Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00784:Hnrnpl'

277950

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 #

IGL00784

Quality Score

Status

Chromosome

Chromosomal Location

28507971-28521693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28520067 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q8R081

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

Domain	Start	End	E-Value	Type
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

unknown
Transcript: ENSMUST00000174477
AA Change: F510L

SMART Domains

Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: F510L

Domain	Start	End	E-Value	Type
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: ENSMUST00000173818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174526

Predicted Effect

probably benign
Transcript: ENSMUST00000174882

SMART Domains

Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165

Domain	Start	End	E-Value	Type
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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,069,525 (GRCm39)		probably benign	Het
Arhgef33	A	T	17: 80,675,659 (GRCm39)	I403L	probably benign	Het
Cd4	A	G	6: 124,849,952 (GRCm39)	V121A	possibly damaging	Het
Cep89	T	A	7: 35,105,132 (GRCm39)	V132E	possibly damaging	Het
Dock10	A	G	1: 80,550,166 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Ift122	T	A	6: 115,882,863 (GRCm39)	H659Q	probably benign	Het
Jhy	T	C	9: 40,834,048 (GRCm39)	T291A	probably benign	Het
Nbeal2	T	C	9: 110,458,831 (GRCm39)		probably benign	Het
Ncaph2	A	G	15: 89,254,243 (GRCm39)	D367G	probably damaging	Het
Nmt2	T	A	2: 3,315,846 (GRCm39)	F279I	probably damaging	Het
Oas2	A	G	5: 120,876,428 (GRCm39)	F15S	probably damaging	Het
Pold2	T	C	11: 5,822,412 (GRCm39)	E419G	probably benign	Het
Scn7a	T	G	2: 66,522,908 (GRCm39)	E932A	probably damaging	Het
Stradb	T	C	1: 59,027,688 (GRCm39)	S73P	probably damaging	Het
Syce1l	A	G	8: 114,379,494 (GRCm39)	D120G	probably benign	Het
Unc80	G	A	1: 66,647,596 (GRCm39)	G1512E	probably benign	Het
Vps13b	G	T	15: 35,847,046 (GRCm39)	D2610Y	probably damaging	Het

Other mutations in Hnrnpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Hnrnpl	APN	7	28,512,798 (GRCm39)	missense	probably damaging	1.00
IGL00783: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

2015-04-16