Incidental Mutation 'IGL01766:Gen1'
ID153675
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: 0.143) question?
Stock #IGL01766
Quality Score
Status
Chromosome12
Chromosomal Location11238920-11265801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 11256894 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 92 (D92N)
Ref Sequence ENSEMBL: ENSMUSP00000151898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218259] [ENSMUST00000218487] [ENSMUST00000218547] [ENSMUST00000219600]
Predicted Effect probably damaging
Transcript: ENSMUST00000166117
AA Change: D157N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: D157N

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 benign
Transcript: ENSMUST00000218259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218262
Predicted Effect probably damaging
Transcript: ENSMUST00000218487
AA Change: D92N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000218547
AA Change: D92N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219600
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A G 10: 29,224,561 D310G probably benign Het
Ahnak A G 19: 9,000,118 T7A unknown Het
Arhgap21 T A 2: 20,849,637 D1648V possibly damaging Het
Cd274 T C 19: 29,385,410 *291Q probably null Het
Ceacam1 G A 7: 25,471,995 S348L probably damaging Het
Dcaf13 T C 15: 39,118,750 V37A probably benign Het
Degs1 A T 1: 182,279,095 F200I probably damaging Het
Dock4 G T 12: 40,446,379 E8* probably null Het
Dsc2 G A 18: 20,046,342 P223L possibly damaging Het
Exo1 A G 1: 175,892,021 T171A possibly damaging Het
Gm572 A T 4: 148,654,895 H60L possibly damaging Het
Gucy2c T C 6: 136,715,973 T719A probably benign Het
Heatr5a T C 12: 51,889,664 S1575G probably benign Het
Hspa12a T C 19: 58,799,467 E641G probably damaging Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Luzp1 T C 4: 136,542,773 I769T possibly damaging Het
Map2k5 C T 9: 63,377,227 A11T probably benign Het
Myo9b A G 8: 71,290,517 E74G probably damaging Het
Myom1 T C 17: 71,077,288 V666A probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr389 T A 11: 73,777,075 N84I probably benign Het
Olfr816 A G 10: 129,911,780 F166S probably damaging Het
Olfr987 A G 2: 85,331,601 L99S probably benign Het
Plekhg1 A G 10: 3,873,400 T123A probably damaging Het
Polrmt T C 10: 79,736,568 E1077G possibly damaging Het
Ptprh A G 7: 4,580,916 W226R probably benign Het
Robo1 A G 16: 73,004,665 H1059R probably benign Het
Sesn1 A G 10: 41,898,369 T306A probably benign Het
Sox14 T A 9: 99,875,116 H190L probably damaging Het
Spag8 G T 4: 43,653,209 probably benign Het
Tomm40 T C 7: 19,703,082 H20R possibly damaging Het
Znhit3 G T 11: 84,916,133 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
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
IGL02690:Gen1 APN 12 11241575 missense probably damaging 0.96
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
R7512:Gen1 UTSW 12 11260976 missense not run
Posted On2014-02-04