Incidental Mutation 'IGL00402:Narf'
ID28455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Narf
Ensembl Gene ENSMUSG00000000056
Gene Namenuclear prelamin A recognition factor
Synonyms4430402O11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.118) question?
Stock #IGL00402
Quality Score
Status
Chromosome11
Chromosomal Location121237253-121255856 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 121238518 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103015] [ENSMUST00000103015] [ENSMUST00000103015] [ENSMUST00000103015]
Predicted Effect probably null
Transcript: ENSMUST00000103015
SMART Domains Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 98 391 1e-75 PFAM
Fe_hyd_SSU 396 452 5.66e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103015
SMART Domains Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 98 391 1e-75 PFAM
Fe_hyd_SSU 396 452 5.66e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103015
SMART Domains Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 98 391 1e-75 PFAM
Fe_hyd_SSU 396 452 5.66e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000103015
SMART Domains Protein: ENSMUSP00000099304
Gene: ENSMUSG00000000056

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 98 391 1e-75 PFAM
Fe_hyd_SSU 396 452 5.66e-19 SMART
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,295,191 L846H probably benign Het
Abca6 A T 11: 110,184,709 L1319I probably damaging Het
Apob C T 12: 7,993,065 probably benign Het
Atg16l2 A C 7: 101,296,153 S268R probably benign Het
Atp1b3 T C 9: 96,333,703 probably benign Het
Atxn7 T G 14: 14,096,324 probably benign Het
Birc6 G A 17: 74,573,563 probably benign Het
C330027C09Rik T A 16: 49,001,815 H234Q probably damaging Het
C4b G A 17: 34,734,428 T1027I probably damaging Het
Caskin1 T C 17: 24,503,889 I577T probably damaging Het
Cbx6 A G 15: 79,828,929 V99A possibly damaging Het
Ccr9 A C 9: 123,780,044 I252L probably benign Het
Cdh8 A T 8: 99,279,690 D88E probably damaging Het
Cep135 T C 5: 76,601,459 S258P probably damaging Het
Cep57l1 T G 10: 41,721,551 probably benign Het
Col12a1 T C 9: 79,681,537 T1099A possibly damaging Het
Col4a4 C T 1: 82,491,641 G802D unknown Het
Ddx41 T C 13: 55,531,399 T545A probably damaging Het
Disc1 A T 8: 125,088,275 T293S probably benign Het
Fam13b A T 18: 34,454,718 V509D probably damaging Het
Ffar4 C T 19: 38,107,389 P192L probably benign Het
Fn1 C A 1: 71,641,163 C461F probably damaging Het
Gm14226 G T 2: 155,025,158 S345I probably damaging Het
Gopc T C 10: 52,349,230 K308E probably damaging Het
Hapln2 A T 3: 88,024,334 N28K possibly damaging Het
Hectd1 T C 12: 51,769,108 S1394G possibly damaging Het
Hectd1 T C 12: 51,759,432 H1807R probably benign Het
Ifnl2 A T 7: 28,508,865 V193D possibly damaging Het
Il1rap T A 16: 26,722,401 M464K possibly damaging Het
Krtap16-1 A T 11: 99,985,731 C282* probably null Het
Ltv1 C T 10: 13,190,583 V100I probably benign Het
Mcf2l T C 8: 13,000,857 S308P probably damaging Het
Nmd3 T A 3: 69,745,240 N386K possibly damaging Het
Noxo1 C T 17: 24,698,936 probably benign Het
Olfr390 T A 11: 73,787,580 I214N probably damaging Het
Ppic C T 18: 53,409,294 G114D probably damaging Het
Ppp4r1 T C 17: 65,816,019 S339P probably benign Het
Ptprg T A 14: 12,215,992 L1147Q probably damaging Het
Qser1 A G 2: 104,786,981 V1072A probably benign Het
Rad54l2 T A 9: 106,700,561 M1054L probably benign Het
Scara5 A C 14: 65,738,415 probably benign Het
Smtnl2 C T 11: 72,403,259 probably benign Het
Spink8 A T 9: 109,819,219 I25F probably benign Het
Vit G A 17: 78,601,907 probably null Het
Vps13b A G 15: 35,926,226 D3891G possibly damaging Het
Zfp207 T A 11: 80,393,085 M277K probably benign Het
Zp2 T C 7: 120,133,400 D641G probably benign Het
Other mutations in Narf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0128:Narf UTSW 11 121250836 missense probably damaging 1.00
R0542:Narf UTSW 11 121252864 missense probably damaging 1.00
R1326:Narf UTSW 11 121242553 missense probably damaging 1.00
R2035:Narf UTSW 11 121238500 missense probably benign 0.00
R2049:Narf UTSW 11 121250369 nonsense probably null
R2078:Narf UTSW 11 121245394 missense probably benign 0.03
R3711:Narf UTSW 11 121246938 nonsense probably null
R3967:Narf UTSW 11 121238421 missense possibly damaging 0.92
R3968:Narf UTSW 11 121238421 missense possibly damaging 0.92
R3970:Narf UTSW 11 121238421 missense possibly damaging 0.92
R4128:Narf UTSW 11 121250435 splice site probably null
R4913:Narf UTSW 11 121244643 missense probably damaging 1.00
R4928:Narf UTSW 11 121244939 missense possibly damaging 0.87
R4946:Narf UTSW 11 121250353 missense possibly damaging 0.71
R5404:Narf UTSW 11 121242626 missense probably benign 0.00
R5799:Narf UTSW 11 121244654 missense probably damaging 1.00
R6753:Narf UTSW 11 121242626 missense probably benign 0.00
R6912:Narf UTSW 11 121238461 missense probably benign 0.00
R7311:Narf UTSW 11 121249150 missense probably benign 0.31
X0011:Narf UTSW 11 121250872 missense probably damaging 1.00
Posted On2013-04-17