Incidental Mutation 'R0891:Gen1'
ID 83508
Institutional Source Beutler Lab
Gene Symbol Gen1
Ensembl Gene ENSMUSG00000051235
Gene Name GEN1, Holliday junction 5' flap endonuclease
Synonyms 5830483C08Rik
MMRRC Submission 039054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R0891 (G1)
Quality Score 225
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: 99.7%
  • 3x: 98.9%
  • 10x: 96.7%
  • 20x: 92.2%
Validation Efficiency 100% (41/41)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,156 (GRCm39) N567K possibly damaging Het
Afap1 G A 5: 36,119,196 (GRCm39) probably null Het
Angel2 G T 1: 190,677,270 (GRCm39) K517N possibly damaging Het
Ankrd36 A G 11: 5,637,316 (GRCm39) E1295G possibly damaging Het
Ankrd45 A G 1: 160,982,906 (GRCm39) N139S possibly damaging Het
Ano3 T C 2: 110,528,321 (GRCm39) T498A probably benign Het
Arhgap12 T C 18: 6,026,699 (GRCm39) T720A probably damaging Het
Brd10 G A 19: 29,695,053 (GRCm39) T1547I probably damaging Het
Brsk1 A G 7: 4,707,226 (GRCm39) S260G possibly damaging Het
Calml3 A G 13: 3,853,926 (GRCm39) F93S probably damaging Het
Ccnf G T 17: 24,445,751 (GRCm39) H498Q possibly damaging Het
Col27a1 A C 4: 63,223,420 (GRCm39) probably null Het
Cpne5 A G 17: 29,421,893 (GRCm39) probably benign Het
Dcst1 G A 3: 89,260,584 (GRCm39) T560I probably benign Het
Fndc7 A G 3: 108,777,904 (GRCm39) Y351H possibly damaging Het
Kcnh8 A T 17: 53,212,242 (GRCm39) D680V probably damaging Het
Kmt2d A G 15: 98,750,572 (GRCm39) probably benign Het
Lrrfip1 T A 1: 90,996,337 (GRCm39) I50N probably damaging Het
Mbip A T 12: 56,387,242 (GRCm39) D132E possibly damaging Het
Nipal3 A T 4: 135,195,898 (GRCm39) I235N possibly damaging Het
Nup93 T A 8: 95,007,891 (GRCm39) probably benign Het
Or6b13 A G 7: 139,782,372 (GRCm39) Y104H probably damaging Het
Or6z6 T A 7: 6,491,471 (GRCm39) Y134F probably damaging Het
Pgbd1 T C 13: 21,606,970 (GRCm39) Y408C probably damaging Het
Pigo G A 4: 43,020,519 (GRCm39) Q808* probably null Het
Pik3r1 A T 13: 101,837,974 (GRCm39) N299K probably benign Het
Pip5k1a A G 3: 94,972,831 (GRCm39) probably benign Het
Semp2l1 T A 1: 32,585,442 (GRCm39) H156L possibly damaging Het
Septin5 G C 16: 18,443,595 (GRCm39) T118R probably damaging Het
Smarcal1 T C 1: 72,638,015 (GRCm39) V483A probably damaging Het
Togaram1 A G 12: 65,029,421 (GRCm39) D948G probably benign Het
Vmn2r75 A T 7: 85,813,476 (GRCm39) V442E possibly damaging Het
Zfp57 A G 17: 37,317,068 (GRCm39) K46E 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
R0355:Gen1 UTSW 12 11,298,355 (GRCm39) splice site probably benign
R0680:Gen1 UTSW 12 11,291,870 (GRCm39) missense probably benign 0.06
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 2013-11-08