Incidental Mutation 'IGL03248:Hnrnpl'
ID414466
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 #IGL03248
Quality Score
Status
Chromosome7
Chromosomal Location28808541-28822266 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28814080 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 202 (S202P)
Ref Sequence ENSEMBL: ENSMUSP00000133728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038572] [ENSMUST00000172529] [ENSMUST00000172884] [ENSMUST00000174548] [ENSMUST00000174882]
Predicted Effect probably benign
Transcript: ENSMUST00000038572
AA Change: S202P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: S202P

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: ENSMUST00000172529
AA Change: S72P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165
AA Change: S72P

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 probably benign
Transcript: ENSMUST00000172884
AA Change: S72P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134271
Gene: ENSMUSG00000015165
AA Change: S72P

DomainStartEndE-ValueType
Blast:RRM 1 39 1e-21 BLAST
SCOP:d1qm9a1 3 61 3e-3 SMART
Pfam:RRM_6 67 113 5.7e-5 PFAM
Pfam:RRM_1 70 113 1.3e-5 PFAM
Pfam:RRM_5 78 113 9.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174396
Predicted Effect unknown
Transcript: ENSMUST00000174477
AA Change: S193P
SMART Domains Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: S193P

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 probably benign
Transcript: ENSMUST00000174548
AA Change: S202P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: S202P

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
AA Change: S94P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165
AA Change: S94P

DomainStartEndE-ValueType
RRM 1 61 5.18e-1 SMART
RRM 83 153 4.75e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209194
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,225 F116S probably damaging Het
Accsl A G 2: 93,862,784 probably benign Het
Adgrl2 T A 3: 148,817,400 E165V probably damaging Het
Alb T C 5: 90,461,714 probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgef10 T C 8: 14,928,847 V38A probably benign Het
Astn2 A G 4: 65,746,293 probably benign Het
Bahcc1 G A 11: 120,268,409 R154H probably damaging Het
Cep120 A G 18: 53,735,772 Y112H probably benign Het
Chrna5 C T 9: 55,004,639 T241I probably damaging Het
Clasp1 A G 1: 118,602,476 S1215G probably benign Het
Ddx21 C T 10: 62,591,990 R378Q possibly damaging Het
Dnah1 A T 14: 31,269,889 L3052Q probably damaging Het
Dyrk4 G T 6: 126,884,053 T445K probably benign Het
Ercc4 T C 16: 13,127,593 W291R probably damaging Het
Fam208a C T 14: 27,476,692 T1327I probably damaging Het
Flvcr1 A G 1: 191,025,742 W76R probably damaging Het
Frmd3 A G 4: 74,128,218 I132V possibly damaging Het
Gnb4 T C 3: 32,585,175 D323G probably damaging Het
Hnrnpc G A 14: 52,075,439 probably benign Het
Hydin T A 8: 110,595,289 F4524L probably damaging Het
Iars2 A G 1: 185,291,432 probably benign Het
Ino80d A G 1: 63,068,182 probably null Het
Itga8 C A 2: 12,132,516 A13S probably benign Het
Man2a1 T C 17: 64,713,611 F794S probably damaging Het
Mpp7 T C 18: 7,403,269 D347G probably benign Het
Nup93 T C 8: 94,306,088 L411P probably damaging Het
Olfr564 C T 7: 102,803,639 Q54* probably null Het
Plin1 C T 7: 79,722,634 V86I probably damaging Het
Rgs6 A G 12: 83,052,550 probably benign Het
Shroom3 C T 5: 92,952,540 P1473S probably benign Het
Slc12a8 A G 16: 33,551,027 I178V probably damaging Het
Slc20a2 T A 8: 22,558,983 S219T probably benign Het
Tfeb T C 17: 47,786,995 M36T probably benign Het
Trim33 G A 3: 103,310,973 probably benign Het
Trnau1ap A G 4: 132,321,803 Y30H probably damaging Het
Tulp1 T C 17: 28,359,324 K276E possibly damaging Het
Uvssa T A 5: 33,391,816 I340N probably damaging Het
Vmn1r32 T A 6: 66,552,913 N293I possibly damaging Het
Xpc T C 6: 91,504,583 N250S probably damaging Het
Ybey T C 10: 76,468,327 I14V probably benign Het
Zfhx3 T C 8: 108,946,550 Y1411H probably damaging Het
Other mutations in Hnrnpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Hnrnpl APN 7 28813373 missense probably damaging 1.00
IGL00783:Hnrnpl APN 7 28820642 missense probably benign 0.02
IGL00784:Hnrnpl APN 7 28820642 missense probably benign 0.02
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 On2016-08-02