Mutagenetix > Incidental Mutation

Incidental Mutation 'R1956:Hnrnpk'

217837

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

039970-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R1956 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 58544000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152935 (fasta)

Gene Model

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

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 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

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176888

Predicted Effect

probably benign
Transcript: ENSMUST00000176797

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: 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: 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 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: ENSMUST00000224524

Predicted Effect

probably null
Transcript: ENSMUST00000225674

Predicted Effect

probably null
Transcript: ENSMUST00000224342

Predicted Effect

probably null
Transcript: ENSMUST00000224182

Predicted Effect

probably benign
Transcript: ENSMUST00000225031

Predicted Effect

probably null
Transcript: ENSMUST00000225176

Predicted Effect

probably null
Transcript: ENSMUST00000224030

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224782

Predicted Effect

probably benign
Transcript: ENSMUST00000224836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225866

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226015

Predicted Effect

probably benign
Transcript: ENSMUST00000223822

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,908,316 (GRCm39)	D157V	probably damaging	Het
Abcg5	A	G	17: 84,977,803 (GRCm39)	V151A	probably damaging	Het
Acss3	A	G	10: 106,772,029 (GRCm39)	V682A	probably benign	Het
Adamts9	A	T	6: 92,836,830 (GRCm39)	C641S	probably damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Ankrd27	T	A	7: 35,303,264 (GRCm39)	Y215N	probably damaging	Het
Arhgef7	T	A	8: 11,855,266 (GRCm39)	L182Q	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arrdc4	T	C	7: 68,391,547 (GRCm39)	K240R	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
Atp13a2	A	G	4: 140,731,572 (GRCm39)	K907R	possibly damaging	Het
Cadps2	A	T	6: 23,287,685 (GRCm39)	M1160K	probably damaging	Het
Cdk12	A	G	11: 98,110,042 (GRCm39)	T688A	probably benign	Het
Cfap43	T	A	19: 47,885,649 (GRCm39)	Y322F	probably benign	Het
Crabp2	T	C	3: 87,856,193 (GRCm39)	F16L	probably damaging	Het
Creb3	A	G	4: 43,563,279 (GRCm39)		probably null	Het
Crk	T	C	11: 75,583,496 (GRCm39)	Y239H	possibly damaging	Het
Cyp3a13	A	G	5: 137,908,204 (GRCm39)	I215T	probably benign	Het
D130043K22Rik	A	G	13: 25,069,578 (GRCm39)	Y879C	probably damaging	Het
Depdc5	T	C	5: 33,061,175 (GRCm39)	V334A	probably damaging	Het
Dgkh	T	C	14: 78,855,981 (GRCm39)	N231S	probably damaging	Het
Disp2	T	A	2: 118,622,704 (GRCm39)	H1145Q	probably benign	Het
Epb41l4b	T	C	4: 57,038,553 (GRCm39)	T563A	possibly damaging	Het
Ephb3	G	A	16: 21,040,132 (GRCm39)	R498H	probably damaging	Het
F10	T	C	8: 13,105,422 (GRCm39)	I329T	probably damaging	Het
Fam13b	G	T	18: 34,578,382 (GRCm39)	Q760K	possibly damaging	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fpr-rs4	A	G	17: 18,242,518 (GRCm39)	Y175C	probably damaging	Het
Fzd8	T	A	18: 9,214,502 (GRCm39)	M528K	probably damaging	Het
Gcc2	A	G	10: 58,121,965 (GRCm39)	H1134R	possibly damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Ggn	T	A	7: 28,871,341 (GRCm39)	S240R	probably damaging	Het
Git2	C	T	5: 114,887,398 (GRCm39)	W299*	probably null	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5134	T	C	10: 75,840,680 (GRCm39)	F508S	possibly damaging	Het
Gm9923	G	T	10: 72,145,490 (GRCm39)	V114L	probably benign	Het
Has3	A	T	8: 107,605,435 (GRCm39)	Y547F	probably benign	Het
Heatr5a	A	G	12: 51,992,202 (GRCm39)		probably null	Het
