Incidental Mutation 'R6389:Naf1'
ID515698
Institutional Source Beutler Lab
Gene Symbol Naf1
Ensembl Gene ENSMUSG00000014907
Gene Namenuclear assembly factor 1 ribonucleoprotein
SynonymsLOC234344
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #R6389 (G1)
Quality Score150.008
Status Validated
Chromosome8
Chromosomal Location66860217-66890564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 66861028 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 24 (S24L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118009]
Predicted Effect possibly damaging
Transcript: ENSMUST00000118009
AA Change: S221L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112640
Gene: ENSMUSG00000014907
AA Change: S221L

DomainStartEndE-ValueType
low complexity region 35 180 N/A INTRINSIC
low complexity region 192 200 N/A INTRINSIC
low complexity region 218 246 N/A INTRINSIC
Pfam:Gar1 280 431 2.3e-48 PFAM
low complexity region 517 532 N/A INTRINSIC
low complexity region 535 548 N/A INTRINSIC
low complexity region 570 585 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000212916
AA Change: S24L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.1020 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality between implantation and placentation while heterozygotes show no evident ribosomal pathology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,497,830 L326R possibly damaging Het
5430403G16Rik G A 5: 109,676,019 P522S possibly damaging Het
Abcb11 A T 2: 69,323,894 N109K probably damaging Het
Actn1 T A 12: 80,174,522 M586L probably benign Het
Ago4 T A 4: 126,507,244 I603F probably damaging Het
Bicc1 A T 10: 70,958,922 V135D probably damaging Het
Bms1 T C 6: 118,403,235 N704D possibly damaging Het
Cadm4 A C 7: 24,499,534 Q78P probably benign Het
Ccdc114 G T 7: 45,948,516 V617F probably benign Het
Cfap74 T C 4: 155,423,336 I248T possibly damaging Het
Clu G C 14: 65,971,322 probably benign Het
Cnnm3 T C 1: 36,520,522 V514A probably damaging Het
Cntd1 A T 11: 101,285,751 I225F probably damaging Het
Col20a1 T C 2: 180,992,583 probably null Het
Ctnnal1 A G 4: 56,813,849 V640A probably benign Het
Cul4a A G 8: 13,140,278 T572A probably benign Het
D16Ertd472e A G 16: 78,545,183 S270P probably damaging Het
Dmp1 A T 5: 104,212,922 N488I probably damaging Het
Dnah14 G A 1: 181,651,202 probably null Het
Dst T C 1: 34,193,184 L3464P probably damaging Het
Fnbp4 C T 2: 90,745,535 P27S unknown Het
Fpr-rs3 A T 17: 20,623,968 F304I probably damaging Het
Gm13941 T C 2: 111,098,389 Q108R unknown Het
Hcn3 C T 3: 89,150,933 A339T possibly damaging Het
Inpp5f A G 7: 128,678,056 D460G probably damaging Het
Ism2 T C 12: 87,282,371 E253G possibly damaging Het
Klrg1 T C 6: 122,271,472 N156S probably damaging Het
Ksr2 A G 5: 117,414,842 N5S probably benign Het
Lrrc7 T G 3: 158,185,426 E368A probably damaging Het
Ly9 G C 1: 171,596,537 S482C probably damaging Het
Map3k1 T C 13: 111,769,441 D289G probably damaging Het
Mcub T C 3: 129,918,708 T173A probably benign Het
Mup16 T C 4: 61,518,940 E48G probably damaging Het
Ncoa6 A G 2: 155,395,816 S2024P probably damaging Het
Nop56 C A 2: 130,277,887 Q83K probably damaging Het
Nt5e T C 9: 88,363,471 Y265H probably damaging Het
Olfr1151 C T 2: 87,858,023 P283S probably damaging Het
Olfr1197 A G 2: 88,728,672 V309A probably benign Het
Olfr551 A T 7: 102,588,472 N90K probably benign Het
Oxct2a T A 4: 123,323,427 K54* probably null Het
Oxct2b G T 4: 123,116,574 D96Y probably benign Het
Pisd A G 5: 32,764,847 Y250H probably damaging Het
Plekhm1 G T 11: 103,366,894 N1071K probably benign Het
Prr11 G A 11: 87,098,738 T269I possibly damaging Het
Ptpn4 T A 1: 119,721,954 H304L probably damaging Het
Rrp1b A G 17: 32,056,627 K383E possibly damaging Het
Sel1l2 C A 2: 140,245,354 A466S probably damaging Het
Slc9a4 A G 1: 40,580,684 I57V probably benign Het
Spag9 A G 11: 94,086,311 E81G probably damaging Het
Tbr1 A G 2: 61,806,287 probably benign Het
Tnrc6c A G 11: 117,722,741 D735G probably damaging Het
Tspan17 A T 13: 54,795,616 probably null Het
Tyw5 T C 1: 57,391,499 K175R probably damaging Het
Ube2o A C 11: 116,548,858 I162R probably null Het
Ubr1 G T 2: 120,881,039 T1458K probably benign Het
Vmn2r16 A T 5: 109,330,478 Q33L probably benign Het
Zfp799 A G 17: 32,820,578 L238P probably damaging Het
Other mutations in Naf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Naf1 APN 8 66885800 missense probably damaging 1.00
IGL01861:Naf1 APN 8 66864533 splice site probably benign
IGL02817:Naf1 APN 8 66883525 missense probably damaging 1.00
R0016:Naf1 UTSW 8 66889055 splice site probably benign
R0092:Naf1 UTSW 8 66889108 missense probably benign 0.24
R2062:Naf1 UTSW 8 66887780 missense probably damaging 1.00
R2065:Naf1 UTSW 8 66887780 missense probably damaging 1.00
R2066:Naf1 UTSW 8 66887780 missense probably damaging 1.00
R2068:Naf1 UTSW 8 66887780 missense probably damaging 1.00
R2209:Naf1 UTSW 8 66860536 unclassified probably benign
R4296:Naf1 UTSW 8 66889462 missense possibly damaging 0.92
R5186:Naf1 UTSW 8 66879646 missense probably benign 0.10
R5560:Naf1 UTSW 8 66883545 missense probably damaging 1.00
R6122:Naf1 UTSW 8 66883444 missense probably damaging 1.00
R6143:Naf1 UTSW 8 66877695 missense possibly damaging 0.95
R6827:Naf1 UTSW 8 66877691 missense possibly damaging 0.65
R7083:Naf1 UTSW 8 66860486 unclassified probably benign
R7444:Naf1 UTSW 8 66860548 unclassified probably benign
R7727:Naf1 UTSW 8 66860548 unclassified probably benign
R7818:Naf1 UTSW 8 66889376 missense probably damaging 0.97
R7860:Naf1 UTSW 8 66860513 missense unknown
R7923:Naf1 UTSW 8 66860548 unclassified probably benign
R7977:Naf1 UTSW 8 66860494 unclassified probably benign
R8420:Naf1 UTSW 8 66860548 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- GATCCCGGCGGAAGACCA -3'
(R):5'- CTCCTAGAAGTAGCTGGGACCAT -3'

Sequencing Primer
(F):5'- CCGAACTGGGATGCGGG -3'
(R):5'- TGGGACCATGGGAAGCACTC -3'
Posted On2018-05-04