Mutagenetix > Incidental Mutation

Incidental Mutation 'R4525:Hnrnpk'

334420

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

041767-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R4525 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 58541696 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] [ENSMUST00000176305] [ENSMUST00000177117] [ENSMUST00000176558] [ENSMUST00000176849] [ENSMUST00000177497] [ENSMUST00000225674] [ENSMUST00000224182] [ENSMUST00000224030] [ENSMUST00000224836] [ENSMUST00000224524] [ENSMUST00000225031] [ENSMUST00000225176] [ENSMUST00000224342]

AlphaFold

P61979

Predicted Effect

probably benign
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 benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

probably benign
Transcript: ENSMUST00000176797

Predicted Effect

probably benign
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: ENSMUST00000176888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

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: 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: 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: ENSMUST00000176558

SMART Domains

Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546

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

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: 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 benign
Transcript: ENSMUST00000225674

Predicted Effect

probably benign
Transcript: ENSMUST00000224182

Predicted Effect

probably benign
Transcript: ENSMUST00000224030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably benign
Transcript: ENSMUST00000225176

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

97% (32/33)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	G	2: 32,464,388 (GRCm39)		probably benign	Het
Ampd1	T	C	3: 103,002,049 (GRCm39)	V510A	probably damaging	Het
Aoc1	A	G	6: 48,883,609 (GRCm39)	Y495C	probably damaging	Het
Asap2	G	A	12: 21,279,293 (GRCm39)		probably null	Het
Cd47	T	C	16: 49,688,155 (GRCm39)	V25A	probably benign	Het
Cer1	A	G	4: 82,802,906 (GRCm39)	F139L	possibly damaging	Het
Cpne3	G	T	4: 19,523,206 (GRCm39)	P527H	probably damaging	Het
Erbin	T	C	13: 103,993,600 (GRCm39)	I347V	probably benign	Het
Gm17542	T	C	10: 58,549,435 (GRCm39)	D31G	probably null	Het
Hivep1	T	A	13: 42,309,289 (GRCm39)	C510S	probably benign	Het
Iqcf4	T	A	9: 106,447,827 (GRCm39)	Q27H	possibly damaging	Het
Kcna4	C	A	2: 107,125,410 (GRCm39)	T48K	possibly damaging	Het
Loxhd1	T	A	18: 77,444,608 (GRCm39)	C336S	probably damaging	Het
Ltbp3	A	G	19: 5,796,387 (GRCm39)	T306A	probably benign	Het
Oplah	G	T	15: 76,189,709 (GRCm39)	L176M	probably damaging	Het
Pon1	T	C	6: 5,177,412 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,966 (GRCm39)	I3932T	probably damaging	Het
Shank1	A	T	7: 44,004,014 (GRCm39)	H1902L	possibly damaging	Het
Sipa1	T	A	19: 5,701,985 (GRCm39)	Q947L	probably benign	Het
Slit2	G	T	5: 48,407,215 (GRCm39)	C882F	probably damaging	Het
Speer4a1	A	T	5: 26,244,341 (GRCm39)		probably null	Het
Spta1	A	G	1: 174,034,676 (GRCm39)	D1035G	probably null	Het
Tas2r140	T	C	6: 133,032,207 (GRCm39)	T184A	possibly damaging	Het
Timm10b	A	G	7: 105,332,013 (GRCm39)	N828S	probably benign	Het
Tmem161b	T	C	13: 84,405,921 (GRCm39)	I50T	probably benign	Het
Tnpo3	T	C	6: 29,561,397 (GRCm39)	N628D	probably benign	Het
Tnrc6a	A	G	7: 122,779,005 (GRCm39)	T102A	probably benign	Het
Vmn2r70	A	T	7: 85,208,787 (GRCm39)	N563K	probably 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
R1131:Hnrnpk	UTSW	13	58,541,979 (GRCm39)	splice site	probably null
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
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'- TTGTGTAGTGATAATAGGTCCGCC -3'
(R):5'- CACATGGAGCCCATCAGAATG -3'

Sequencing Primer
(F):5'- TGATAATAGGTCCGCCAAGATC -3'
(R):5'- GGCTTATGAACCACAGGTTGAGTATC -3'

Posted On

2015-08-18