Incidental Mutation 'R8056:Narf'
ID 619398
Institutional Source Beutler Lab
Gene Symbol Narf
Ensembl Gene ENSMUSG00000000056
Gene Name nuclear prelamin A recognition factor
Synonyms 4430402O11Rik
MMRRC Submission 067493-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R8056 (G1)
Quality Score 193.009
Status Validated
Chromosome 11
Chromosomal Location 121128079-121146682 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121136170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000099304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103015]
AlphaFold Q9CYQ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000103015
AA Change: V182A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056
AA Change: V182A

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 98 391 1e-75 PFAM
Fe_hyd_SSU 396 452 5.66e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T C 11: 48,910,909 (GRCm39) E508G probably benign Het
Acsl3 C T 1: 78,659,611 (GRCm39) L88F probably damaging Het
Adamtsl1 C T 4: 86,260,269 (GRCm39) P835S possibly damaging Het
Agrn A G 4: 156,254,868 (GRCm39) V1616A probably benign Het
Bmerb1 T A 16: 13,856,180 (GRCm39) probably benign Het
Brca2 T C 5: 150,492,771 (GRCm39) V3262A possibly damaging Het
Bsn T C 9: 107,982,506 (GRCm39) D977G Het
Cic G T 7: 24,990,366 (GRCm39) A1956S possibly damaging Het
Clip4 C A 17: 72,110,587 (GRCm39) T189K probably damaging Het
Col12a1 T C 9: 79,507,220 (GRCm39) E279G Het
Col24a1 A C 3: 145,019,925 (GRCm39) I99L possibly damaging Het
Cpne3 A G 4: 19,532,426 (GRCm39) V329A possibly damaging Het
Cyp17a1 T C 19: 46,659,030 (GRCm39) I204V possibly damaging Het
Cyp2c66 A G 19: 39,130,485 (GRCm39) I107V probably benign Het
Dennd4c A G 4: 86,763,213 (GRCm39) R1840G probably null Het
Dhx36 A T 3: 62,396,012 (GRCm39) L465Q possibly damaging Het
Edc4 A G 8: 106,617,116 (GRCm39) probably benign Het
Efcab3 A G 11: 104,799,896 (GRCm39) T2931A probably damaging Het
Fam133b A T 5: 3,615,744 (GRCm39) R215S unknown Het
Fbh1 G A 2: 11,748,441 (GRCm39) T985I probably benign Het
Fras1 A G 5: 96,892,633 (GRCm39) D2911G probably damaging Het
Gm13889 A T 2: 93,787,020 (GRCm39) D151E probably damaging Het
Gosr2 C A 11: 103,588,530 (GRCm39) probably benign Het
Igkv8-26 T A 6: 70,170,706 (GRCm39) L99H probably damaging Het
Inhca A G 9: 103,143,423 (GRCm39) C438R probably damaging Het
Kif16b A G 2: 142,554,762 (GRCm39) F679L probably damaging Het
Kif1a G C 1: 92,982,423 (GRCm39) probably benign Het
Kif3b G C 2: 153,171,979 (GRCm39) R716S possibly damaging Het
Lilra6 A T 7: 3,915,551 (GRCm39) C395S probably damaging Het
Lrp5 A G 19: 3,647,337 (GRCm39) F1302L probably damaging Het
Map2 T G 1: 66,454,779 (GRCm39) V1223G probably damaging Het
Mical1 T A 10: 41,357,168 (GRCm39) N324K probably damaging Het
Morc3 T A 16: 93,642,064 (GRCm39) H94Q probably benign Het
Mpped1 T C 15: 83,720,663 (GRCm39) V199A possibly damaging Het
Msx1 G A 5: 37,981,544 (GRCm39) T45I probably benign Het
Myh7 G A 14: 55,210,776 (GRCm39) Q1714* probably null Het
Ncapd2 G A 6: 125,148,006 (GRCm39) T1107M probably damaging Het
Nek3 A G 8: 22,619,359 (GRCm39) probably null Het
Neurog1 G T 13: 56,399,223 (GRCm39) P175T probably damaging Het
Nlrp9c T C 7: 26,085,112 (GRCm39) T156A probably damaging Het
Or1ad1 T A 11: 50,876,368 (GRCm39) V280E probably damaging Het
Or2a20 A T 6: 43,193,978 (GRCm39) I44F probably damaging Het
Or6c3 G A 10: 129,309,061 (GRCm39) A167T probably benign Het
Orm3 A G 4: 63,277,594 (GRCm39) E194G probably benign Het
Pga5 A C 19: 10,654,161 (GRCm39) probably benign Het
Pik3r2 G T 8: 71,225,011 (GRCm39) P151T probably benign Het
