Mutagenetix > Incidental Mutation

Incidental Mutation 'R6188:Hnrnpk'

502328

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

044328-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R6188 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58541967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 339 (F339L)

Ref Sequence

ENSEMBL: ENSMUSP00000152935 (fasta)

Gene Model

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

AlphaFold

P61979

Predicted Effect

probably benign
Transcript: ENSMUST00000043269
AA Change: F339L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: F339L

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
AA Change: F339L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: F339L

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
AA Change: F315L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: F315L

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 benign
Transcript: ENSMUST00000177019
AA Change: F315L

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: F315L

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

unknown
Transcript: ENSMUST00000176797
AA Change: F135L

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

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

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

noncoding transcript
Transcript: ENSMUST00000176725

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: 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: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

probably benign
Transcript: ENSMUST00000177497
AA Change: F270L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546
AA Change: F270L

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: ENSMUST00000224182
AA Change: F339L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000225674
AA Change: F339L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000224342

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

probably benign
Transcript: ENSMUST00000224524

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably benign
Transcript: ENSMUST00000224030

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

probably benign
Transcript: ENSMUST00000225176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

98% (61/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,331,850 (GRCm39)	I88F	possibly damaging	Het
4930407I10Rik	T	C	15: 81,943,471 (GRCm39)	S28P	probably benign	Het
a	A	T	2: 154,889,602 (GRCm39)	N56I	probably damaging	Het
Apoe	C	A	7: 19,432,305 (GRCm39)		probably benign	Het
Aspm	C	A	1: 139,406,977 (GRCm39)	R1955S	possibly damaging	Het
Boc	G	A	16: 44,319,911 (GRCm39)	L358F	possibly damaging	Het
Cadm2	A	T	16: 66,612,195 (GRCm39)		probably null	Het
Ccdc183	T	C	2: 25,499,764 (GRCm39)	E384G	probably benign	Het
Ccl12	A	G	11: 81,993,943 (GRCm39)	T67A	probably damaging	Het
Cep120	T	C	18: 53,857,529 (GRCm39)	D312G	probably benign	Het
Cmya5	A	G	13: 93,229,952 (GRCm39)	V1712A	possibly damaging	Het
Cmya5	A	G	13: 93,233,784 (GRCm39)	S435P	possibly damaging	Het
Dmbt1	A	T	7: 130,699,361 (GRCm39)	N997Y	probably damaging	Het
Dock2	T	A	11: 34,453,396 (GRCm39)	I86F	probably damaging	Het
Duox1	A	G	2: 122,150,275 (GRCm39)	Q168R	probably benign	Het
Epb41l4a	T	A	18: 33,965,718 (GRCm39)	I370L	probably benign	Het
Erc2	T	A	14: 28,039,208 (GRCm39)	D950E	probably damaging	Het
Exoc6b	A	G	6: 84,832,479 (GRCm39)	V405A	probably damaging	Het
F13a1	T	C	13: 37,209,752 (GRCm39)	D71G	probably benign	Het
Fam151a	A	T	4: 106,602,696 (GRCm39)	Y205F	possibly damaging	Het
Fcnb	C	A	2: 27,969,202 (GRCm39)	R165M	possibly damaging	Het
Fndc3a	C	T	14: 72,827,401 (GRCm39)	V50I	probably damaging	Het
Gm13276	C	T	4: 88,704,096 (GRCm39)	Q51*	probably null	Het
Grik1	T	C	16: 87,852,959 (GRCm39)	T75A	probably benign	Het
Grip2	A	G	6: 91,740,514 (GRCm39)	L1015P	probably damaging	Het
Iqgap3	A	G	3: 88,006,200 (GRCm39)	D537G	probably benign	Het
Kars1	C	T	8: 112,735,113 (GRCm39)		probably null	Het
Kpna7	G	T	5: 144,929,654 (GRCm39)	N390K	probably damaging	Het
Krt36	A	T	11: 99,993,246 (GRCm39)	S410T	probably benign	Het
Lingo4	A	G	3: 94,310,157 (GRCm39)	E365G	probably damaging	Het
Liph	T	C	16: 21,803,018 (GRCm39)	D17G	probably benign	Het
Lmbrd1	C	A	1: 24,750,626 (GRCm39)	N166K	probably benign	Het
Lypd9	T	C	11: 58,337,182 (GRCm39)	E97G	probably benign	Het
Nup155	T	C	15: 8,139,059 (GRCm39)	S44P	probably damaging	Het
Or2m12	A	G	16: 19,105,307 (GRCm39)	M62T	probably damaging	Het
Or4a72	A	T	2: 89,405,538 (GRCm39)	C177*	probably null	Het
Or5a3	A	G	19: 12,399,974 (GRCm39)	I100M	probably benign	Het
Pcdhga6	T	C	18: 37,841,324 (GRCm39)	V348A	probably benign	Het
Phc3	G	A	3: 30,991,198 (GRCm39)	Q295*	probably null	Het
Phyh	A	G	2: 4,932,301 (GRCm39)	E129G	probably damaging	Het
Polb	A	G	8: 23,137,463 (GRCm39)	S96P	probably damaging	Het
Ppp1r9a	A	T	6: 5,158,113 (GRCm39)	K1174*	probably null	Het
Ppp1r9b	C	T	11: 94,882,662 (GRCm39)	R97W	probably damaging	Het
Pttg1ip	T	C	10: 77,418,342 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,447,967 (GRCm39)		probably null	Het
Rgs20	GGAGAGAG	GGAGAG	1: 5,091,106 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,027,963 (GRCm39)	H111R	probably damaging	Het
Rmdn3	A	G	2: 118,969,831 (GRCm39)		probably null	Het
Ror2	T	A	13: 53,265,347 (GRCm39)	T570S	probably damaging	Het
Sel1l3	A	C	5: 53,313,061 (GRCm39)	I542R	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,237 (GRCm39)	F284L	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc38a2	A	G	15: 96,590,397 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,724,784 (GRCm39)	Y132F	probably damaging	Het
Spata31h1	A	G	10: 82,121,091 (GRCm39)	I3973T	probably damaging	Het
Tet2	T	C	3: 133,186,087 (GRCm39)	S1117G	probably benign	Het
Trav15-1-dv6-1	C	T	14: 53,797,414 (GRCm39)	A21V	probably damaging	Het
Tsr3	G	T	17: 25,460,835 (GRCm39)	D234Y	probably null	Het
Vmn1r220	A	T	13: 23,368,084 (GRCm39)	L204H	probably damaging	Het
Vmn1r3	A	T	4: 3,185,017 (GRCm39)	S97T	probably damaging	Het
Zfp599	A	G	9: 22,161,286 (GRCm39)	F293S	probably damaging	Het
Zfp983	A	G	17: 21,877,935 (GRCm39)	Y46C	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
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
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'- CCCATACCCAGTTTATCCAGG -3'
(R):5'- GTGCTTGCAGAGATCTAATGGC -3'

Sequencing Primer
(F):5'- ATACCCAGTTTATCCAGGAAATAAAC -3'
(R):5'- CTTGCAGAGATCTAATGGCTTATGAC -3'

Posted On

2018-02-27