Incidental Mutation 'IGL02878:Opalin'
ID362713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Opalin
Ensembl Gene ENSMUSG00000050121
Gene Nameoligodendrocytic myelin paranodal and inner loop protein
SynonymsTmem10, Tmp10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02878
Quality Score
Status
Chromosome19
Chromosomal Location41062474-41077113 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 41067669 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 62 (D62E)
Ref Sequence ENSEMBL: ENSMUSP00000084422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087176]
Predicted Effect probably benign
Transcript: ENSMUST00000087176
AA Change: D62E

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121
AA Change: D62E

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
transmembrane domain 31 53 N/A INTRINSIC
low complexity region 122 136 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,138,329 D801G probably benign Het
Abce1 T C 8: 79,703,007 H95R possibly damaging Het
Axl T A 7: 25,758,877 M818L probably damaging Het
Cckbr C T 7: 105,434,031 A147V probably damaging Het
Cdc40 T C 10: 40,843,122 D337G probably damaging Het
Cep70 T C 9: 99,281,107 probably benign Het
Cpeb1 C T 7: 81,357,326 V318I probably damaging Het
Crlf1 G A 8: 70,503,640 probably null Het
Dnah6 A T 6: 73,032,587 D3740E probably benign Het
Dnajc28 C T 16: 91,616,441 R329Q possibly damaging Het
Ehmt2 T C 17: 34,910,767 Y946H probably damaging Het
Gapdhs C T 7: 30,729,879 probably benign Het
Gpr61 A T 3: 108,150,028 L439H probably damaging Het
Klf9 G T 19: 23,142,269 probably benign Het
Krt73 T C 15: 101,798,826 Y309C probably damaging Het
Lrrk1 T C 7: 66,262,563 M1750V probably benign Het
Mc1r G T 8: 123,407,630 G41C probably damaging Het
Mecr C A 4: 131,854,708 A133E probably damaging Het
Mon2 T C 10: 123,006,991 N1511S probably benign Het
Mrpl13 A T 15: 55,540,199 L106* probably null Het
Mrpl48 A T 7: 100,574,513 V1E possibly damaging Het
Myo1c T A 11: 75,669,033 W683R possibly damaging Het
Myo9a G A 9: 59,908,300 probably null Het
Myrfl A T 10: 116,777,405 I831K possibly damaging Het
Neurl4 T A 11: 69,906,831 Y671N probably damaging Het
Olfr347 A T 2: 36,734,477 D52V probably damaging Het
Olfr57 G T 10: 79,035,558 C254F probably benign Het
Otoa T C 7: 121,143,853 F768L probably damaging Het
Pde4b T A 4: 102,601,639 N497K probably damaging Het
Plcl2 T A 17: 50,607,355 L464Q probably damaging Het
Rfc3 A G 5: 151,642,914 *357R probably null Het
Ryr2 A G 13: 11,918,319 S89P probably benign Het
Sema3b C T 9: 107,600,993 V398I probably damaging Het
Setd3 A G 12: 108,108,555 probably null Het
Sgsh T C 11: 119,346,558 D410G probably damaging Het
Slc9a3 G T 13: 74,165,357 E730* probably null Het
Sptb A G 12: 76,620,753 S857P probably benign Het
Tmem132c T C 5: 127,563,090 L775P probably damaging Het
Togaram1 T C 12: 64,992,626 V1158A possibly damaging Het
Ttn A G 2: 76,776,878 F17934L probably damaging Het
Ube3b T C 5: 114,404,717 probably null Het
Ydjc A G 16: 17,147,605 E111G possibly damaging Het
Zp3r T A 1: 130,582,851 H443L probably benign Het
Other mutations in Opalin
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01694:Opalin APN 19 41063800 unclassified probably benign
IGL02025:Opalin APN 19 41072235 splice site probably benign
IGL02282:Opalin APN 19 41066504 missense probably benign 0.40
BB002:Opalin UTSW 19 41063803 makesense probably null
BB012:Opalin UTSW 19 41063803 makesense probably null
R0881:Opalin UTSW 19 41063981 critical splice acceptor site probably null
R1781:Opalin UTSW 19 41067631 splice site probably null
R4579:Opalin UTSW 19 41067757 missense probably damaging 0.98
R5455:Opalin UTSW 19 41069953 missense probably benign 0.20
R5470:Opalin UTSW 19 41066531 missense probably benign 0.34
R7161:Opalin UTSW 19 41069935 missense possibly damaging 0.50
R7925:Opalin UTSW 19 41063803 makesense probably null
Posted On2015-12-18