Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02132:Gen1'

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

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

11238920-11265801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11241866 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,778,730		probably benign	Het
4930432E11Rik	C	T	7: 29,563,279		noncoding transcript	Het
Adcy10	T	C	1: 165,572,543	V1507A	probably damaging	Het
Ap3b2	T	A	7: 81,460,998	M1010L	unknown	Het
Bmp10	T	C	6: 87,434,148	S308P	probably benign	Het
Cnih3	C	A	1: 181,454,709	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,699,859	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,404,607		probably benign	Het
Dcstamp	A	T	15: 39,754,532	E112D	probably damaging	Het
Fras1	C	T	5: 96,781,637	Q3967*	probably null	Het
Gcm1	C	A	9: 78,064,839	P354H	possibly damaging	Het
Glb1l3	G	T	9: 26,825,170	T532N	probably benign	Het
Gm5069	T	A	1: 180,327,307		probably benign	Het
Gzmc	A	C	14: 56,233,965	F40V	probably benign	Het
Itgb2	G	T	10: 77,550,061	C286F	probably damaging	Het
Jak3	A	G	8: 71,678,480	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,537,616	S184L	probably benign	Het
Myo1f	T	A	17: 33,579,971	N203K	probably benign	Het
Nrxn2	G	A	19: 6,472,276	G182R	probably damaging	Het
Olfr1000	A	C	2: 85,608,320	L197V	probably benign	Het
Olfr1208	A	G	2: 88,897,159	V146A	probably benign	Het
Olfr726	T	C	14: 50,084,486	N65S	probably damaging	Het
Otog	C	T	7: 46,305,479	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,453,470	T34I	probably benign	Het
Phip	T	C	9: 82,881,341	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 99,071,377	V451A	probably benign	Het
Psd2	T	G	18: 36,004,756		probably benign	Het
Pycr2	T	C	1: 180,906,197	I118T	probably damaging	Het
Rnf17	T	G	14: 56,421,166	M104R	probably benign	Het
Rp1l1	T	C	14: 64,028,810	V615A	probably benign	Het
Sel1l3	T	A	5: 53,170,405	R511W	possibly damaging	Het
Sis	T	C	3: 72,947,471	N478D	probably benign	Het
Trps1	T	A	15: 50,822,278	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,064,229		probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,330,347	S1027P	probably benign	Het
Zfp644	A	T	5: 106,635,894	I929K	probably benign	Het

Other mutations in Gen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL01766:Gen1	APN	12	11256894	missense	probably damaging	1.00
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	possibly damaging	0.79
R7692:Gen1	UTSW	12	11242166	missense	probably benign	0.22
R7800:Gen1	UTSW	12	11241862	missense	probably benign	0.00
R8061:Gen1	UTSW	12	11261076	splice site	probably benign
R8112:Gen1	UTSW	12	11254373	nonsense	probably null
R8147:Gen1	UTSW	12	11255050	splice site	probably null
R8152:Gen1	UTSW	12	11243265	missense	probably damaging	0.99
R8153:Gen1	UTSW	12	11260947	missense	probably damaging	1.00
R8161:Gen1	UTSW	12	11241464	missense	probably benign	0.21
R8942:Gen1	UTSW	12	11242286	missense	probably benign	0.01
R9004:Gen1	UTSW	12	11255021	intron	probably benign
R9183:Gen1	UTSW	12	11249185	missense	probably damaging	1.00
R9347:Gen1	UTSW	12	11261067	missense	probably damaging	1.00
R9367:Gen1	UTSW	12	11241308	nonsense	probably null

Posted On

2015-04-16