Incidental Mutation 'IGL02387:Vrk1'
ID291597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vrk1
Ensembl Gene ENSMUSG00000021115
Gene Namevaccinia related kinase 1
Synonyms51PK
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.862) question?
Stock #IGL02387
Quality Score
Status
Chromosome12
Chromosomal Location106010228-106077426 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 106070544 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 363 (E363G)
Ref Sequence ENSEMBL: ENSMUSP00000152721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021539] [ENSMUST00000072040] [ENSMUST00000085026] [ENSMUST00000220629] [ENSMUST00000221312]
Predicted Effect probably damaging
Transcript: ENSMUST00000021539
AA Change: E363G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: E363G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 37 222 4.5e-10 PFAM
Pfam:Pkinase 37 316 2.4e-16 PFAM
low complexity region 354 366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000072040
AA Change: E363G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: E363G

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 37 296 8.9e-11 PFAM
Pfam:Pkinase 37 323 1.9e-19 PFAM
low complexity region 354 366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000085026
AA Change: E363G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: E363G

DomainStartEndE-ValueType
Pfam:Pkinase 37 323 8e-19 PFAM
Pfam:Pkinase_Tyr 37 324 3.5e-10 PFAM
low complexity region 354 366 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000220629
AA Change: E363G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000221312
AA Change: E363G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene trap allele yielding nearly full-length protein levels are fertile and overtly normal. Homozygotes for a hypomorphic gene trap allele are sterile; male infertility is due to progressive loss of proliferating spermatogonia leading to lack of meiotic cells and mature sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,078,815 probably benign Het
Acap3 T G 4: 155,902,160 L311R probably damaging Het
Actr6 T A 10: 89,714,984 N316I probably damaging Het
Adarb2 T A 13: 8,569,958 V160E probably damaging Het
Atm A T 9: 53,479,766 probably null Het
Atp2b4 T C 1: 133,731,889 N445S probably damaging Het
Clic6 A G 16: 92,529,919 D464G probably damaging Het
Clk2 C T 3: 89,176,391 probably benign Het
Cyp4f40 A C 17: 32,668,010 T152P probably damaging Het
Dpp8 A T 9: 65,045,716 I225F probably damaging Het
Dspp A G 5: 104,175,624 Q211R possibly damaging Het
Gja1 T A 10: 56,387,806 V87E possibly damaging Het
Gm8165 T C 14: 43,676,239 E56G possibly damaging Het
Gstp2 T A 19: 4,041,094 probably benign Het
Gucy2e A G 11: 69,236,116 V177A probably benign Het
Insrr G A 3: 87,813,127 R1024H probably damaging Het
Iqgap2 A G 13: 95,689,701 W538R probably benign Het
Lrrc71 T C 3: 87,743,071 I232V probably damaging Het
Mphosph8 T A 14: 56,695,721 N808K probably damaging Het
Olfr1100 T A 2: 86,977,849 R316* probably null Het
Pak6 T C 2: 118,693,233 S290P probably benign Het
Ptpro C T 6: 137,410,980 A734V probably damaging Het
Reg1 A T 6: 78,427,338 N65I probably damaging Het
Rnf17 T G 14: 56,500,587 I1275S probably damaging Het
Sfrp5 C T 19: 42,199,029 V201I probably benign Het
Sgsm1 T A 5: 113,253,063 H987L possibly damaging Het
Shank1 A T 7: 44,356,937 Y2026F possibly damaging Het
Slc15a2 T C 16: 36,751,775 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar8a T A 10: 24,077,362 I288N possibly damaging Het
Tpbpb T G 13: 60,901,854 *121C probably null Het
Trim29 A T 9: 43,324,852 N460I probably benign Het
Trp53tg5 T A 2: 164,471,456 I100F possibly damaging Het
Ubr2 T C 17: 46,963,150 T871A probably benign Het
Zfyve19 C T 2: 119,216,426 probably benign Het
Other mutations in Vrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Vrk1 APN 12 106058581 missense probably damaging 1.00
IGL00639:Vrk1 APN 12 106055916 splice site probably null
IGL02072:Vrk1 APN 12 106042885 missense probably benign 0.04
IGL02479:Vrk1 APN 12 106051002 missense probably benign 0.00
IGL02501:Vrk1 APN 12 106062653 missense probably benign
IGL03211:Vrk1 APN 12 106036588 missense probably benign 0.03
R0332:Vrk1 UTSW 12 106058625 missense probably benign 0.05
R0790:Vrk1 UTSW 12 106070624 missense probably benign
R1897:Vrk1 UTSW 12 106036540 splice site probably benign
R1911:Vrk1 UTSW 12 106057977 critical splice donor site probably null
R2289:Vrk1 UTSW 12 106057861 missense probably damaging 1.00
R2981:Vrk1 UTSW 12 106051793 missense probably damaging 1.00
R4885:Vrk1 UTSW 12 106057972 missense probably damaging 1.00
R4905:Vrk1 UTSW 12 106051828 missense probably damaging 1.00
R5220:Vrk1 UTSW 12 106073606 splice site probably null
R5366:Vrk1 UTSW 12 106055819 missense possibly damaging 0.78
R5499:Vrk1 UTSW 12 106051765 missense possibly damaging 0.92
R6666:Vrk1 UTSW 12 106058651 missense probably damaging 1.00
R6907:Vrk1 UTSW 12 106075032 missense possibly damaging 0.90
R8154:Vrk1 UTSW 12 106070534 missense probably benign 0.08
Posted On2015-04-16