Ifna4	A	T	4: 88,760,311 (GRCm39)	I72F	probably damaging	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Kmt2d	A	G	15: 98,757,471 (GRCm39)		probably benign	Het
Lrrc69	A	G	4: 14,665,986 (GRCm39)	V324A	possibly damaging	Het
Mefv	T	C	16: 3,535,691 (GRCm39)	Q79R	probably damaging	Het
Mettl17	T	C	14: 52,126,254 (GRCm39)	S168P	probably damaging	Het
Mpp4	A	T	1: 59,197,811 (GRCm39)	S23T	probably benign	Het
Nabp1	A	T	1: 51,517,004 (GRCm39)	V24D	probably damaging	Het
Nod2	T	A	8: 89,390,836 (GRCm39)	F359Y	probably damaging	Het
Or10g1b	C	T	14: 52,628,037 (GRCm39)	M64I	probably benign	Het
Or1p1c	A	T	11: 74,160,670 (GRCm39)	T152S	probably damaging	Het
Or51b17	T	G	7: 103,542,925 (GRCm39)	S6R	probably benign	Het
Or52d3	C	A	7: 104,229,116 (GRCm39)	L88M	probably damaging	Het
Or5ak4	T	C	2: 85,161,444 (GRCm39)	D266G	probably benign	Het
Or5b107	T	C	19: 13,142,560 (GRCm39)	Y61H	probably damaging	Het
Or6a2	C	T	7: 106,600,342 (GRCm39)	A242T	probably damaging	Het
Or7a39	A	G	10: 78,715,267 (GRCm39)	Q87R	probably benign	Het
Pcdh18	T	C	3: 49,710,400 (GRCm39)	H305R	probably benign	Het
Phf1	T	A	17: 27,154,719 (GRCm39)		probably null	Het
Pold3	T	C	7: 99,737,318 (GRCm39)	K379R	probably benign	Het
Polr1f	T	A	12: 33,487,817 (GRCm39)	V244D	probably benign	Het
Pou2f3	T	A	9: 43,056,534 (GRCm39)	T108S	probably benign	Het
Prdm5	C	A	6: 65,913,060 (GRCm39)	T203K	probably damaging	Het
Psma5	A	G	3: 108,173,760 (GRCm39)	S79G	probably benign	Het
Psme4	T	A	11: 30,782,424 (GRCm39)	S889T	probably damaging	Het
Ptk2	A	T	15: 73,087,832 (GRCm39)	V902D	possibly damaging	Het
Rad54l	T	A	4: 115,967,554 (GRCm39)	I243F	probably damaging	Het
Ralgapa2	A	G	2: 146,302,679 (GRCm39)	F95L	probably benign	Het
Rassf6	G	A	5: 90,763,730 (GRCm39)	Q71*	probably null	Het
Ryr2	A	T	13: 11,695,966 (GRCm39)	L2967H	probably damaging	Het
Scn5a	T	C	9: 119,346,479 (GRCm39)	T1058A	possibly damaging	Het
Sdk1	T	C	5: 142,080,336 (GRCm39)	L1276P	probably damaging	Het
Serpina12	T	G	12: 104,002,048 (GRCm39)	T223P	probably damaging	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Spata31g1	A	T	4: 42,970,105 (GRCm39)		probably null	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stam2	T	C	2: 52,598,239 (GRCm39)		probably null	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Tbata	G	A	10: 61,019,256 (GRCm39)	D271N	probably damaging	Het
Tbx3	T	C	5: 119,819,018 (GRCm39)	V531A	probably benign	Het
Tektl1	A	G	10: 78,586,373 (GRCm39)		probably null	Het
Thra	T	A	11: 98,654,567 (GRCm39)	D312E	probably benign	Het
Tlr1	T	A	5: 65,082,520 (GRCm39)	I686F	probably damaging	Het
Tmem86b	A	T	7: 4,631,706 (GRCm39)	F115L	probably benign	Het
Tmem94	A	G	11: 115,679,500 (GRCm39)	D259G	possibly damaging	Het
Trim69	G	A	2: 122,004,956 (GRCm39)		probably null	Het
Usp43	T	A	11: 67,795,159 (GRCm39)	Q243L	probably damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn2r104	A	T	17: 20,262,313 (GRCm39)	N272K	probably damaging	Het
Vmn2r26	G	A	6: 124,030,846 (GRCm39)	C527Y	probably damaging	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Vps13b	A	T	15: 35,869,553 (GRCm39)	I2686F	probably damaging	Het
Vps8	C	T	16: 21,279,892 (GRCm39)	T281M	probably damaging	Het
Wdfy3	A	G	5: 102,067,275 (GRCm39)	V1219A	probably benign	Het
Wnt9b	A	G	11: 103,621,638 (GRCm39)	C340R	probably damaging	Het
Zfhx3	T	C	8: 109,520,774 (GRCm39)	V632A	probably benign	Het
Zfp1006	A	T	8: 129,948,309 (GRCm39)	D41E	possibly damaging	Het
Zfp341	A	T	2: 154,480,132 (GRCm39)	T528S	probably benign	Het
Zfp990	G	A	4: 145,261,452 (GRCm39)	A33T	probably damaging	Het
Zranb1	T	G	7: 132,584,458 (GRCm39)	S601R	probably damaging	Het
Zyx	A	T	6: 42,328,289 (GRCm39)	K166I	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
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'- AATTCCCACTGCAGCATGG -3'
(R):5'- CATTTACTGGGTATATGGAGAAAGG -3'

Sequencing Primer
(F):5'- CATGGAGCAGGGTCAACAGTG -3'
(R):5'- CTGGGTATATGGAGAAAGGATTTTAC -3'

Posted On

2014-08-01