Mutagenetix > Incidental Mutation

Incidental Mutation 'R5412:Hnrnpl'

427536

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpl

Ensembl Gene

ENSMUSG00000015165

Gene Name

heterogeneous nuclear ribonucleoprotein L

Synonyms

Hnrpl, D830027H13Rik

MMRRC Submission

042981-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5412 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

28507971-28521693 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 28510529 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

unknown
Transcript: ENSMUST00000038572
AA Change: N65S

SMART Domains

Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: N65S

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: ENSMUST00000173750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174396

Predicted Effect

unknown
Transcript: ENSMUST00000174477
AA Change: N56S

SMART Domains

Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: N56S

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

unknown
Transcript: ENSMUST00000174548
AA Change: N65S

SMART Domains

Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: N65S

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

noncoding transcript
Transcript: ENSMUST00000209194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174755

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,886,036 (GRCm39)	N36Y	probably damaging	Het
Ankfn1	T	A	11: 89,396,007 (GRCm39)	E246D	probably benign	Het
Arid1a	T	C	4: 133,446,913 (GRCm39)		probably benign	Het
Bbs7	A	T	3: 36,653,522 (GRCm39)	D300E	probably benign	Het
C3	T	C	17: 57,527,187 (GRCm39)	D754G	probably benign	Het
Ccpg1	A	T	9: 72,917,588 (GRCm39)	Q240L	probably damaging	Het
Cdk13	G	A	13: 17,941,115 (GRCm39)	P650S	probably damaging	Het
Celsr2	G	T	3: 108,307,311 (GRCm39)	S1933Y	probably damaging	Het
Cep135	T	A	5: 76,764,709 (GRCm39)	H562Q	probably benign	Het
Cyp26a1	G	T	19: 37,689,630 (GRCm39)	C442F	probably damaging	Het
Dnah7a	T	C	1: 53,674,503 (GRCm39)	S425G	probably benign	Het
Espn	C	T	4: 152,212,582 (GRCm39)	V752M	probably damaging	Het
Glyr1	A	G	16: 4,854,297 (GRCm39)	S113P	possibly damaging	Het
Grk4	A	T	5: 34,902,612 (GRCm39)	Y388F	probably benign	Het
H2-T15	C	T	17: 36,366,936 (GRCm39)	C369Y	probably benign	Het
Heca	C	A	10: 17,778,044 (GRCm39)	V518F	probably damaging	Het
Hmcn2	C	T	2: 31,236,629 (GRCm39)	P391S	possibly damaging	Het
Hsd3b2	A	G	3: 98,619,208 (GRCm39)	S246P	possibly damaging	Het
Ifna11	C	T	4: 88,738,380 (GRCm39)	P62L	probably damaging	Het
Katnal2	A	T	18: 77,090,131 (GRCm39)	V292D	probably damaging	Het
Krt16	T	A	11: 100,137,593 (GRCm39)	I371F	probably damaging	Het
Ly6g2	A	T	15: 75,089,669 (GRCm39)	E59V	probably damaging	Het
Map10	A	T	8: 126,397,724 (GRCm39)	L372F	probably damaging	Het
Megf10	A	T	18: 57,324,219 (GRCm39)	M87L	probably damaging	Het
Ncoa6	T	C	2: 155,249,701 (GRCm39)	H1201R	possibly damaging	Het
Ndc80	C	A	17: 71,821,226 (GRCm39)	D241Y	probably damaging	Het
Ndufs1	T	C	1: 63,205,508 (GRCm39)	M94V	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,195 (GRCm39)	R121L	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or6a2	A	G	7: 106,600,842 (GRCm39)	V75A	probably damaging	Het
Otop1	A	G	5: 38,455,328 (GRCm39)	I241V	probably benign	Het
Panx2	C	A	15: 88,953,135 (GRCm39)	P542H	possibly damaging	Het
Pcdha5	C	A	18: 37,095,510 (GRCm39)	P673Q	probably benign	Het
Pon1	A	G	6: 5,185,314 (GRCm39)	L62P	probably damaging	Het
Prdx6	A	T	1: 161,071,860 (GRCm39)	I102N	probably damaging	Het
Prkd3	T	A	17: 79,262,140 (GRCm39)	I725F	possibly damaging	Het
Selenon	T	C	4: 134,269,749 (GRCm39)	N395S	probably benign	Het
Serpinb8	G	A	1: 107,533,616 (GRCm39)	E224K	probably benign	Het
Serpinb9b	A	G	13: 33,213,496 (GRCm39)	M18V	probably benign	Het
Smc6	A	G	12: 11,335,400 (GRCm39)	E318G	possibly damaging	Het
Srrt	A	T	5: 137,294,549 (GRCm39)	Y786N	probably damaging	Het
Stk36	G	T	1: 74,644,615 (GRCm39)		probably null	Het
Stpg1	T	A	4: 135,252,786 (GRCm39)	L179Q	possibly damaging	Het
Stra8	G	A	6: 34,907,885 (GRCm39)	M1I	probably null	Het
Tiam1	G	T	16: 89,681,753 (GRCm39)	H408Q	possibly damaging	Het
Tm2d1	G	A	4: 98,253,855 (GRCm39)	T106I	probably damaging	Het
Tmem150b	A	C	7: 4,719,368 (GRCm39)	I184S	probably null	Het
Vmn1r216	A	G	13: 23,284,081 (GRCm39)	I255V	probably benign	Het
Vps13b	G	A	15: 35,533,531 (GRCm39)	A868T	probably damaging	Het
Wdr81	C	T	11: 75,341,620 (GRCm39)	D1216N	probably null	Het
Zfp26	T	C	9: 20,349,535 (GRCm39)	Y343C	possibly damaging	Het
Zfp276	A	T	8: 123,982,520 (GRCm39)	I95F	probably damaging	Het
Zfp330	T	C	8: 83,490,865 (GRCm39)	E315G	probably benign	Het
Zfp683	C	A	4: 133,781,862 (GRCm39)	P56Q	probably damaging	Het
Zpld1	T	A	16: 55,052,646 (GRCm39)	S323C	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
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
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'- CCTATCCAATAGAAATGAACCGTG -3'
(R):5'- GGTTGTAGAAACGCGCTTG -3'

Sequencing Primer
(F):5'- TGTCCCTCCCCCAATGAGAG -3'
(R):5'- TTGCGCATAGGGACACG -3'

Posted On

2016-09-01