Mutagenetix > Incidental Mutation

Incidental Mutation 'R1131:Hnrnpk'

94648

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

039204-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R1131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 58541979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000177019] [ENSMUST00000177060] [ENSMUST00000177117] [ENSMUST00000176849] [ENSMUST00000176305] [ENSMUST00000176558] [ENSMUST00000177497] [ENSMUST00000225674] [ENSMUST00000224182] [ENSMUST00000224342] [ENSMUST00000224836] [ENSMUST00000225176] [ENSMUST00000224524] [ENSMUST00000225031] [ENSMUST00000224030]

AlphaFold

P61979

Predicted Effect

probably null
Transcript: ENSMUST00000043269

SMART Domains

Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART
low complexity region	252	279	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
KH	386	456	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083500

Predicted Effect

probably null
Transcript: ENSMUST00000116403

SMART Domains

Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART
low complexity region	252	279	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	307	315	N/A	INTRINSIC
low complexity region	323	335	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
KH	386	456	3.12e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000175847

SMART Domains

Protein: ENSMUSP00000134837
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
Pfam:ROKNT	1	43	7.6e-24	PFAM
Pfam:KH_4	21	70	1.4e-9	PFAM
Pfam:KH_2	25	74	4.4e-7	PFAM
Pfam:KH_1	44	72	3.5e-8	PFAM
Pfam:KH_3	54	73	9.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175939

Predicted Effect

probably null
Transcript: ENSMUST00000176207

SMART Domains

Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC
low complexity region	299	311	N/A	INTRINSIC
low complexity region	341	357	N/A	INTRINSIC
KH	362	432	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176257

Predicted Effect

probably null
Transcript: ENSMUST00000176797

Predicted Effect

probably null
Transcript: ENSMUST00000177019

SMART Domains

Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC
low complexity region	299	311	N/A	INTRINSIC
low complexity region	341	357	N/A	INTRINSIC
KH	362	432	3.12e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

probably benign
Transcript: ENSMUST00000177060

SMART Domains

Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	38	106	4.56e-11	SMART
KH	116	177	2.28e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177117

SMART Domains

Protein: ENSMUSP00000135109
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
Blast:KH	3	40	2e-18	BLAST
Pfam:KH_1	53	87	2.2e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176849

SMART Domains

Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	119	190	2.66e-12	SMART
low complexity region	228	255	N/A	INTRINSIC
low complexity region	261	277	N/A	INTRINSIC
low complexity region	283	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176305

SMART Domains

Protein: ENSMUSP00000135305
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	109	4.56e-11	SMART
KH	143	214	2.66e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176558

SMART Domains

Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
KH	41	96	6.49e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000177497

SMART Domains

Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546

Domain	Start	End	E-Value	Type
Blast:KH	3	40	8e-16	BLAST
KH	74	145	2.66e-12	SMART
low complexity region	183	210	N/A	INTRINSIC
low complexity region	216	232	N/A	INTRINSIC
low complexity region	238	246	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC
low complexity region	296	312	N/A	INTRINSIC
KH	317	387	3.12e-18	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000225674

