Incidental Mutation 'IGL02479:Vrk1'
ID 295099
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vrk1
Ensembl Gene ENSMUSG00000021115
Gene Name vaccinia related kinase 1
Synonyms 51PK
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # IGL02479
Quality Score
Status
Chromosome 12
Chromosomal Location 105976487-106043685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 106017261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 95 (Q95L)
Ref Sequence ENSEMBL: ENSMUSP00000152721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021539] [ENSMUST00000072040] [ENSMUST00000085026] [ENSMUST00000220629] [ENSMUST00000221312]
AlphaFold Q80X41
Predicted Effect probably benign
Transcript: ENSMUST00000021539
AA Change: Q95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: Q95L

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 benign
Transcript: ENSMUST00000072040
AA Change: Q95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: Q95L

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 benign
Transcript: ENSMUST00000085026
AA Change: Q95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: Q95L

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 benign
Transcript: ENSMUST00000220629
AA Change: Q95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221312
AA Change: Q95L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,639,461 (GRCm39) Y528C probably damaging Het
Adam24 T A 8: 41,132,571 (GRCm39) I13N probably benign Het
Arsj T C 3: 126,232,588 (GRCm39) S445P possibly damaging Het
Btf3l4 G A 4: 108,683,373 (GRCm39) T31I possibly damaging Het
Cask A T X: 13,423,297 (GRCm39) D502E probably damaging Het
Cenpl T A 1: 160,910,637 (GRCm39) S195T probably benign Het
Clhc1 T A 11: 29,528,107 (GRCm39) I545N probably damaging Het
Clrn2 T C 5: 45,621,254 (GRCm39) I216T probably benign Het
Csf2rb C T 15: 78,225,924 (GRCm39) Q332* probably null Het
Cyp3a44 T C 5: 145,727,477 (GRCm39) D284G probably benign Het
Dgka T C 10: 128,566,115 (GRCm39) E345G probably benign Het
Dync1i2 G A 2: 71,066,323 (GRCm39) V128I probably damaging Het
Eno3 T A 11: 70,551,714 (GRCm39) probably benign Het
Epc2 T A 2: 49,422,147 (GRCm39) I347K probably benign Het
F8 A T X: 74,331,846 (GRCm39) N681K probably damaging Het
Fancm T A 12: 65,153,259 (GRCm39) D1238E probably damaging Het
Fcna T A 2: 25,515,272 (GRCm39) Q237L probably benign Het
Fpr2 A T 17: 18,113,074 (GRCm39) R23S probably benign Het
Frmd3 A G 4: 74,105,752 (GRCm39) D466G probably benign Het
Gen1 C A 12: 11,291,936 (GRCm39) V618L probably benign Het
Gja4 T C 4: 127,206,217 (GRCm39) E182G probably benign Het
Gsdmc T A 15: 63,649,824 (GRCm39) I356F possibly damaging Het
Kctd19 T C 8: 106,111,400 (GRCm39) D102G probably damaging Het
Lrit2 T C 14: 36,794,235 (GRCm39) L433P probably damaging Het
Lrp2 G A 2: 69,295,145 (GRCm39) probably benign Het
Luc7l3 G A 11: 94,187,735 (GRCm39) probably benign Het
Map3k5 T A 10: 19,932,230 (GRCm39) L458Q probably damaging Het
Mast4 A G 13: 102,878,545 (GRCm39) S1038P probably damaging Het
Med12 A T X: 100,340,598 (GRCm39) probably benign Het
Mtor T A 4: 148,555,041 (GRCm39) L888M probably damaging Het
Nova1 A T 12: 46,863,701 (GRCm39) I83N unknown Het
Obscn A G 11: 58,947,053 (GRCm39) probably benign Het
