Incidental Mutation 'R7524:Oaf'
ID 582860
Institutional Source Beutler Lab
Gene Symbol Oaf
Ensembl Gene ENSMUSG00000032014
Gene Name out at first homolog
Synonyms D130038B21Rik, D9Ucla1
MMRRC Submission 045596-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7524 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 43132575-43151113 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43134077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 215 (R215C)
Ref Sequence ENSEMBL: ENSMUSP00000034512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034512]
AlphaFold Q8QZR4
Predicted Effect probably damaging
Transcript: ENSMUST00000034512
AA Change: R215C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034512
Gene: ENSMUSG00000032014
AA Change: R215C

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:OAF 42 280 1.7e-108 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (79/79)
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 C T 8: 56,325,395 (GRCm39) C353Y probably damaging Het
Afap1l2 T A 19: 56,906,543 (GRCm39) E452V probably damaging Het
Ak6 A G 13: 100,800,415 (GRCm39) D45G probably benign Het
Arhgap17 G A 7: 122,905,643 (GRCm39) P334L probably damaging Het
Asns G T 6: 7,677,259 (GRCm39) probably null Het
Bend7 A G 2: 4,804,791 (GRCm39) T424A probably benign Het
Btbd2 C T 10: 80,482,278 (GRCm39) E241K probably damaging Het
Commd2 A C 3: 57,557,569 (GRCm39) L99W probably damaging Het
Cpne9 A T 6: 113,279,025 (GRCm39) D473V probably damaging Het
Cuzd1 A T 7: 130,913,347 (GRCm39) F423L probably damaging Het
Cyp2d9 T C 15: 82,340,146 (GRCm39) F390L probably damaging Het
Dcaf5 T A 12: 80,423,470 (GRCm39) Q234L probably benign Het
Dennd3 T G 15: 73,396,095 (GRCm39) Y201* probably null Het
Dnah17 T C 11: 118,012,307 (GRCm39) D485G probably benign Het
Dnah5 A T 15: 28,297,212 (GRCm39) T1469S possibly damaging Het
Dnah6 T C 6: 73,095,082 (GRCm39) D2167G probably damaging Het
Dst T C 1: 34,330,974 (GRCm39) V4921A possibly damaging Het
Ephb2 A G 4: 136,387,020 (GRCm39) Y736H probably damaging Het
Eri2 C G 7: 119,384,972 (GRCm39) V510L probably benign Het
Eya2 G A 2: 165,611,246 (GRCm39) probably null Het
Fastkd5 G T 2: 130,458,048 (GRCm39) Q181K probably benign Het
Fcgbp T C 7: 27,802,391 (GRCm39) S1440P probably damaging Het
Fkbp9 G A 6: 56,845,725 (GRCm39) V354M probably damaging Het
Frmpd1 T A 4: 45,271,181 (GRCm39) S304T probably benign Het
Gtf2a2 T A 9: 69,922,629 (GRCm39) Y3* probably null Het
Hagh G A 17: 25,080,314 (GRCm39) V226I probably benign Het
Hemk1 T A 9: 107,205,484 (GRCm39) I293F probably benign Het
Kcna3 A G 3: 106,944,523 (GRCm39) E262G probably damaging Het
Kcnt2 A T 1: 140,511,793 (GRCm39) T983S probably damaging Het
Klhdc3 A T 17: 46,989,340 (GRCm39) H7Q probably damaging Het
Knl1 A T 2: 118,896,460 (GRCm39) Q94L probably damaging Het
Krt12 T C 11: 99,310,485 (GRCm39) D224G probably damaging Het
Lats1 T A 10: 7,577,742 (GRCm39) S289T possibly damaging Het
