Incidental Mutation 'IGL00339:Oaf'
ID 4903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oaf
Ensembl Gene ENSMUSG00000032014
Gene Name out at first homolog
Synonyms D130038B21Rik, D9Ucla1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00339
Quality Score
Status
Chromosome 9
Chromosomal Location 43132575-43151113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43135313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 155 (D155G)
Ref Sequence ENSEMBL: ENSMUSP00000034512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034512]
AlphaFold Q8QZR4
Predicted Effect probably damaging
Transcript: ENSMUST00000034512
AA Change: D155G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034512
Gene: ENSMUSG00000032014
AA Change: D155G

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:OAF 42 280 1.7e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213286
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215387
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,213,893 (GRCm39) M707V probably benign Het
Amz2 A T 11: 109,324,847 (GRCm39) I244F probably damaging Het
Atp4a T C 7: 30,412,629 (GRCm39) C112R possibly damaging Het
Axin2 A G 11: 108,814,816 (GRCm39) T235A probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brd8 C A 18: 34,742,936 (GRCm39) G310* probably null Het
Capn11 A T 17: 45,954,693 (GRCm39) I148N probably damaging Het
Caskin2 A G 11: 115,694,425 (GRCm39) L392P probably benign Het
Cep72 C T 13: 74,210,387 (GRCm39) probably benign Het
Chst11 A G 10: 83,027,467 (GRCm39) Y298C possibly damaging Het
Cyp21a1 C T 17: 35,023,108 (GRCm39) probably null Het
F830045P16Rik T C 2: 129,302,449 (GRCm39) D381G probably damaging Het
Fnip2 T G 3: 79,422,462 (GRCm39) H106P probably benign Het
Fosl1 T A 19: 5,500,330 (GRCm39) I83K probably damaging Het
Foxk2 C T 11: 121,190,560 (GRCm39) T567M probably damaging Het
Frmd4a A G 2: 4,599,525 (GRCm39) N208S probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Heatr5a A T 12: 51,935,684 (GRCm39) I1634N probably damaging Het
Hspg2 C T 4: 137,266,506 (GRCm39) T1889M probably damaging Het
Kcnh6 C T 11: 105,909,845 (GRCm39) P457S probably damaging Het
Kcnk18 G T 19: 59,223,502 (GRCm39) A216S probably benign Het
Klhl42 A G 6: 147,003,231 (GRCm39) Y335C probably damaging Het
Lrguk C T 6: 34,020,364 (GRCm39) P36L probably damaging Het
Mmp1b T A 9: 7,368,304 (GRCm39) R443S probably benign Het
Ncapd3 T C 9: 26,963,649 (GRCm39) S501P probably benign Het
Neurl4 C T 11: 69,795,413 (GRCm39) R422W probably damaging Het
Nol4 T C 18: 22,956,469 (GRCm39) S311G probably benign Het
Oas1g T A 5: 121,024,109 (GRCm39) K67* probably null Het
Or1l4 T C 2: 37,091,609 (GRCm39) S119P probably damaging Het
Or2a20 T G 6: 43,194,782 (GRCm39) L312V probably benign Het
Rims2 C A 15: 39,323,011 (GRCm39) T735K probably benign Het
Sema4f T C 6: 82,914,155 (GRCm39) T68A probably benign Het
Snx19 T G 9: 30,340,380 (GRCm39) V506G possibly damaging Het
Sp140 T A 1: 85,569,543 (GRCm39) C107* probably null Het
Sspo G A 6: 48,460,680 (GRCm39) probably benign Het
Syce1l T G 8: 114,376,134 (GRCm39) L28R probably damaging Het
Tgm3 G A 2: 129,880,333 (GRCm39) V380M probably damaging Het
Unc5a T A 13: 55,143,628 (GRCm39) V104D possibly damaging Het
Other mutations in Oaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Oaf APN 9 43,135,301 (GRCm39) missense probably damaging 1.00
IGL02218:Oaf APN 9 43,136,219 (GRCm39) missense probably benign 0.03
R1544:Oaf UTSW 9 43,133,930 (GRCm39) missense probably damaging 1.00
R1636:Oaf UTSW 9 43,150,621 (GRCm39) missense probably benign 0.00
R3870:Oaf UTSW 9 43,134,055 (GRCm39) missense probably benign 0.40
R5795:Oaf UTSW 9 43,135,241 (GRCm39) missense probably damaging 0.99
R6307:Oaf UTSW 9 43,136,216 (GRCm39) missense possibly damaging 0.79
R7524:Oaf UTSW 9 43,134,077 (GRCm39) missense probably damaging 1.00
R7843:Oaf UTSW 9 43,134,077 (GRCm39) missense probably damaging 1.00
R7846:Oaf UTSW 9 43,134,077 (GRCm39) missense probably damaging 1.00
R7848:Oaf UTSW 9 43,134,077 (GRCm39) missense probably damaging 1.00
R7849:Oaf UTSW 9 43,134,077 (GRCm39) missense probably damaging 1.00
R7889:Oaf UTSW 9 43,133,968 (GRCm39) missense possibly damaging 0.79
R8238:Oaf UTSW 9 43,150,642 (GRCm39) missense probably damaging 1.00
R9043:Oaf UTSW 9 43,135,308 (GRCm39) missense probably damaging 1.00
R9044:Oaf UTSW 9 43,135,308 (GRCm39) missense probably damaging 1.00
R9154:Oaf UTSW 9 43,133,992 (GRCm39) missense probably damaging 1.00
R9273:Oaf UTSW 9 43,133,966 (GRCm39) missense probably benign 0.05
Posted On 2012-04-20