Incidental Mutation 'IGL01384:Gen1'
ID78966
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 #IGL01384
Quality Score
Status
Chromosome12
Chromosomal Location11238920-11265801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11255241 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 184 (I184M)
Ref Sequence ENSEMBL: ENSMUSP00000132098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218259] [ENSMUST00000218487] [ENSMUST00000218547]
Predicted Effect probably benign
Transcript: ENSMUST00000166117
AA Change: I184M

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: I184M

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 benign
Transcript: ENSMUST00000218487
AA Change: I119M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000218547
AA Change: I119M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220261
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik C T 13: 63,190,476 probably benign Het
4932414N04Rik A G 2: 68,745,405 R683G possibly damaging Het
Abca9 A G 11: 110,145,637 S549P probably damaging Het
Adgrd1 T C 5: 129,097,209 S17P possibly damaging Het
AI464131 G T 4: 41,498,151 A493E probably damaging Het
Ankrd36 C A 11: 5,628,348 H546N probably benign Het
Bivm T G 1: 44,126,747 I119S possibly damaging Het
Ccdc88a G T 11: 29,503,915 D1693Y probably damaging Het
Clcn6 G A 4: 148,018,966 R242C probably damaging Het
Clec4a2 A C 6: 123,127,988 K79T probably damaging Het
Cspp1 G A 1: 10,116,680 R129H probably damaging Het
Cyp2c40 A T 19: 39,812,583 M47K probably benign Het
Dmxl1 A G 18: 49,857,334 D280G probably benign Het
Fbxo38 A G 18: 62,522,416 S400P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm9949 A T 18: 62,184,018 probably benign Het
Grtp1 A T 8: 13,179,629 V253E probably damaging Het
Lamb1 T A 12: 31,320,931 M1327K probably benign Het
Lrp2 T C 2: 69,453,812 D3874G probably null Het
Lrp2 T A 2: 69,483,502 D2295V probably damaging Het
Mrvi1 A G 7: 110,926,501 V148A possibly damaging Het
Muc5b A T 7: 141,846,818 I509F unknown Het
Mug1 A C 6: 121,849,474 probably benign Het
Myh7 A T 14: 54,971,459 L1903Q probably damaging Het
Mylk G T 16: 34,938,952 A1229S probably benign Het
Ncam1 A T 9: 49,509,852 I721N possibly damaging Het
Olfr888 T A 9: 38,109,562 I287N probably damaging Het
Pla2g2c A G 4: 138,743,701 K131R probably benign Het
Rpgrip1l A T 8: 91,273,640 I557N probably benign Het
Sirpb1b T A 3: 15,548,729 N98Y probably damaging Het
Stab1 A G 14: 31,150,408 V1182A probably benign Het
Tagap1 T C 17: 6,956,883 D138G probably benign Het
Tiam2 T A 17: 3,427,202 F567I probably benign Het
Ush2a A T 1: 188,553,228 D1987V possibly damaging Het
Vmn1r36 A T 6: 66,716,462 I37N probably damaging Het
Wif1 A T 10: 121,084,950 T226S possibly damaging Het
Zfp428 A G 7: 24,510,742 D22G possibly damaging Het
Zfp521 A T 18: 13,843,923 N1144K 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
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
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
Posted On2013-11-05