Man2a2 G C 7: 80,018,613 (GRCm39) A82G probably benign Het
Map1a G A 2: 121,120,293 (GRCm39) V60M probably damaging Het
Mms22l T A 4: 24,536,138 (GRCm39) F536I possibly damaging Het
Ms4a14 T C 19: 11,281,200 (GRCm39) T453A unknown Het
Muc3a A C 5: 137,245,020 (GRCm39) I151S probably benign Het
Myorg C A 4: 41,498,779 (GRCm39) V284L probably benign Het
Or4c112 T A 2: 88,854,315 (GRCm39) I11L probably benign Het
Or4c125 A G 2: 89,170,221 (GRCm39) C142R probably benign Het
Or4e5 T C 14: 52,727,750 (GRCm39) I224V probably damaging Het
Or5ar1 T A 2: 85,671,701 (GRCm39) M145L probably benign Het
Or6z7 T C 7: 6,483,586 (GRCm39) N190D probably benign Het
Or7a42 T A 10: 78,791,325 (GRCm39) Y95* probably null Het
Pcdhgb4 A T 18: 37,854,661 (GRCm39) D352V probably benign Het
Pced1a A G 2: 130,263,948 (GRCm39) F235L probably benign Het
Pclo A G 5: 14,728,317 (GRCm39) I2392V unknown Het
Pld1 A T 3: 28,078,470 (GRCm39) D43V possibly damaging Het
Ppp1r1b C A 11: 98,241,720 (GRCm39) A51D possibly damaging Het
Prr23a1 T A 9: 98,724,917 (GRCm39) L93H probably damaging Het
Psg20 T C 7: 18,418,584 (GRCm39) D61G probably benign Het
Rab40b T A 11: 121,278,878 (GRCm39) I31F probably damaging Het
Rasd2 T C 8: 75,948,709 (GRCm39) F212L probably benign Het
Rbl2 A G 8: 91,841,821 (GRCm39) I1006V probably benign Het
Sema6c A G 3: 95,074,371 (GRCm39) E59G probably benign Het
Slc22a2 G T 17: 12,824,944 (GRCm39) V269L possibly damaging Het
Slc2a1 C T 4: 118,989,809 (GRCm39) P149S probably damaging Het
Smad4 T G 18: 73,808,942 (GRCm39) E108D probably damaging Het
Sorbs2 T A 8: 46,248,693 (GRCm39) I648K probably benign Het
Suclg1 A T 6: 73,240,824 (GRCm39) I118F probably damaging Het
Tasor T A 14: 27,188,160 (GRCm39) C869S probably damaging Het
Tet2 A G 3: 133,185,990 (GRCm39) I1149T probably benign Het
Tfr2 T A 5: 137,569,751 (GRCm39) Y82* probably null Het
Tfr2 G T 5: 137,581,751 (GRCm39) V613L probably benign Het
Tg A T 15: 66,568,010 (GRCm39) M1305L probably benign Het
Tmem176a A T 6: 48,821,039 (GRCm39) M170L probably benign Het
Trim71 T C 9: 114,342,230 (GRCm39) N684S probably benign Het
Tspan9 A G 6: 127,942,214 (GRCm39) I212T probably benign Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Uqcrc1 C T 9: 108,765,827 (GRCm39) T14M possibly damaging Het
Vmn2r11 T C 5: 109,201,848 (GRCm39) I219V probably benign Het
Vmn2r76 T C 7: 85,874,577 (GRCm39) H800R probably benign Het
Vmn2r76 C T 7: 85,879,374 (GRCm39) G309R probably benign Het
Xpc A T 6: 91,476,513 (GRCm39) C529S probably benign Het
Zfp455 T A 13: 67,355,688 (GRCm39) S254T possibly damaging Het
Zfp746 T C 6: 48,041,823 (GRCm39) H301R possibly damaging Het
Zyg11a A T 4: 108,049,271 (GRCm39) I490N 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
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
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'- GATTTAATGTAGCCCATCAGCCTAG -3'

Sequencing Primer
(F):5'- CACAGTTGCTTCTGAGGTACATAG -3'
(R):5'- CCATCAGCCTAGCCTCAGG -3'
Posted On 2019-10-17