Incidental Mutation 'IGL02926:Narfl'
ID363883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Narfl
Ensembl Gene ENSMUSG00000002280
Gene Namenuclear prelamin A recognition factor-like
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02926
Quality Score
Status
Chromosome17
Chromosomal Location25773776-25783332 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25782154 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 460 (H460R)
Ref Sequence ENSEMBL: ENSMUSP00000117136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000131458] [ENSMUST00000133071] [ENSMUST00000134108] [ENSMUST00000138759] [ENSMUST00000140738] [ENSMUST00000150324] [ENSMUST00000145053]
Predicted Effect probably benign
Transcript: ENSMUST00000002350
AA Change: H444R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280
AA Change: H444R

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 406 8.5e-95 PFAM
Fe_hyd_SSU 410 466 9.56e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077938
SMART Domains Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095500
SMART Domains Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202

DomainStartEndE-ValueType
Pfam:DUF4472 63 190 5.5e-23 PFAM
coiled coil region 364 408 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130861
Predicted Effect probably benign
Transcript: ENSMUST00000131458
SMART Domains Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133071
SMART Domains Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134108
AA Change: H460R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280
AA Change: H460R

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 422 4e-85 PFAM
Fe_hyd_SSU 426 482 9.56e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138100
Predicted Effect probably benign
Transcript: ENSMUST00000138759
SMART Domains Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148986
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150324
SMART Domains Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145053
SMART Domains Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Pfam:Lactamase_B 7 113 3.3e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted knock-out die before E10.5. Mice heterozygous for a targeted allele exhibit partial lethality between E10.5 and birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rbl1 A G 2: 157,167,413 V734A probably benign Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Narfl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Narfl APN 17 25780320 missense possibly damaging 0.83
IGL02266:Narfl APN 17 25780326 missense possibly damaging 0.91
IGL02537:Narfl APN 17 25778942 unclassified probably benign
napoleon UTSW 17 25782252 makesense probably null
R0097:Narfl UTSW 17 25777002 missense possibly damaging 0.94
R0097:Narfl UTSW 17 25777002 missense possibly damaging 0.94
R0723:Narfl UTSW 17 25781821 missense probably damaging 1.00
R1219:Narfl UTSW 17 25775101 missense probably damaging 1.00
R1370:Narfl UTSW 17 25776988 missense probably benign 0.24
R4737:Narfl UTSW 17 25781309 missense probably damaging 1.00
R4739:Narfl UTSW 17 25781309 missense probably damaging 1.00
R4740:Narfl UTSW 17 25781309 missense probably damaging 1.00
R4747:Narfl UTSW 17 25780353 missense probably benign 0.04
R4826:Narfl UTSW 17 25780332 missense probably damaging 1.00
R5382:Narfl UTSW 17 25776920 unclassified probably benign
R5789:Narfl UTSW 17 25781203 missense probably benign
R7275:Narfl UTSW 17 25775134 missense possibly damaging 0.94
R7576:Narfl UTSW 17 25778970 missense probably damaging 1.00
R7615:Narfl UTSW 17 25782129 missense probably benign 0.01
R7706:Narfl UTSW 17 25782252 makesense probably null
R7911:Narfl UTSW 17 25780398 missense probably benign 0.16
R8103:Narfl UTSW 17 25777421 missense probably benign 0.02
Posted On2015-12-18