Incidental Mutation 'IGL01373:Aff2'
ID84088
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aff2
Ensembl Gene ENSMUSG00000031189
Gene NameAF4/FMR2 family, member 2
SynonymsFmr2, Oxh, Ox19
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.278) question?
Stock #IGL01373
Quality Score
Status
ChromosomeX
Chromosomal Location69360294-69868037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 69867729 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1239 (D1239E)
Ref Sequence ENSEMBL: ENSMUSP00000033532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033532]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033532
AA Change: D1239E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033532
Gene: ENSMUSG00000031189
AA Change: D1239E

DomainStartEndE-ValueType
Pfam:AF-4 18 372 2.3e-108 PFAM
Pfam:AF-4 363 1269 3.4e-265 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151662
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired conditioned fear responses and enhanced long-term potentiation in hippocampal slices. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Plekhf1 T C 7: 38,221,797 T116A probably benign Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Aff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00670:Aff2 APN X 69544593 missense possibly damaging 0.61
IGL02253:Aff2 APN X 69830791 missense probably benign 0.00
IGL02614:Aff2 APN X 69864087 missense possibly damaging 0.92
IGL03116:Aff2 APN X 69834486 missense probably benign 0.23
IGL03184:Aff2 APN X 69767234 missense possibly damaging 0.82
H8562:Aff2 UTSW X 69848926 missense unknown
LCD18:Aff2 UTSW X 69747535 intron probably benign
R0190:Aff2 UTSW X 69849105 frame shift probably null
R0481:Aff2 UTSW X 69834642 missense probably damaging 1.00
R0554:Aff2 UTSW X 69864074 missense possibly damaging 0.85
R2253:Aff2 UTSW X 69834803 missense possibly damaging 0.84
R3236:Aff2 UTSW X 69863937 missense possibly damaging 0.93
R3237:Aff2 UTSW X 69863937 missense possibly damaging 0.93
Posted On2013-11-11