Incidental Mutation 'IGL03181:Hnrnpk'
ID 412219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpk
Ensembl Gene ENSMUSG00000021546
Gene Name heterogeneous nuclear ribonucleoprotein K
Synonyms Hnrpk, KBBP, hnRNPK
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # IGL03181
Quality Score
Status
Chromosome 13
Chromosomal Location 58538956-58551157 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58542130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 265 (D265E)
Ref Sequence ENSEMBL: ENSMUSP00000135833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043269] [ENSMUST00000116403] [ENSMUST00000175847] [ENSMUST00000176207] [ENSMUST00000177019] [ENSMUST00000176558] [ENSMUST00000176849] [ENSMUST00000176305] [ENSMUST00000177497] [ENSMUST00000177060] [ENSMUST00000224030] [ENSMUST00000224342] [ENSMUST00000224182] [ENSMUST00000224836] [ENSMUST00000225674] [ENSMUST00000224524] [ENSMUST00000177117] [ENSMUST00000225031] [ENSMUST00000225176]
AlphaFold P61979
Predicted Effect probably benign
Transcript: ENSMUST00000043269
AA Change: D334E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000039269
Gene: ENSMUSG00000021546
AA Change: D334E

DomainStartEndE-ValueType
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: D334E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112104
Gene: ENSMUSG00000021546
AA Change: D334E

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: D310E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000135354
Gene: ENSMUSG00000021546
AA Change: D310E

DomainStartEndE-ValueType
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: ENSMUST00000177019
AA Change: D310E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135647
Gene: ENSMUSG00000021546
AA Change: D310E

DomainStartEndE-ValueType
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: D130E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176359
Predicted Effect probably benign
Transcript: ENSMUST00000176558
SMART Domains Protein: ENSMUSP00000135623
Gene: ENSMUSG00000021546

DomainStartEndE-ValueType
KH 41 96 6.49e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176849
SMART Domains Protein: ENSMUSP00000135342
Gene: ENSMUSG00000021546

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
KH 41 109 4.56e-11 SMART
KH 143 214 2.66e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000177497
AA Change: D265E

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000135833
Gene: ENSMUSG00000021546
AA Change: D265E

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000177377
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225866
Predicted Effect probably benign
Transcript: ENSMUST00000177060
SMART Domains Protein: ENSMUSP00000135407
Gene: ENSMUSG00000021546

DomainStartEndE-ValueType
KH 38 106 4.56e-11 SMART
KH 116 177 2.28e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000224030
Predicted Effect probably benign
Transcript: ENSMUST00000224342
Predicted Effect probably benign
Transcript: ENSMUST00000224182
AA Change: D334E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000224836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224531
Predicted Effect probably benign
Transcript: ENSMUST00000225674
AA Change: D334E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000224524
Predicted Effect probably benign
Transcript: ENSMUST00000177117
SMART Domains Protein: ENSMUSP00000135109
Gene: ENSMUSG00000021546

DomainStartEndE-ValueType
Blast:KH 3 40 2e-18 BLAST
Pfam:KH_1 53 87 2.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225031
Predicted Effect probably benign
Transcript: ENSMUST00000225176
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Hnrnpk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Hnrnpk APN 13 58,543,111 (GRCm39) splice site probably benign
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
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
Posted On 2016-08-02