Incidental Mutation 'IGL00340:Hnrnpl'
ID 5287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpl
Ensembl Gene ENSMUSG00000015165
Gene Name heterogeneous nuclear ribonucleoprotein L
Synonyms Hnrpl, D830027H13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00340
Quality Score
Status
Chromosome 7
Chromosomal Location 28507971-28521693 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 28512798 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8R081
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 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 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 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 noncoding transcript
Transcript: ENSMUST00000209194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174755
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
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Adgre5 T A 8: 84,455,030 (GRCm39) M221L probably benign Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Bcas3 A T 11: 85,256,417 (GRCm39) I60L probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Farsa A G 8: 85,590,886 (GRCm39) K208R probably damaging Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Klhl14 G A 18: 21,784,921 (GRCm39) P169S probably benign Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lmod2 A G 6: 24,598,051 (GRCm39) E57G probably damaging Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Hnrnpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00783:Hnrnpl APN 7 28,520,067 (GRCm39) missense probably benign 0.02
IGL00784:Hnrnpl APN 7 28,520,067 (GRCm39) missense probably benign 0.02
IGL03248:Hnrnpl APN 7 28,513,505 (GRCm39) missense probably benign 0.00
R0143:Hnrnpl UTSW 7 28,513,617 (GRCm39) splice site probably benign
R1529:Hnrnpl UTSW 7 28,513,348 (GRCm39) missense possibly damaging 0.74
R1567:Hnrnpl UTSW 7 28,519,608 (GRCm39) missense possibly damaging 0.73
R3786:Hnrnpl UTSW 7 28,510,436 (GRCm39) unclassified probably benign
R4837:Hnrnpl UTSW 7 28,516,762 (GRCm39) missense probably benign 0.00
R5412:Hnrnpl UTSW 7 28,510,529 (GRCm39) unclassified probably benign
R6617:Hnrnpl UTSW 7 28,518,009 (GRCm39) intron probably benign
R7238:Hnrnpl UTSW 7 28,513,400 (GRCm39) missense
R8283:Hnrnpl UTSW 7 28,513,697 (GRCm39) missense
R8336:Hnrnpl UTSW 7 28,513,462 (GRCm39) missense possibly damaging 0.87
Posted On 2012-04-20