Incidental Mutation 'R0355:Gen1'
ID 65388
Institutional Source Beutler Lab
Gene Symbol Gen1
Ensembl Gene ENSMUSG00000051235
Gene Name GEN1, Holliday junction 5' flap endonuclease
Synonyms 5830483C08Rik
MMRRC Submission 038561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0355 (G1)
Quality Score 149
Status Validated
Chromosome 12
Chromosomal Location 11288921-11315802 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 11298355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218487] [ENSMUST00000218547]
AlphaFold Q8BMI4
Predicted Effect probably benign
Transcript: ENSMUST00000166117
SMART Domains Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235

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: ENSMUST00000218487
Predicted Effect probably benign
Transcript: ENSMUST00000218547
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220261
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.2%
Validation Efficiency 100% (76/76)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,023,021 (GRCm39) I52M possibly damaging Het
Agbl5 G T 5: 31,049,335 (GRCm39) probably null Het
Akt2 T C 7: 27,336,334 (GRCm39) probably benign Het
Arl6ip5 T A 6: 97,209,378 (GRCm39) S138T probably damaging Het
Atp9b A G 18: 80,952,800 (GRCm39) probably benign Het
Ccdc171 A T 4: 83,553,919 (GRCm39) N422Y probably damaging Het
Ccr5 C T 9: 123,924,951 (GRCm39) P185S possibly damaging Het
Cep63 G T 9: 102,500,759 (GRCm39) Q38K probably benign Het
Cgn T C 3: 94,682,242 (GRCm39) S446G probably benign Het
Col16a1 T A 4: 129,952,206 (GRCm39) probably benign Het
Csmd1 T A 8: 15,968,330 (GRCm39) Q3099L probably damaging Het
Dcc G A 18: 71,708,279 (GRCm39) T479I possibly damaging Het
Dclre1a A G 19: 56,535,067 (GRCm39) probably null Het
Dlg1 T A 16: 31,502,992 (GRCm39) C66* probably null Het
Dnah12 T A 14: 26,427,272 (GRCm39) probably null Het
Dnajb9 T A 12: 44,253,987 (GRCm39) H140L probably damaging Het
Dnase1 G A 16: 3,857,413 (GRCm39) V237M probably damaging Het
Dscam C A 16: 96,456,105 (GRCm39) E1274D probably benign Het
Epb41 T C 4: 131,727,572 (GRCm39) H243R probably damaging Het
Evc T A 5: 37,473,656 (GRCm39) probably benign Het
Fcgrt T A 7: 44,752,493 (GRCm39) M1L unknown Het
Flii T C 11: 60,610,506 (GRCm39) probably null Het
Gm10447 T C 11: 53,347,257 (GRCm39) probably benign Het
Gm57858 A G 3: 36,101,054 (GRCm39) probably benign Het
Gm8674 A T 13: 50,055,975 (GRCm39) noncoding transcript Het
Gpr137 G C 19: 6,916,491 (GRCm39) D253E probably damaging Het
Grid2ip A T 5: 143,343,652 (GRCm39) D116V probably benign Het
Grin2c A G 11: 115,151,554 (GRCm39) probably benign Het
Havcr1 A G 11: 46,647,051 (GRCm39) T162A possibly damaging Het
Hspa1l A T 17: 35,196,386 (GRCm39) T142S probably benign Het
Ift140 T A 17: 25,267,409 (GRCm39) Y602* probably null Het
Il18 T A 9: 50,490,575 (GRCm39) probably benign Het
Ilf3 T C 9: 21,309,266 (GRCm39) V474A probably damaging Het
Inppl1 T C 7: 101,476,664 (GRCm39) Y771C probably damaging Het
Ints2 T C 11: 86,125,575 (GRCm39) T542A probably benign Het
