Mutagenetix > Incidental Mutation

Incidental Mutation 'R1690:Hnrnpk'

191731

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpk

Ensembl Gene

ENSMUSG00000021546

Gene Name

heterogeneous nuclear ribonucleoprotein K

Synonyms

Hnrpk, KBBP, hnRNPK

MMRRC Submission

039723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

R1690 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58538956-58551157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58548168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 13 (T13S)

Ref Sequence

ENSEMBL: ENSMUSP00000153651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042450] [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000176558] [ENSMUST00000176849] [ENSMUST00000176305] [ENSMUST00000177060] [ENSMUST00000177019] [ENSMUST00000223822] [ENSMUST00000224182] [ENSMUST00000224030] [ENSMUST00000177497] [ENSMUST00000177117] [ENSMUST00000225031] [ENSMUST00000224524] [ENSMUST00000224836] [ENSMUST00000225674] [ENSMUST00000225176] [ENSMUST00000224342] [ENSMUST00000225815] [ENSMUST00000225828] [ENSMUST00000224479]

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
AA Change: T13S

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

SMART Domains

Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: T13S

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: ENSMUST00000116403
AA Change: T13S

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

SMART Domains

Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: T13S

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
AA Change: T13S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134837
Gene: ENSMUSG00000021546
AA Change: T13S

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: T13S

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: T13S

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: ENSMUST00000176269

Predicted Effect

probably benign
Transcript: ENSMUST00000176558
AA Change: T13S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546
AA Change: T13S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176849
AA Change: T13S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546
AA Change: T13S

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
AA Change: T13S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135305
Gene: ENSMUSG00000021546
AA Change: T13S

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
AA Change: T13S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546
AA Change: T13S

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
AA Change: T13S

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: T13S

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: ENSMUST00000176609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177377

Predicted Effect

probably benign
Transcript: ENSMUST00000223822
AA Change: T13S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224182
AA Change: T13S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224030
AA Change: T13S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

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: 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: ENSMUST00000225031
AA Change: T13S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000224524
AA Change: T13S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000224836
AA Change: T13S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000225674
AA Change: T13S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225176
AA Change: T13S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000224342
AA Change: T13S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000225815

Predicted Effect

probably benign
Transcript: ENSMUST00000225828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224758

Predicted Effect

probably benign
Transcript: ENSMUST00000224479

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,610,950 (GRCm39)	S263P	probably damaging	Het
Adcy10	A	G	1: 165,347,494 (GRCm39)	E403G	probably damaging	Het
Adgrg7	A	T	16: 56,615,993 (GRCm39)	V11E	probably damaging	Het
Arhgap35	A	G	7: 16,297,206 (GRCm39)	C620R	probably damaging	Het
Cfap43	A	G	19: 47,739,505 (GRCm39)		probably null	Het
Cfap54	A	G	10: 92,871,304 (GRCm39)	S639P	possibly damaging	Het
Csf2rb	T	C	15: 78,232,844 (GRCm39)	V717A	probably benign	Het
D17H6S53E	A	G	17: 35,346,188 (GRCm39)	D33G	possibly damaging	Het
Dpf2	C	T	19: 5,955,490 (GRCm39)	R131Q	probably damaging	Het
Dtx3l	C	T	16: 35,753,638 (GRCm39)	A323T	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgf15	A	G	7: 144,453,665 (GRCm39)	S213G	probably damaging	Het
Fmn1	T	A	2: 113,355,827 (GRCm39)	F756Y	unknown	Het
Htr3b	T	A	9: 48,848,394 (GRCm39)	M284L	possibly damaging	Het
Itgal	T	C	7: 126,901,289 (GRCm39)	M225T	possibly damaging	Het
Lipi	A	G	16: 75,338,013 (GRCm39)	Y454H	probably damaging	Het
Lrit3	T	C	3: 129,594,394 (GRCm39)	K61R	probably damaging	Het
Lta4h	A	G	10: 93,320,554 (GRCm39)	D583G	probably benign	Het
Mettl17	T	A	14: 52,128,918 (GRCm39)	V396D	probably damaging	Het
Nlrc4	G	A	17: 74,744,518 (GRCm39)	R788*	probably null	Het
Or8k25	T	A	2: 86,244,298 (GRCm39)	I33F	probably benign	Het
Pepd	G	A	7: 34,730,782 (GRCm39)	G278D	probably damaging	Het
Pramel23	T	C	4: 143,424,693 (GRCm39)	E250G	probably benign	Het
Prkcsh	T	A	9: 21,921,871 (GRCm39)	D245E	probably damaging	Het
Prlr	A	T	15: 10,317,676 (GRCm39)	D84V	probably damaging	Het
Pth2r	C	T	1: 65,411,462 (GRCm39)	T333I	probably benign	Het
Ptk2	T	A	15: 73,134,459 (GRCm39)	I547F	probably damaging	Het
Rab11fip2	A	T	19: 59,925,732 (GRCm39)	S162T	probably damaging	Het
Rnf41	C	A	10: 128,271,329 (GRCm39)	Q80K	possibly damaging	Het
Scn7a	T	G	2: 66,506,287 (GRCm39)	D1534A	probably damaging	Het
Septin12	A	G	16: 4,806,378 (GRCm39)	V261A	probably damaging	Het
Sh2d4a	T	C	8: 68,747,101 (GRCm39)	S110P	probably benign	Het
Soat1	A	T	1: 156,272,144 (GRCm39)	S114T	probably benign	Het
Taar8a	A	G	10: 23,952,813 (GRCm39)	Y139C	probably damaging	Het
Tcf12	A	G	9: 71,777,354 (GRCm39)		probably null	Het
Tmem202	T	A	9: 59,426,391 (GRCm39)	R258S	possibly damaging	Het
Ttc39b	A	T	4: 83,145,414 (GRCm39)	I604N	probably damaging	Het
Vit	A	G	17: 78,932,294 (GRCm39)	D467G	probably damaging	Het
Zc3hc1	A	G	6: 30,390,940 (GRCm39)	V21A	probably damaging	Het
Zfp608	T	A	18: 55,120,706 (GRCm39)	I294F	possibly damaging	Het
Zfp825	T	A	13: 74,628,781 (GRCm39)	H227L	probably benign	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
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'- TCCAGAGCCAAAGCAGAGTTCAAAG -3'
(R):5'- CTGTAGCACTAGGATGTCACTTGTGTG -3'

Sequencing Primer
(F):5'- CTTGCTCTGAAGCAAAATGCG -3'
(R):5'- TGTGCTGGAAGCAGAATCC -3'

Posted On

2014-05-14