Pkp2 T C 16: 16,031,264 (GRCm39) C10R probably benign Het
Plxdc1 T A 11: 97,869,343 (GRCm39) R82W probably damaging Het
Polr2c G A 8: 95,586,895 (GRCm39) A54T probably benign Het
Rab31 T C 17: 66,024,503 (GRCm39) I59V probably benign Het
Rasgrf2 T C 13: 92,167,321 (GRCm39) M251V probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Rfc1 A C 5: 65,451,436 (GRCm39) probably benign Het
Rhag T C 17: 41,139,679 (GRCm39) I137T probably damaging Het
Rnf216 T C 5: 142,978,616 (GRCm39) M841V probably benign Het
Scaf11 C A 15: 96,312,698 (GRCm39) E1448* probably null Het
Septin11 T C 5: 93,315,435 (GRCm39) L388P unknown Het
Serpina1b A T 12: 103,784,137 (GRCm39) probably benign Het
Skint10 A G 4: 112,573,010 (GRCm39) I262T probably benign Het
Slc13a4 C T 6: 35,245,887 (GRCm39) G586E probably damaging Het
Slc8a1 C T 17: 81,955,352 (GRCm39) G562E probably damaging Het
Slc8b1 T A 5: 120,658,682 (GRCm39) L126Q probably damaging Het
Smg1 A G 7: 117,759,589 (GRCm39) Y2086H unknown Het
Spmip10 A G 18: 56,727,763 (GRCm39) N79S Het
Taf1c A T 8: 120,330,202 (GRCm39) D47E probably benign Het
Tbx5 A C 5: 119,991,678 (GRCm39) M250L probably benign Het
Tekt3 T C 11: 62,974,785 (GRCm39) probably null Het
Topors T C 4: 40,262,221 (GRCm39) I354M probably benign Het
Ttn C A 2: 76,778,574 (GRCm39) G1309V unknown Het
Ttyh1 C T 7: 4,127,622 (GRCm39) probably benign Het
Ubac1 A G 2: 25,897,909 (GRCm39) I237T probably benign Het
Vmn1r197 T A 13: 22,512,388 (GRCm39) V103D probably damaging Het
Zfp184 T C 13: 22,143,008 (GRCm39) F238S probably damaging Het
Zfp445 A G 9: 122,681,032 (GRCm39) F970L possibly damaging Het
Zfp90 A T 8: 107,151,112 (GRCm39) E275V probably damaging Het
Zscan12 C G 13: 21,553,492 (GRCm39) Q439E probably benign Het
Other mutations in Narf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Narf APN 11 121,129,344 (GRCm39) critical splice donor site probably null
R0128:Narf UTSW 11 121,141,662 (GRCm39) missense probably damaging 1.00
R0542:Narf UTSW 11 121,143,690 (GRCm39) missense probably damaging 1.00
R1326:Narf UTSW 11 121,133,379 (GRCm39) missense probably damaging 1.00
R2035:Narf UTSW 11 121,129,326 (GRCm39) missense probably benign 0.00
R2049:Narf UTSW 11 121,141,195 (GRCm39) nonsense probably null
R2078:Narf UTSW 11 121,136,220 (GRCm39) missense probably benign 0.03
R3711:Narf UTSW 11 121,137,764 (GRCm39) nonsense probably null
R3967:Narf UTSW 11 121,129,247 (GRCm39) missense possibly damaging 0.92
R3968:Narf UTSW 11 121,129,247 (GRCm39) missense possibly damaging 0.92
R3970:Narf UTSW 11 121,129,247 (GRCm39) missense possibly damaging 0.92
R4128:Narf UTSW 11 121,141,261 (GRCm39) splice site probably null
R4913:Narf UTSW 11 121,135,469 (GRCm39) missense probably damaging 1.00
R4928:Narf UTSW 11 121,135,765 (GRCm39) missense possibly damaging 0.87
R4946:Narf UTSW 11 121,141,179 (GRCm39) missense possibly damaging 0.71
R5404:Narf UTSW 11 121,133,452 (GRCm39) missense probably benign 0.00
R5799:Narf UTSW 11 121,135,480 (GRCm39) missense probably damaging 1.00
R6753:Narf UTSW 11 121,133,452 (GRCm39) missense probably benign 0.00
R6912:Narf UTSW 11 121,129,287 (GRCm39) missense probably benign 0.00
R7311:Narf UTSW 11 121,139,976 (GRCm39) missense probably benign 0.31
R8559:Narf UTSW 11 121,141,258 (GRCm39) critical splice donor site probably null
R9021:Narf UTSW 11 121,136,209 (GRCm39) missense probably damaging 0.98
X0011:Narf UTSW 11 121,141,698 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAGGACACCTTATGAATAGG -3'
(R):5'- AAGCAACCAGGCAGTGTCTC -3'

Sequencing Primer
(F):5'- ACACCTTATGAATAGGAGCAGTATAG -3'
(R):5'- AACCAGGCAGTGTCTCCATGG -3'
Posted On 2020-01-23