Predicted Effect

probably null
Transcript: ENSMUST00000224182

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

probably benign
Transcript: ENSMUST00000225176

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

probably benign
Transcript: ENSMUST00000224030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex, and is a poly-cytosine binding protein (PCBP). It is found in multiple subcellular compartments including the nucleus, cytoplasm and mitochondria. This gene product is thought to interact with RNA, DNA, and protein, and is involved in multiple cellular processes, including transcription, chromatin remodeling, DNA damage response, signal transduction, mRNA splicing, export, and translation. Multiple transcript variants and protein isoforms exist, with some isoforms containing a unique C-terminus. There are four pseudogenes of this gene, found on chromosomes 2, 3, 7 and 13. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	G	T	3: 146,356,837 (GRCm39)	H24N	probably damaging	Het
Ano7	T	C	1: 93,329,498 (GRCm39)	F723L	probably benign	Het
Clec9a	T	G	6: 129,387,278 (GRCm39)	C44W	probably damaging	Het
Commd7	T	A	2: 153,464,047 (GRCm39)	Q44L	probably benign	Het
Ddias	A	T	7: 92,509,094 (GRCm39)	S274T	possibly damaging	Het
Fnip1	A	T	11: 54,384,129 (GRCm39)	E342V	possibly damaging	Het
Gata4	A	G	14: 63,442,189 (GRCm39)	F210S	possibly damaging	Het
Ggt6	A	G	11: 72,326,506 (GRCm39)	E21G	possibly damaging	Het
Gzf1	A	G	2: 148,532,787 (GRCm39)	N647S	probably benign	Het
Lgr6	G	A	1: 134,915,042 (GRCm39)	R569W	probably damaging	Het
Mug1	T	A	6: 121,838,144 (GRCm39)	I458N	probably benign	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Or51a25	C	A	7: 102,372,887 (GRCm39)	R270L	probably damaging	Het
Spta1	T	A	1: 174,013,213 (GRCm39)	S375T	probably damaging	Het
Tanc2	G	A	11: 105,725,828 (GRCm39)	E331K	probably damaging	Het
Tcirg1	A	G	19: 3,946,301 (GRCm39)	S799P	probably damaging	Het
Tnrc18	T	A	5: 142,772,963 (GRCm39)	D439V	unknown	Het
Tnrc6b	A	T	15: 80,778,654 (GRCm39)	Q1209L	possibly damaging	Het
Trim24	T	A	6: 37,934,717 (GRCm39)	C811S	probably damaging	Het
Ttc7b	A	T	12: 100,348,378 (GRCm39)		probably null	Het
Vmn1r42	A	T	6: 89,822,551 (GRCm39)	F6Y	possibly damaging	Het

Other mutations in Hnrnpk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Hnrnpk	APN	13	58,543,111 (GRCm39)	splice site	probably benign
IGL03181:Hnrnpk	APN	13	58,542,130 (GRCm39)	missense	possibly damaging	0.67
R0136:Hnrnpk	UTSW	13	58,542,991 (GRCm39)	missense	probably benign	0.01
R1690:Hnrnpk	UTSW	13	58,548,168 (GRCm39)	missense	probably benign	0.23
R1956:Hnrnpk	UTSW	13	58,544,000 (GRCm39)	critical splice donor site	probably null
R4525:Hnrnpk	UTSW	13	58,541,696 (GRCm39)	splice site	probably benign
R4663:Hnrnpk	UTSW	13	58,542,331 (GRCm39)	missense	probably damaging	0.98
R4754:Hnrnpk	UTSW	13	58,546,950 (GRCm39)	unclassified	probably benign
R5473:Hnrnpk	UTSW	13	58,541,913 (GRCm39)	missense	probably damaging	0.99
R5830:Hnrnpk	UTSW	13	58,545,548 (GRCm39)	nonsense	probably null
R5937:Hnrnpk	UTSW	13	58,543,016 (GRCm39)	missense	probably damaging	1.00
R5997:Hnrnpk	UTSW	13	58,546,971 (GRCm39)	missense	probably damaging	1.00
R6188:Hnrnpk	UTSW	13	58,541,967 (GRCm39)	missense	probably benign	0.11
R6461:Hnrnpk	UTSW	13	58,541,008 (GRCm39)	critical splice donor site	probably null
R7505:Hnrnpk	UTSW	13	58,547,783 (GRCm39)	missense	probably benign
R9491:Hnrnpk	UTSW	13	58,541,050 (GRCm39)	missense	probably benign	0.18
R9499:Hnrnpk	UTSW	13	58,544,058 (GRCm39)	missense	probably benign	0.31
R9551:Hnrnpk	UTSW	13	58,544,058 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GGTCCGCCAAGATCACCATATGAG -3'
(R):5'- GAGACCGCTATGATGGCATGGTAAG -3'

Sequencing Primer
(F):5'- GCCCCCTGCATAAGAATAGTCTG -3'
(R):5'- AGAATTTTGATTTATAAGGGCGGC -3'

Posted On

2014-01-05