Incidental Mutation 'R3870:Oaf'
ID 276514
Institutional Source Beutler Lab
Gene Symbol Oaf
Ensembl Gene ENSMUSG00000032014
Gene Name out at first homolog
Synonyms D130038B21Rik, D9Ucla1
MMRRC Submission 040789-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3870 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 43132575-43151113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43134055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 222 (R222Q)
Ref Sequence ENSEMBL: ENSMUSP00000034512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034512]
AlphaFold Q8QZR4
Predicted Effect probably benign
Transcript: ENSMUST00000034512
AA Change: R222Q

PolyPhen 2 Score 0.397 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000034512
Gene: ENSMUSG00000032014
AA Change: R222Q

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:OAF 42 280 1.7e-108 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000213286
AA Change: R60Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215387
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 90% (61/68)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028J19Rik T A 7: 43,880,828 (GRCm39) probably null Het
Adam22 C A 5: 8,182,418 (GRCm39) C514F probably damaging Het
Akap8 G A 17: 32,536,813 (GRCm39) probably benign Het
Armcx2 A T X: 133,707,048 (GRCm39) V195E probably benign Het
Atg7 T C 6: 114,674,008 (GRCm39) S301P possibly damaging Het
Cc2d2a C A 5: 43,876,033 (GRCm39) Y1003* probably null Het
Ccdc93 A G 1: 121,390,843 (GRCm39) S272G probably benign Het
Ces1d C G 8: 93,901,714 (GRCm39) L418F probably benign Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Cplane1 A T 15: 8,247,948 (GRCm39) K1499M probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Ehd4 T A 2: 119,967,434 (GRCm39) D120V probably damaging Het
Eif4g3 T A 4: 137,824,211 (GRCm39) V71E probably damaging Het
Exoc5 A G 14: 49,256,853 (GRCm39) probably benign Het
Glud1 T A 14: 34,047,537 (GRCm39) probably benign Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm11555 G T 11: 99,540,816 (GRCm39) C64* probably null Het
Gm5468 A G 15: 25,414,561 (GRCm39) probably benign Het
Gpatch2 T A 1: 187,054,491 (GRCm39) L74Q probably damaging Het
Hnrnpa0 G A 13: 58,275,713 (GRCm39) R139C probably damaging Het
Hrh1 A G 6: 114,457,880 (GRCm39) Y387C probably damaging Het
Ldb3 A T 14: 34,289,440 (GRCm39) D216E probably damaging Het
Lingo1 A T 9: 56,527,009 (GRCm39) S533T probably benign Het
Lmtk2 T G 5: 144,103,245 (GRCm39) probably benign Het
Map1s A G 8: 71,369,745 (GRCm39) E939G possibly damaging Het
Mast1 G A 8: 85,645,360 (GRCm39) T695I probably damaging Het
Mettl21e G A 1: 44,245,524 (GRCm39) R241W probably benign Het
Mfsd4a G A 1: 131,974,091 (GRCm39) T261I probably damaging Het
Mmel1 T C 4: 154,968,095 (GRCm39) S144P probably benign Het
Myo16 A T 8: 10,492,239 (GRCm39) H727L probably benign Het
Ncoa6 T C 2: 155,257,477 (GRCm39) probably null Het
Nipa2 T C 7: 55,582,690 (GRCm39) R352G probably damaging Het
Or2ag2b T A 7: 106,418,047 (GRCm39) Y252* probably null Het
Pard3 T C 8: 128,136,167 (GRCm39) S847P probably damaging Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Plcb1 A C 2: 135,167,591 (GRCm39) I462L probably damaging Het
Prex2 T C 1: 11,230,416 (GRCm39) V814A possibly damaging Het
Rasal3 G A 17: 32,612,522 (GRCm39) R780W possibly damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Ryk A G 9: 102,768,427 (GRCm39) E359G probably damaging Het
Sall2 C A 14: 52,551,451 (GRCm39) L579F probably damaging Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Scg3 T C 9: 75,582,781 (GRCm39) probably benign Het
Slc35f5 A G 1: 125,490,098 (GRCm39) T65A probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Stat2 T A 10: 128,113,762 (GRCm39) S180R probably benign Het
Stxbp2 A G 8: 3,684,079 (GRCm39) T129A probably damaging Het
Tas1r3 A T 4: 155,945,810 (GRCm39) C529S probably damaging Het
Tlr12 T A 4: 128,510,361 (GRCm39) M630L probably benign Het
Tnfrsf10b T G 14: 70,010,905 (GRCm39) D103E probably benign Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Tppp A G 13: 74,178,891 (GRCm39) T111A probably benign Het
Trim12c T C 7: 103,997,544 (GRCm39) Q4R probably benign Het
Ttbk2 T G 2: 120,570,500 (GRCm39) S1149R probably damaging Het
Uncx T C 5: 139,533,120 (GRCm39) L395P probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 A T 11: 84,897,881 (GRCm39) Y1153* probably null Het
Vmn2r6 T C 3: 64,464,042 (GRCm39) E264G probably damaging Het
Vmn2r77 T C 7: 86,461,050 (GRCm39) F792S probably damaging Het
Vps13c A G 9: 67,792,008 (GRCm39) I425V probably benign Het
Vstm4 C T 14: 32,585,712 (GRCm39) A93V probably benign Het
Xrcc6 T A 15: 81,909,885 (GRCm39) S97T probably benign Het
Zscan20 A G 4: 128,480,218 (GRCm39) C758R probably damaging Het
Other mutations in Oaf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Oaf APN 9 43,135,313 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCATCCCAGAGGCACAGTTG -3'
(R):5'- GTGATTTAATGTAGCCCATCAGCC -3'

Sequencing Primer
(F):5'- CACAGTTGCTTCTGAGGTACATAG -3'
(R):5'- TTAATGTAGCCCATCAGCCTAGCC -3'
Posted On 2015-04-06