Or11q2 T C X: 48,772,742 (GRCm39) V121A probably benign Het
Or4d10c T A 19: 12,065,269 (GRCm39) M296L probably benign Het
Or4f15 A C 2: 111,813,730 (GRCm39) S230A probably benign Het
Or6k2 C A 1: 173,986,520 (GRCm39) Y60* probably null Het
Pde2a A G 7: 101,150,290 (GRCm39) Y243C probably damaging Het
Pdzd8 T A 19: 59,288,215 (GRCm39) K1062* probably null Het
Phc1 A T 6: 122,300,676 (GRCm39) probably benign Het
Pik3c2g T A 6: 139,863,730 (GRCm39) S764T probably benign Het
Pmp2 T G 3: 10,247,262 (GRCm39) R89S probably benign Het
Prdm2 A G 4: 142,861,499 (GRCm39) L597P probably damaging Het
Rfx6 T A 10: 51,554,424 (GRCm39) D88E probably benign Het
Rgs9 T C 11: 109,116,478 (GRCm39) S442G possibly damaging Het
Ror2 C T 13: 53,285,968 (GRCm39) R82Q possibly damaging Het
Sez6 C A 11: 77,868,852 (GRCm39) A986E possibly damaging Het
Slc5a5 T A 8: 71,341,555 (GRCm39) M325L possibly damaging Het
Slx9 T C 10: 77,350,161 (GRCm39) S76G probably damaging Het
Sppl2c G A 11: 104,077,763 (GRCm39) V188I probably benign Het
Srrm3 G T 5: 135,864,103 (GRCm39) C67F probably damaging Het
Stk31 A G 6: 49,398,622 (GRCm39) E341G probably damaging Het
Svil A T 18: 5,099,476 (GRCm39) M1267L probably damaging Het
Tas2r135 C T 6: 42,382,685 (GRCm39) R75* probably null Het
Trav8d-1 T C 14: 53,016,257 (GRCm39) S48P probably benign Het
Wdr25 C A 12: 108,864,527 (GRCm39) T224K probably benign Het
Wdr37 A T 13: 8,892,820 (GRCm39) H224Q probably damaging Het
Zhx1 C T 15: 57,917,767 (GRCm39) E160K probably damaging Het
Other mutations in Vrk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Vrk1 APN 12 106,024,840 (GRCm39) missense probably damaging 1.00
IGL00639:Vrk1 APN 12 106,022,175 (GRCm39) splice site probably null
IGL02072:Vrk1 APN 12 106,009,144 (GRCm39) missense probably benign 0.04
IGL02387:Vrk1 APN 12 106,036,803 (GRCm39) missense probably damaging 1.00
IGL02501:Vrk1 APN 12 106,028,912 (GRCm39) missense probably benign
IGL03211:Vrk1 APN 12 106,002,847 (GRCm39) missense probably benign 0.03
R0332:Vrk1 UTSW 12 106,024,884 (GRCm39) missense probably benign 0.05
R0790:Vrk1 UTSW 12 106,036,883 (GRCm39) missense probably benign
R1897:Vrk1 UTSW 12 106,002,799 (GRCm39) splice site probably benign
R1911:Vrk1 UTSW 12 106,024,236 (GRCm39) critical splice donor site probably null
R2289:Vrk1 UTSW 12 106,024,120 (GRCm39) missense probably damaging 1.00
R2981:Vrk1 UTSW 12 106,018,052 (GRCm39) missense probably damaging 1.00
R4885:Vrk1 UTSW 12 106,024,231 (GRCm39) missense probably damaging 1.00
R4905:Vrk1 UTSW 12 106,018,087 (GRCm39) missense probably damaging 1.00
R5220:Vrk1 UTSW 12 106,039,865 (GRCm39) splice site probably null
R5366:Vrk1 UTSW 12 106,022,078 (GRCm39) missense possibly damaging 0.78
R5499:Vrk1 UTSW 12 106,018,024 (GRCm39) missense possibly damaging 0.92
R6666:Vrk1 UTSW 12 106,024,910 (GRCm39) missense probably damaging 1.00
R6907:Vrk1 UTSW 12 106,041,291 (GRCm39) missense possibly damaging 0.90
R8154:Vrk1 UTSW 12 106,036,793 (GRCm39) missense probably benign 0.08
R8981:Vrk1 UTSW 12 106,036,953 (GRCm39) intron probably benign
R9174:Vrk1 UTSW 12 106,002,811 (GRCm39) missense probably benign 0.00
R9337:Vrk1 UTSW 12 106,024,957 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16