Mutagenetix > Incidental Mutation

Incidental Mutation 'R4900:Gen1'

376110

Institutional Source

Beutler Lab

Gene Symbol

Gen1

Ensembl Gene

ENSMUSG00000051235

Gene Name

GEN1, Holliday junction 5' flap endonuclease

Synonyms

5830483C08Rik

MMRRC Submission

042504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11288921-11315802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11291561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 808 (Y808N)

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: Y808N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: Y808N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218547

Meta Mutation Damage Score

0.0636

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (84/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,895,091 (GRCm39)	V262A	probably benign	Het
Abtb2	A	G	2: 103,397,349 (GRCm39)	E93G	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Adgrb2	T	A	4: 129,907,668 (GRCm39)	Y1001N	probably damaging	Het
Aox1	T	G	1: 58,344,544 (GRCm39)	S546A	probably benign	Het
Asic2	T	C	11: 81,464,280 (GRCm39)		probably benign	Het
Bcl11b	T	A	12: 107,955,957 (GRCm39)	N64I	probably damaging	Het
Cacna1g	A	G	11: 94,350,177 (GRCm39)	F556S	possibly damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdh11	C	T	8: 103,374,090 (GRCm39)		probably null	Het
Ces2g	C	T	8: 105,693,989 (GRCm39)	Q442*	probably null	Het
Cps1	A	T	1: 67,200,063 (GRCm39)	T404S	probably damaging	Het
Csf2rb2	A	T	15: 78,170,174 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,346,318 (GRCm39)	Y1526C	probably benign	Het
Cyp2a12	C	T	7: 26,730,640 (GRCm39)	Q202*	probably null	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Cyp2j13	G	A	4: 95,947,280 (GRCm39)	T257I	probably damaging	Het
Dnah8	T	A	17: 30,965,949 (GRCm39)	L2427Q	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Flvcr2	T	A	12: 85,829,756 (GRCm39)	V255D	probably damaging	Het
Galc	G	T	12: 98,197,731 (GRCm39)	T326K	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Glis1	C	T	4: 107,476,761 (GRCm39)	A306V	probably damaging	Het
Gm10638	A	G	8: 87,473,028 (GRCm39)		probably benign	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gm27048	C	T	8: 81,661,228 (GRCm39)		noncoding transcript	Het
Gm4204	T	C	1: 135,160,556 (GRCm39)		noncoding transcript	Het
Gm904	A	T	13: 50,799,325 (GRCm39)	I95F	possibly damaging	Het
Gvin3	T	G	7: 106,197,793 (GRCm39)		noncoding transcript	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ints11	G	A	4: 155,972,887 (GRCm39)	D526N	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Kcnj8	A	G	6: 142,512,221 (GRCm39)	S129P	probably damaging	Het
Kcnq3	A	G	15: 65,867,259 (GRCm39)	S795P	probably damaging	Het
Lhx8	G	T	3: 154,035,925 (GRCm39)	A22E	probably benign	Het
Lrp8	A	G	4: 107,664,006 (GRCm39)		probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Lvrn	T	C	18: 47,014,479 (GRCm39)	S526P	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mroh8	T	C	2: 157,070,647 (GRCm39)	E568G	probably benign	Het
Ms4a4b	C	A	19: 11,440,503 (GRCm39)		probably benign	Het
Muc2	T	C	7: 141,303,280 (GRCm39)	F99S	probably benign	Het
Myo5c	T	A	9: 75,180,825 (GRCm39)	I738N	probably damaging	Het
Naip6	A	C	13: 100,433,477 (GRCm39)	V1120G	probably damaging	Het
Ncl	T	C	1: 86,283,901 (GRCm39)	T307A	probably benign	Het
Npr1	A	T	3: 90,363,272 (GRCm39)	D869E	possibly damaging	Het
Nup93	A	G	8: 95,013,231 (GRCm39)	T36A	probably benign	Het
Olfml2b	C	A	1: 170,489,947 (GRCm39)	T189N	probably damaging	Het
Or4c12b	A	G	2: 89,647,312 (GRCm39)	N208S	possibly damaging	Het
Or8b9	T	C	9: 37,766,608 (GRCm39)	F165L	probably benign	Het
P4htm	A	C	9: 108,456,427 (GRCm39)	W458G	probably damaging	Het
Pdzrn4	G	T	15: 92,668,638 (GRCm39)	R930L	probably damaging	Het
Pgam5	G	A	5: 110,408,301 (GRCm39)	A240V	probably damaging	Het
Prex2	T	C	1: 11,220,129 (GRCm39)		probably benign	Het
Ptpru	T	G	4: 131,515,693 (GRCm39)	E897A	probably damaging	Het
Rapgef2	A	T	3: 78,981,670 (GRCm39)	N1256K	probably benign	Het
Rhbdl3	A	G	11: 80,210,439 (GRCm39)	E64G	probably benign	Het
Sel1l3	A	T	5: 53,289,184 (GRCm39)	L879Q	probably damaging	Het
Siah1a	G	T	8: 87,451,703 (GRCm39)	D260E	probably benign	Het
Skint6	T	C	4: 112,924,667 (GRCm39)	I522V	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Smok3c	T	C	5: 138,062,813 (GRCm39)	I100T	probably damaging	Het
Snx24	C	A	18: 53,518,295 (GRCm39)	Y141*	probably null	Het
Tigit	A	G	16: 43,469,594 (GRCm39)	S166P	probably damaging	Het
Tmem183a	C	T	1: 134,275,904 (GRCm39)	R324Q	probably benign	Het
Tmie	T	C	9: 110,696,001 (GRCm39)	D130G	possibly damaging	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Vmn2r111	T	C	17: 22,767,637 (GRCm39)	N620S	possibly damaging	Het
Vmn2r12	T	A	5: 109,240,852 (GRCm39)	N87I	probably damaging	Het
Vmn2r92	A	G	17: 18,404,605 (GRCm39)	D583G	probably benign	Het
Zdhhc17	T	C	10: 110,821,819 (GRCm39)	D60G	possibly damaging	Het

Other mutations in Gen1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCGAAAACTCTGAGGACTTCTC -3'
(R):5'- AACTGCGGGGCGAATACTTC -3'

Sequencing Primer
(F):5'- GAGGACTTCTCCCTAGATCTGAG -3'
(R):5'- TGCGGGGCGAATACTTCCTTAC -3'

Posted On

2016-03-17