Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Hnrnpl'

22439

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpl

Ensembl Gene

ENSMUSG00000015165

Gene Name

heterogeneous nuclear ribonucleoprotein L

Synonyms

Hnrpl, D830027H13Rik

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28507971-28521693 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 28513617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038572] [ENSMUST00000172529] [ENSMUST00000172884] [ENSMUST00000174548] [ENSMUST00000174882]

AlphaFold

Q8R081

Predicted Effect

probably benign
Transcript: ENSMUST00000038572

SMART Domains

Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165

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: ENSMUST00000172529

SMART Domains

Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165

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

probably benign
Transcript: ENSMUST00000172884

SMART Domains

Protein: ENSMUSP00000134271
Gene: ENSMUSG00000015165

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000174548

SMART Domains

Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165

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: ENSMUST00000174477

SMART Domains

Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209194

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Ireb2	T	C	9: 54,793,193 (GRCm39)	F223L	probably benign	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGATGACTCCCGGAGCGTAAAC -3'
(R):5'- AGCTGAGCTGTCTCACTTGCAC -3'

Sequencing Primer
(F):5'- CGGAGCGTAAACAGCGTG -3'
(R):5'- AACTCTCACAAGGGGTGC -3'

Posted On

2013-04-16