Incidental Mutation 'IGL02132:Gen1'
ID 281052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gen1
Ensembl Gene ENSMUSG00000051235
Gene Name GEN1, Holliday junction 5' flap endonuclease
Synonyms 5830483C08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL02132
Quality Score
Status
Chromosome 12
Chromosomal Location 11288921-11315802 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11291867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 706 (S706P)
Ref Sequence ENSEMBL: ENSMUSP00000132098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218487] [ENSMUST00000218547]
AlphaFold Q8BMI4
Predicted Effect probably benign
Transcript: ENSMUST00000166117
AA Change: S706P

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: S706P

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
AA Change: S641P

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,614,635 (GRCm39) probably benign Het
4930432E11Rik C T 7: 29,262,704 (GRCm39) noncoding transcript Het
Adcy10 T C 1: 165,400,112 (GRCm39) V1507A probably damaging Het
Ap3b2 T A 7: 81,110,746 (GRCm39) M1010L unknown Het
Bmp10 T C 6: 87,411,130 (GRCm39) S308P probably benign Het
Cnih3 C A 1: 181,282,274 (GRCm39) Y169* probably null Het
Cpsf4l A G 11: 113,590,685 (GRCm39) S222P possibly damaging Het
Cyp2d10 G A 15: 82,288,808 (GRCm39) probably benign Het
Dcstamp A T 15: 39,617,928 (GRCm39) E112D probably damaging Het
Fras1 C T 5: 96,929,496 (GRCm39) Q3967* probably null Het
Gcm1 C A 9: 77,972,121 (GRCm39) P354H possibly damaging Het
Glb1l3 G T 9: 26,736,466 (GRCm39) T532N probably benign Het
Gm5069 T A 1: 180,154,872 (GRCm39) probably benign Het
Gzmc A C 14: 56,471,422 (GRCm39) F40V probably benign Het
Itgb2 G T 10: 77,385,895 (GRCm39) C286F probably damaging Het
Jak3 A G 8: 72,131,124 (GRCm39) Y48C probably damaging Het
Lrp2 G A 2: 69,367,960 (GRCm39) S184L probably benign Het
Myo1f T A 17: 33,798,945 (GRCm39) N203K probably benign Het
Nrxn2 G A 19: 6,522,306 (GRCm39) G182R probably damaging Het
Or4k15c T C 14: 50,321,943 (GRCm39) N65S probably damaging Het
Or4p8 A G 2: 88,727,503 (GRCm39) V146A probably benign Het
Or5g23 A C 2: 85,438,664 (GRCm39) L197V probably benign Het
Otog C T 7: 45,954,903 (GRCm39) S2692L probably damaging Het
Pde9a C T 17: 31,672,444 (GRCm39) T34I probably benign Het
Phip T C 9: 82,763,394 (GRCm39) T1295A possibly damaging Het
Pik3cb A G 9: 98,953,430 (GRCm39) V451A probably benign Het
Psd2 T G 18: 36,137,809 (GRCm39) probably benign Het
Pycr2 T C 1: 180,733,762 (GRCm39) I118T probably damaging Het
Rnf17 T G 14: 56,658,623 (GRCm39) M104R probably benign Het
Rp1l1 T C 14: 64,266,259 (GRCm39) V615A probably benign Het
Sel1l3 T A 5: 53,327,747 (GRCm39) R511W possibly damaging Het
Sis T C 3: 72,854,804 (GRCm39) N478D probably benign Het
Trps1 T A 15: 50,685,674 (GRCm39) S584C probably damaging Het
Vmn2r124 T C 17: 18,284,491 (GRCm39) probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zc3h13 T C 14: 75,567,787 (GRCm39) S1027P probably benign Het
Zfp644 A T 5: 106,783,760 (GRCm39) I929K probably benign 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
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
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
Posted On 2015-04-16