Ipo7 T C 7: 109,648,868 (GRCm39) Y714H probably benign Het
Itgbl1 T A 14: 124,077,997 (GRCm39) C162* probably null Het
Kcp T C 6: 29,496,926 (GRCm39) H561R possibly damaging Het
Krt23 G T 11: 99,376,613 (GRCm39) T181N probably benign Het
Lrrc40 A T 3: 157,746,108 (GRCm39) D61V probably damaging Het
Lypd4 T A 7: 24,564,691 (GRCm39) H149L probably benign Het
Map3k4 A G 17: 12,473,058 (GRCm39) F953L probably damaging Het
Mctp1 C T 13: 76,972,982 (GRCm39) P405S probably damaging Het
Mfsd2a G A 4: 122,845,632 (GRCm39) T173I possibly damaging Het
Mtus1 T C 8: 41,535,965 (GRCm39) T584A probably benign Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nipsnap1 G A 11: 4,839,957 (GRCm39) G226E probably damaging Het
Nudt15 T C 14: 73,760,824 (GRCm39) Y89C probably damaging Het
Or10g7 T A 9: 39,905,459 (GRCm39) S118T possibly damaging Het
Or10h28 T A 17: 33,488,109 (GRCm39) M137K probably damaging Het
Or13p3 T A 4: 118,566,808 (GRCm39) M68K probably benign Het
Or7a37 T G 10: 78,806,267 (GRCm39) S261R probably damaging Het
Phf24 A C 4: 42,933,891 (GRCm39) E91A probably damaging Het
Plbd1 T A 6: 136,618,165 (GRCm39) N17I possibly damaging Het
Por C T 5: 135,761,438 (GRCm39) S308L probably benign Het
Prmt8 T A 6: 127,688,837 (GRCm39) K178* probably null Het
Rev3l A G 10: 39,693,282 (GRCm39) N454S probably damaging Het
Rps6ka2 T C 17: 7,539,009 (GRCm39) V309A probably benign Het
Slc15a5 A G 6: 137,995,112 (GRCm39) probably benign Het
Slc30a6 G A 17: 74,730,198 (GRCm39) V363I probably benign Het
Snf8 G A 11: 95,930,125 (GRCm39) M42I probably benign Het
Stom T C 2: 35,215,371 (GRCm39) I65V probably benign Het
Tacr3 C T 3: 134,637,989 (GRCm39) T382I probably benign Het
Tenm3 A G 8: 48,682,010 (GRCm39) V2540A probably damaging Het
Trabd A G 15: 88,969,816 (GRCm39) T314A possibly damaging Het
Tyk2 T C 9: 21,025,486 (GRCm39) probably null Het
Ube4a T C 9: 44,856,099 (GRCm39) probably benign Het
Unc80 A G 1: 66,589,015 (GRCm39) H1060R possibly damaging Het
Virma A T 4: 11,528,626 (GRCm39) K1288* probably null Het
Vmn2r100 A C 17: 19,751,582 (GRCm39) I542L probably benign Het
Vwde T C 6: 13,187,806 (GRCm39) probably benign Het
Zfc3h1 T C 10: 115,245,018 (GRCm39) I797T possibly damaging Het
Zfp74 C T 7: 29,653,466 (GRCm39) probably benign Het
Zkscan7 T A 9: 122,717,872 (GRCm39) L89Q probably damaging Het
Other mutations in Gen1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Gen1 APN 12 11,311,068 (GRCm39) missense probably damaging 1.00
IGL01308:Gen1 APN 12 11,306,871 (GRCm39) missense probably damaging 1.00
IGL01384:Gen1 APN 12 11,305,242 (GRCm39) missense probably benign 0.00
IGL01766:Gen1 APN 12 11,306,895 (GRCm39) missense probably damaging 1.00
IGL02132:Gen1 APN 12 11,291,867 (GRCm39) missense probably benign 0.37
IGL02191:Gen1 APN 12 11,292,297 (GRCm39) missense probably benign 0.18
IGL02452:Gen1 APN 12 11,292,576 (GRCm39) missense probably benign 0.02
IGL02479:Gen1 APN 12 11,291,936 (GRCm39) missense probably benign 0.01
IGL02690:Gen1 APN 12 11,291,576 (GRCm39) missense probably damaging 0.96
