Incidental Mutation 'IGL00783:Hnrnpl'
ID277935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpl
Ensembl Gene ENSMUSG00000015165
Gene Nameheterogeneous nuclear ribonucleoprotein L
SynonymsHnrpl, D830027H13Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00783
Quality Score
Status
Chromosome7
Chromosomal Location28808541-28822266 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28820642 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 482 (F482L)
Ref Sequence ENSEMBL: ENSMUSP00000133728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038572] [ENSMUST00000066264] [ENSMUST00000172529] [ENSMUST00000174548] [ENSMUST00000174882]
Predicted Effect probably benign
Transcript: ENSMUST00000038572
AA Change: F482L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: F482L

DomainStartEndE-ValueType
low complexity region 3 57 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
RRM 100 169 9.8e-9 SMART
RRM 191 261 4.75e-7 SMART
low complexity region 314 339 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
RRM 380 449 5.09e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066264
SMART Domains Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898

DomainStartEndE-ValueType
Pfam:ECH_1 61 321 7.2e-50 PFAM
Pfam:ECH_2 66 258 9.6e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154839
Predicted Effect probably benign
Transcript: ENSMUST00000172529
AA Change: F352L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165
AA Change: F352L

DomainStartEndE-ValueType
Blast:RRM 1 39 9e-20 BLAST
RRM 61 131 4.75e-7 SMART
low complexity region 184 209 N/A INTRINSIC
low complexity region 226 244 N/A INTRINSIC
RRM 250 319 5.09e-7 SMART
Blast:RRM_2 369 442 6e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173818
Predicted Effect unknown
Transcript: ENSMUST00000174477
AA Change: F510L
SMART Domains Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: F510L

DomainStartEndE-ValueType
low complexity region 4 49 N/A INTRINSIC
low complexity region 63 78 N/A INTRINSIC
RRM 92 161 9.8e-9 SMART
RRM 183 253 4.75e-7 SMART
low complexity region 339 368 N/A INTRINSIC
low complexity region 385 403 N/A INTRINSIC
RRM 409 478 5.09e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174526
Predicted Effect probably benign
Transcript: ENSMUST00000174548
AA Change: F482L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: F482L

DomainStartEndE-ValueType
low complexity region 3 57 N/A INTRINSIC
low complexity region 71 86 N/A INTRINSIC
RRM 100 169 9.8e-9 SMART
RRM 191 261 4.75e-7 SMART
low complexity region 314 339 N/A INTRINSIC
low complexity region 356 374 N/A INTRINSIC
RRM 380 449 5.09e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174755
Predicted Effect probably benign
Transcript: ENSMUST00000174882
SMART Domains Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165

DomainStartEndE-ValueType
RRM 1 61 5.18e-1 SMART
RRM 83 153 4.75e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Arhgef33 A T 17: 80,368,230 I403L probably benign Het
Cd4 A G 6: 124,872,989 V121A possibly damaging Het
Dock10 A G 1: 80,572,449 probably benign Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Hid1 A T 11: 115,348,510 Y776N probably damaging Het
Ift122 T A 6: 115,905,902 H659Q probably benign Het
Igsf3 A G 3: 101,431,239 R290G probably damaging Het
Jhy T C 9: 40,922,752 T291A probably benign Het
Kmt2e A G 5: 23,492,358 I605V probably damaging Het
Nmt2 T A 2: 3,314,809 F279I probably damaging Het
Nup93 G A 8: 94,309,023 probably null Het
Oas2 A G 5: 120,738,363 F15S probably damaging Het
Pecam1 T C 11: 106,699,798 D22G probably damaging Het
Pold2 T C 11: 5,872,412 E419G probably benign Het
Rassf3 T C 10: 121,416,080 H142R probably benign Het
Rp2 T A X: 20,377,169 C128S probably damaging Het
Scn7a T G 2: 66,692,564 E932A probably damaging Het
Sis T C 3: 72,946,632 H504R probably benign Het
Syce1l A G 8: 113,652,862 D120G probably benign Het
Tns4 A G 11: 99,070,395 probably benign Het
Unc80 G A 1: 66,608,437 G1512E probably benign Het
Other mutations in Hnrnpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Hnrnpl APN 7 28813373 missense probably damaging 1.00
IGL00784:Hnrnpl APN 7 28820642 missense probably benign 0.02
IGL03248:Hnrnpl APN 7 28814080 missense probably benign 0.00
R0143:Hnrnpl UTSW 7 28814192 splice site probably benign
R1529:Hnrnpl UTSW 7 28813923 missense possibly damaging 0.74
R1567:Hnrnpl UTSW 7 28820183 missense possibly damaging 0.73
R3786:Hnrnpl UTSW 7 28811011 unclassified probably benign
R4837:Hnrnpl UTSW 7 28817337 missense probably benign 0.00
R5412:Hnrnpl UTSW 7 28811104 unclassified probably benign
R6617:Hnrnpl UTSW 7 28818584 intron probably benign
R7238:Hnrnpl UTSW 7 28813975 missense
R8283:Hnrnpl UTSW 7 28814272 missense
R8336:Hnrnpl UTSW 7 28814037 missense possibly damaging 0.87
Posted On2015-04-16