Incidental Mutation 'IGL02690:Gen1'
ID303692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gen1
Ensembl Gene ENSMUSG00000051235
Gene NameGEN1, Holliday junction 5' flap endonuclease
Synonyms5830483C08Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL02690
Quality Score
Status
Chromosome12
Chromosomal Location11238920-11265801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11241575 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 738 (S738P)
Ref Sequence ENSEMBL: ENSMUSP00000151310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218487] [ENSMUST00000218547]
Predicted Effect possibly damaging
Transcript: ENSMUST00000166117
AA Change: S803P

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: S803P

DomainStartEndE-ValueType
XPGN 1 96 9.13e-22 SMART
XPGI 122 193 5.32e-23 SMART
HhH2 195 229 2.87e-5 SMART
low complexity region 704 713 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218487
AA Change: S738P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000218547
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 Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign Het
Other mutations in Gen1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Gen1 APN 12 11261067 missense probably damaging 1.00
IGL01308:Gen1 APN 12 11256870 missense probably damaging 1.00
IGL01384:Gen1 APN 12 11255241 missense probably benign 0.00
IGL01766:Gen1 APN 12 11256894 missense probably damaging 1.00
IGL02132:Gen1 APN 12 11241866 missense probably benign 0.37
IGL02191:Gen1 APN 12 11242296 missense probably benign 0.18
IGL02452:Gen1 APN 12 11242575 missense probably benign 0.02
IGL02479:Gen1 APN 12 11241935 missense probably benign 0.01
IGL03095:Gen1 APN 12 11248264 missense probably benign 0.38
PIT4520001:Gen1 UTSW 12 11241508 missense probably benign 0.12
R0014:Gen1 UTSW 12 11241641 missense probably benign 0.44
R0014:Gen1 UTSW 12 11241641 missense probably benign 0.44
R0355:Gen1 UTSW 12 11248354 splice site probably benign
R0680:Gen1 UTSW 12 11241869 missense probably benign 0.06
R0891:Gen1 UTSW 12 11248354 splice site probably benign
R1192:Gen1 UTSW 12 11255218 missense probably damaging 0.97
R1353:Gen1 UTSW 12 11243219 missense probably benign 0.00
R1833:Gen1 UTSW 12 11248351 splice site probably benign
R1898:Gen1 UTSW 12 11241608 missense probably benign 0.10
R2138:Gen1 UTSW 12 11241621 missense probably damaging 1.00
R2185:Gen1 UTSW 12 11261040 missense probably null 0.95
R2409:Gen1 UTSW 12 11249164 missense possibly damaging 0.75
R2876:Gen1 UTSW 12 11242068 missense probably benign 0.13
R3815:Gen1 UTSW 12 11252033 missense possibly damaging 0.84
R4402:Gen1 UTSW 12 11242362 missense possibly damaging 0.71
R4572:Gen1 UTSW 12 11242418 missense probably damaging 0.99
R4900:Gen1 UTSW 12 11241560 missense probably benign 0.00
R5091:Gen1 UTSW 12 11246346 missense probably damaging 0.97
R5952:Gen1 UTSW 12 11260896 missense probably damaging 0.96
R6785:Gen1 UTSW 12 11262530 missense possibly damaging 0.89
R6869:Gen1 UTSW 12 11241441 missense probably benign 0.02
R7057:Gen1 UTSW 12 11242418 missense probably benign 0.21
R7155:Gen1 UTSW 12 11241832 missense probably benign 0.25
R7260:Gen1 UTSW 12 11256848 missense probably damaging 0.99
R7316:Gen1 UTSW 12 11241469 missense probably benign
Posted On2015-04-16