Mutagenetix > Incidental Mutation

Incidental Mutation 'R5830:Hnrnpk'

449282

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

043219-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R5830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58545548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 92 (Y92*)

Ref Sequence

ENSEMBL: ENSMUSP00000135623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042450] [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000176558] [ENSMUST00000177019] [ENSMUST00000176849] [ENSMUST00000177117] [ENSMUST00000176305] [ENSMUST00000177060] [ENSMUST00000225815] [ENSMUST00000225031] [ENSMUST00000225176] [ENSMUST00000224342] [ENSMUST00000225828] [ENSMUST00000223822] [ENSMUST00000224524] [ENSMUST00000224836] [ENSMUST00000224182] [ENSMUST00000225674] [ENSMUST00000177497] [ENSMUST00000224030]

AlphaFold

P61979

Predicted Effect

probably benign
Transcript: ENSMUST00000042450

SMART Domains

Protein: ENSMUSP00000041035
Gene: ENSMUSG00000035367

Domain	Start	End	E-Value	Type
DUF1767	11	104	1.62e-34	SMART
low complexity region	243	259	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC
Pfam:RMI1_C	479	614	4.2e-45	PFAM

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

probably null
Transcript: ENSMUST00000176558
AA Change: Y92*

SMART Domains

Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546
AA Change: Y92*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

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

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: ENSMUST00000176797

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

probably benign
Transcript: ENSMUST00000225815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably benign
Transcript: ENSMUST00000225176

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Predicted Effect

probably benign
Transcript: ENSMUST00000225828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

probably benign
Transcript: ENSMUST00000223822

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

probably benign
Transcript: ENSMUST00000224182

Predicted Effect

probably benign
Transcript: ENSMUST00000225674

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: ENSMUST00000224030

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.6%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apobec3	A	T	15: 79,783,268 (GRCm39)	N115I	possibly damaging	Het
Arl14ep	T	C	2: 106,799,539 (GRCm39)	S101G	possibly damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
Ccdc40	C	A	11: 119,133,572 (GRCm39)	H571N	probably benign	Het
Cdc42bpb	G	A	12: 111,312,016 (GRCm39)	R99*	probably null	Het
Cdyl2	A	G	8: 117,321,823 (GRCm39)	Y235H	probably benign	Het
Chmp2a	T	C	7: 12,766,039 (GRCm39)	D161G	probably damaging	Het
Ep400	A	T	5: 110,831,862 (GRCm39)	W2091R	unknown	Het
Epha8	G	A	4: 136,663,701 (GRCm39)	Q452*	probably null	Het
Fbn2	A	G	18: 58,247,541 (GRCm39)	F451S	probably benign	Het
Fndc1	C	A	17: 8,007,918 (GRCm39)	R72L	possibly damaging	Het
Gfpt2	A	G	11: 49,699,888 (GRCm39)	E81G	probably benign	Het
Gpr155	A	G	2: 73,200,433 (GRCm39)	V358A	possibly damaging	Het
Il34	A	G	8: 111,475,323 (GRCm39)	V71A	probably damaging	Het
Inpp5e	A	G	2: 26,290,427 (GRCm39)	F416L	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kdsr	A	G	1: 106,675,262 (GRCm39)	S125P	possibly damaging	Het
Ldb1	T	A	19: 46,022,557 (GRCm39)	M307L	probably benign	Het
Lrr1	T	A	12: 69,225,445 (GRCm39)	S374T	possibly damaging	Het
Mtmr2	A	G	9: 13,713,274 (GRCm39)	I412V	probably benign	Het
Ncor1	T	C	11: 62,235,589 (GRCm39)	I298V	possibly damaging	Het
Ndst1	A	G	18: 60,836,910 (GRCm39)	F384L	probably damaging	Het
Nlrc5	A	G	8: 95,199,542 (GRCm39)	E51G	probably damaging	Het
Obox6	G	A	7: 15,568,382 (GRCm39)	H165Y	possibly damaging	Het
Or5k17	T	A	16: 58,746,457 (GRCm39)	H159L	possibly damaging	Het
Pde8b	A	T	13: 95,178,398 (GRCm39)	F582Y	probably benign	Het
Pik3r4	C	A	9: 105,522,023 (GRCm39)	Y196*	probably null	Het
Pink1	A	T	4: 138,043,325 (GRCm39)	M1K	probably null	Het
Scn7a	A	T	2: 66,544,395 (GRCm39)	Y365*	probably null	Het
Sec16a	A	T	2: 26,330,853 (GRCm39)	D387E	probably benign	Het
Sel1l	A	T	12: 91,799,945 (GRCm39)	F127Y	probably damaging	Het
Syt7	T	A	19: 10,399,151 (GRCm39)	N82K	probably damaging	Het
Zfp358	G	T	8: 3,545,846 (GRCm39)	V143L	probably benign	Het
Zkscan2	T	C	7: 123,079,323 (GRCm39)	N878S	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
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
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
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'- ATGCAACACTTGAAGCTGTGC -3'
(R):5'- TGAAAACCCTGGTTGGCTATGC -3'

Sequencing Primer
(F):5'- AACACTTGAAGCTGTGCTCCTTC -3'
(R):5'- GCCCAAAAATGTGCTCGTTG -3'

Posted On

2016-12-20