Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Gen1'

706159

Institutional Source

Beutler Lab

Gene Symbol

Gen1

Ensembl Gene

ENSMUSG00000051235

Gene Name

GEN1, Holliday junction 5' flap endonuclease

Synonyms

5830483C08Rik

MMRRC Submission

068834-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9004 (G1)

Quality Score

191.009

Status

Validated

Chromosome

Chromosomal Location

11288921-11315802 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 11305022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218259] [ENSMUST00000218487] [ENSMUST00000218547]

AlphaFold

Q8BMI4

Predicted Effect

probably benign
Transcript: ENSMUST00000166117

SMART Domains

Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235

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: ENSMUST00000218259

Predicted Effect

probably benign
Transcript: ENSMUST00000218487

Predicted Effect

probably benign
Transcript: ENSMUST00000218547

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,454,197 (GRCm39)		probably benign	Het
2310057N15Rik	C	A	16: 88,570,986 (GRCm39)	C18F	probably damaging	Het
Abca7	T	A	10: 79,841,483 (GRCm39)	M941K	probably damaging	Het
Abcd2	A	G	15: 91,075,051 (GRCm39)	I254T	probably benign	Het
Abcg8	C	A	17: 85,004,790 (GRCm39)	T519K	probably benign	Het
Adcy9	A	G	16: 4,106,378 (GRCm39)	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,109,894 (GRCm39)	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,279,921 (GRCm39)	D529G	probably damaging	Het
Ascc3	T	A	10: 50,718,276 (GRCm39)	C1990S	probably benign	Het
BC034090	T	A	1: 155,102,138 (GRCm39)	N42I	possibly damaging	Het
Bptf	G	A	11: 106,945,713 (GRCm39)	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,225,662 (GRCm39)	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883 (GRCm39)	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,557,722 (GRCm39)	N268D	probably benign	Het
Cep152	T	C	2: 125,453,020 (GRCm39)	S351G	probably benign	Het
Chrm1	T	C	19: 8,655,909 (GRCm39)	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,449,430 (GRCm39)	D454E	probably benign	Het
Dmbt1	T	C	7: 130,713,798 (GRCm39)	L1622P	unknown	Het
Eif2s2	A	G	2: 154,720,404 (GRCm39)	Y172H	probably benign	Het
Ell	T	A	8: 71,031,604 (GRCm39)	S101T	probably damaging	Het
Faf1	A	G	4: 109,698,550 (GRCm39)	T337A	probably benign	Het
Fhad1	A	T	4: 141,649,735 (GRCm39)		probably benign	Het
Gfap	A	G	11: 102,782,268 (GRCm39)	I414T	probably benign	Het
Ginm1	A	C	10: 7,651,019 (GRCm39)	V129G	probably damaging	Het
Helq	C	T	5: 100,926,598 (GRCm39)		probably benign	Het
Hoxb3	A	G	11: 96,237,137 (GRCm39)	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,659,045 (GRCm39)	V584A	probably damaging	Het
Iglc2	T	C	16: 19,017,425 (GRCm39)	K59R	probably benign	Het
Inhba	T	C	13: 16,201,526 (GRCm39)	S363P	probably benign	Het
Kif1c	A	G	11: 70,615,958 (GRCm39)	K656E	probably benign	Het
Mroh4	G	T	15: 74,486,171 (GRCm39)	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Naaladl1	C	A	19: 6,155,965 (GRCm39)	D46E	probably damaging	Het
Nbea	C	T	3: 55,910,359 (GRCm39)	V1279I	probably benign	Het
Nceh1	T	A	3: 27,293,726 (GRCm39)	D161E	possibly damaging	Het
Nck2	A	T	1: 43,593,510 (GRCm39)	N239I		Het
Nlrx1	C	T	9: 44,167,644 (GRCm39)	R751H	probably benign	Het
Or10ag54	T	A	2: 87,099,695 (GRCm39)	F190Y	possibly damaging	Het
Or8b46	A	G	9: 38,450,530 (GRCm39)	Y113C	probably benign	Het
Or8g17	C	A	9: 38,930,580 (GRCm39)	V86L	probably benign	Het
Oscar	A	T	7: 3,619,040 (GRCm39)	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,763,979 (GRCm39)	I511F	probably damaging	Het
Pappa2	T	C	1: 158,764,518 (GRCm39)	D331G	possibly damaging	Het
Pde4c	C	T	8: 71,199,515 (GRCm39)	S265L	possibly damaging	Het
Pex1	A	G	5: 3,662,914 (GRCm39)	S502G	probably benign	Het
Pigl	A	G	11: 62,403,779 (GRCm39)	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,799,421 (GRCm39)	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,406,768 (GRCm39)	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,008,513 (GRCm39)	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,441,849 (GRCm39)	Y11H	probably damaging	Het
Prss54	C	A	8: 96,292,137 (GRCm39)	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,732,687 (GRCm39)	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,608,314 (GRCm39)	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,697,771 (GRCm39)		probably benign	Het
Sdad1	T	C	5: 92,439,820 (GRCm39)	T402A	probably benign	Het
Stk32c	T	C	7: 138,702,859 (GRCm39)	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,178,109 (GRCm39)	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,704,018 (GRCm39)	E105V	probably benign	Het
Tlk1	A	G	2: 70,552,290 (GRCm39)	I520T	probably damaging	Het
Tmf1	A	G	6: 97,152,738 (GRCm39)	V445A	probably benign	Het
Tomm6	T	C	17: 47,998,833 (GRCm39)	D40G	possibly damaging	Het
Traf6	C	A	2: 101,520,443 (GRCm39)	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,670,284 (GRCm39)	H150R		Het
Ube2g2	A	T	10: 77,479,434 (GRCm39)	M126L	probably benign	Het
Unc45b	A	G	11: 82,819,515 (GRCm39)	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,580,840 (GRCm39)	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,650,624 (GRCm39)	L112F		Het
Wwc2	A	C	8: 48,373,732 (GRCm39)	L45V	probably damaging	Het
Zfp459	A	C	13: 67,556,714 (GRCm39)	I123R	probably 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
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
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'- ATTTTGATTAGTTGGCCAAGCACG -3'
(R):5'- TTGGACTGGCCGTACTTCTG -3'

Sequencing Primer
(F):5'- CACGCATGTCAATGTCTTCTGAGG -3'
(R):5'- CTGGGTTGTGATTACCTTCCAAAG -3'

Posted On

2022-04-06