Incidental Mutation 'IGL00340:Hnrnpl'
ID5287
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 #IGL00340
Quality Score
Status
Chromosome7
Chromosomal Location28808541-28822266 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 28813373 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 118 (A118D)
Ref Sequence ENSEMBL: ENSMUSP00000133728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038572] [ENSMUST00000172529] [ENSMUST00000172884] [ENSMUST00000174548] [ENSMUST00000174882]
Predicted Effect probably damaging
Transcript: ENSMUST00000038572
AA Change: A118D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: A118D

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
SMART Domains Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165

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
SMART Domains Protein: ENSMUSP00000134271
Gene: ENSMUSG00000015165

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: A109D
SMART Domains Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: A109D

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 damaging
Transcript: ENSMUST00000174548
AA Change: A118D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: A118D

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 damaging
Transcript: ENSMUST00000174882
AA Change: A10D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165
AA Change: A10D

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik G T 2: 111,220,762 L230I probably damaging Het
Adamts3 G A 5: 89,701,666 H632Y probably damaging Het
Adgre5 T A 8: 83,728,401 M221L probably benign Het
Apba2 A T 7: 64,736,941 I439F possibly damaging Het
Arid1b C A 17: 5,321,284 N632K probably damaging Het
Bcas3 A T 11: 85,365,591 I60L probably damaging Het
Brd9 T C 13: 73,938,547 S56P probably damaging Het
Ccdc57 T A 11: 120,860,469 D925V possibly damaging Het
Ccna1 A G 3: 55,050,655 V143A probably damaging Het
Cdhr3 T C 12: 33,052,209 T410A probably benign Het
Ddx60 G T 8: 61,958,646 D511Y probably damaging Het
Drc7 C A 8: 95,056,001 probably benign Het
Dysf A G 6: 84,141,951 E1290G probably benign Het
Fam168b T C 1: 34,836,802 M1V probably null Het
Farsa A G 8: 84,864,257 K208R probably damaging Het
Fnip2 A G 3: 79,518,061 probably benign Het
Gm17535 A T 9: 3,035,111 H170L probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm5852 T C 3: 93,727,194 noncoding transcript Het
Gnb2 T C 5: 137,530,706 probably benign Het
Gpr158 A G 2: 21,368,683 N143S probably damaging Het
Hcn1 C A 13: 117,602,977 Q92K unknown Het
Helb T C 10: 120,098,245 I678V possibly damaging Het
Klhl14 G A 18: 21,651,864 P169S probably benign Het
Kndc1 T C 7: 139,901,988 probably benign Het
Lmod2 A G 6: 24,598,052 E57G probably damaging Het
Lrch4 T C 5: 137,637,747 I300T possibly damaging Het
Lrp6 A G 6: 134,456,090 V1426A probably benign Het
Lrrc39 A G 3: 116,570,981 probably benign Het
Mamstr G A 7: 45,644,285 V262I probably benign Het
Mob1b A T 5: 88,756,155 T217S probably benign Het
Mocs3 G A 2: 168,231,491 R286H possibly damaging Het
Mpo A T 11: 87,802,617 Q27L probably benign Het
Ncdn A T 4: 126,747,188 D506E probably benign Het
Noxa1 A G 2: 25,094,902 I8T probably benign Het
Olfr46 T A 7: 140,610,753 S196T probably damaging Het
Olfr514 C T 7: 108,825,073 V309I probably benign Het
Olfr878 A G 9: 37,919,050 Y131C probably damaging Het
Oma1 G T 4: 103,319,368 A110S probably benign Het
Pde4a A C 9: 21,211,061 K694T probably benign Het
Phc1 A G 6: 122,322,999 probably benign Het
Pias1 A G 9: 62,923,296 V187A probably damaging Het
Pifo A G 3: 106,014,508 V33A probably benign Het
Pigf C A 17: 87,020,448 L130F probably null Het
Pkd1 G T 17: 24,580,095 V2763L probably damaging Het
Ppp1r8 T C 4: 132,834,681 Y76C probably damaging Het
Ppp6r3 C A 19: 3,518,324 G158V probably damaging Het
Ptpn13 A G 5: 103,551,058 I1136V probably damaging Het
Ptprq T C 10: 107,576,929 I1770V probably damaging Het
Rhpn2 A T 7: 35,370,760 I148F probably damaging Het
Stard3 T C 11: 98,377,459 Y239H probably damaging Het
Stau1 T C 2: 166,950,809 Y412C probably benign Het
Sucnr1 A G 3: 60,086,632 I194V probably benign Het
Tanc1 A G 2: 59,790,841 T335A possibly damaging Het
Tmem126a T C 7: 90,452,755 T79A probably benign Het
Trav9-2 A T 14: 53,591,383 Y70F probably benign Het
Tspear A G 10: 77,873,236 E432G probably benign Het
Ube2o T C 11: 116,544,754 R403G probably benign Het
Unc80 C A 1: 66,606,459 S1431R possibly damaging Het
Usp24 G A 4: 106,401,139 C1578Y probably damaging Het
Vsig10 A T 5: 117,351,587 M473L probably benign Het
Xpot T A 10: 121,605,644 M559L probably benign Het
Other mutations in Hnrnpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Hnrnpl APN 7 28820642 missense probably benign 0.02
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 On2012-04-20