IGL03095:Gen1 APN 12 11,298,265 (GRCm39) missense probably benign 0.38
PIT4520001:Gen1 UTSW 12 11,291,509 (GRCm39) missense probably benign 0.12
R0014:Gen1 UTSW 12 11,291,642 (GRCm39) missense probably benign 0.44
R0014:Gen1 UTSW 12 11,291,642 (GRCm39) missense probably benign 0.44
R0680:Gen1 UTSW 12 11,291,870 (GRCm39) missense probably benign 0.06
R0891:Gen1 UTSW 12 11,298,355 (GRCm39) splice site probably benign
R1192:Gen1 UTSW 12 11,305,219 (GRCm39) missense probably damaging 0.97
R1353:Gen1 UTSW 12 11,293,220 (GRCm39) missense probably benign 0.00
R1833:Gen1 UTSW 12 11,298,352 (GRCm39) splice site probably benign
R1898:Gen1 UTSW 12 11,291,609 (GRCm39) missense probably benign 0.10
R2138:Gen1 UTSW 12 11,291,622 (GRCm39) missense probably damaging 1.00
R2185:Gen1 UTSW 12 11,311,041 (GRCm39) missense probably null 0.95
R2409:Gen1 UTSW 12 11,299,165 (GRCm39) missense possibly damaging 0.75
R2876:Gen1 UTSW 12 11,292,069 (GRCm39) missense probably benign 0.13
R3815:Gen1 UTSW 12 11,302,034 (GRCm39) missense possibly damaging 0.84
R4402:Gen1 UTSW 12 11,292,363 (GRCm39) missense possibly damaging 0.71
R4572:Gen1 UTSW 12 11,292,419 (GRCm39) missense probably damaging 0.99
R4900:Gen1 UTSW 12 11,291,561 (GRCm39) missense probably benign 0.00
R5091:Gen1 UTSW 12 11,296,347 (GRCm39) missense probably damaging 0.97
R5952:Gen1 UTSW 12 11,310,897 (GRCm39) missense probably damaging 0.96
R6785:Gen1 UTSW 12 11,312,531 (GRCm39) missense possibly damaging 0.89
R6869:Gen1 UTSW 12 11,291,442 (GRCm39) missense probably benign 0.02
R7057:Gen1 UTSW 12 11,292,419 (GRCm39) missense probably benign 0.21
R7155:Gen1 UTSW 12 11,291,833 (GRCm39) missense probably benign 0.25
R7260:Gen1 UTSW 12 11,306,849 (GRCm39) missense probably damaging 0.99
R7316:Gen1 UTSW 12 11,291,470 (GRCm39) missense probably benign
R7512:Gen1 UTSW 12 11,310,977 (GRCm39) missense possibly damaging 0.79
R7692:Gen1 UTSW 12 11,292,167 (GRCm39) missense probably benign 0.22
R7800:Gen1 UTSW 12 11,291,863 (GRCm39) missense probably benign 0.00
R8061:Gen1 UTSW 12 11,311,077 (GRCm39) splice site probably benign
R8112:Gen1 UTSW 12 11,304,374 (GRCm39) nonsense probably null
R8147:Gen1 UTSW 12 11,305,051 (GRCm39) splice site probably null
R8152:Gen1 UTSW 12 11,293,266 (GRCm39) missense probably damaging 0.99
R8153:Gen1 UTSW 12 11,310,948 (GRCm39) missense probably damaging 1.00
R8161:Gen1 UTSW 12 11,291,465 (GRCm39) missense probably benign 0.21
R8942:Gen1 UTSW 12 11,292,287 (GRCm39) missense probably benign 0.01
R9004:Gen1 UTSW 12 11,305,022 (GRCm39) intron probably benign
R9183:Gen1 UTSW 12 11,299,186 (GRCm39) missense probably damaging 1.00
R9347:Gen1 UTSW 12 11,311,068 (GRCm39) missense probably damaging 1.00
R9367:Gen1 UTSW 12 11,291,309 (GRCm39) nonsense probably null
R9482:Gen1 UTSW 12 11,305,186 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- GGGCTTTCCTTGACTTTTGGAGAACAG -3'
(R):5'- TCTCAACCAGGTTGTCATTTGACACC -3'

Sequencing Primer
(F):5'- agccagaagaaggcatcag -3'
(R):5'- AGGTTGTCATTTGACACCTTCTC -3'
Posted On 2013-08-08