 5430428M23Rik, PRO1071, CPN3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL01467
Quality Score
Status
Chromosome4
Chromosomal Location19519254-19570108 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 19553737 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 98 (C98F)
Ref Sequence ENSEMBL: ENSMUSP00000029885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029885]
Predicted Effect probably benign
Transcript: ENSMUST00000029885
AA Change: C98F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: C98F

DomainStartEndE-ValueType
C2 7 114 1.06e-10 SMART
C2 139 245 9.53e-13 SMART
low complexity region 253 262 N/A INTRINSIC
VWA 289 495 7.54e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000108254
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Cpne3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Cpne3 APN 4 19543318 missense probably damaging 1.00
IGL01325:Cpne3 APN 4 19535229 missense probably benign 0.00
IGL02043:Cpne3 APN 4 19543340 splice site probably null
IGL02992:Cpne3 APN 4 19532486 missense probably benign
IGL03330:Cpne3 APN 4 19553774 missense possibly damaging 0.63
LCD18:Cpne3 UTSW 4 19563382 intron probably benign
R0507:Cpne3 UTSW 4 19532544 splice site probably benign
R0652:Cpne3 UTSW 4 19532486 missense probably benign
R1499:Cpne3 UTSW 4 19526336 missense probably damaging 1.00
R1881:Cpne3 UTSW 4 19535266 missense probably benign 0.03
R2007:Cpne3 UTSW 4 19553833 missense probably damaging 1.00
R2147:Cpne3 UTSW 4 19536562 missense probably benign
R2507:Cpne3 UTSW 4 19553871 missense probably damaging 1.00
R4525:Cpne3 UTSW 4 19523206 missense probably damaging 1.00
R4880:Cpne3 UTSW 4 19540827 missense probably benign
R5219:Cpne3 UTSW 4 19526366 missense probably damaging 1.00
R5518:Cpne3 UTSW 4 19553779 missense probably benign 0.10
R5883:Cpne3 UTSW 4 19552314 missense possibly damaging 0.67
R6850:Cpne3 UTSW 4 19535231 missense possibly damaging 0.91
R6979:Cpne3 UTSW 4 19533098 missense probably benign 0.01
R7395:Cpne3 UTSW 4 19528239 missense probably damaging 0.96
R7948:Cpne3 UTSW 4 19528186 critical splice donor site probably null
R8002:Cpne3 UTSW 4 19528232 missense probably damaging 0.99
R8056:Cpne3 UTSW 4 19532426 missense possibly damaging 0.60
Posted On2013-11-18