Mutagenetix > Incidental Mutation

Incidental Mutation 'R7260:Gen1'

564561

Institutional Source

Beutler Lab

Gene Symbol

Gen1

Ensembl Gene

ENSMUSG00000051235

Gene Name

GEN1, Holliday junction 5' flap endonuclease

Synonyms

5830483C08Rik

MMRRC Submission

045352-MU

Accession Numbers

Essential gene?

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

Stock #

R7260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11288921-11315802 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11306849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 172 (M172R)

Ref Sequence

ENSEMBL: ENSMUSP00000132098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166117] [ENSMUST00000218259] [ENSMUST00000218487] [ENSMUST00000218547] [ENSMUST00000219600]

AlphaFold

Q8BMI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000166117
AA Change: M172R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: M172R

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 damaging
Transcript: ENSMUST00000218487
AA Change: M107R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218547
AA Change: M107R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000219600

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (78/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,849,882 (GRCm39)	S293P	probably benign	Het
Actn2	T	C	13: 12,291,376 (GRCm39)	N676S	probably benign	Het
Amfr	C	T	8: 94,702,776 (GRCm39)	M463I	possibly damaging	Het
Ankdd1a	G	T	9: 65,411,834 (GRCm39)	A325D	probably damaging	Het
Apba2	A	G	7: 64,389,493 (GRCm39)	D463G	probably damaging	Het
Arid5b	A	G	10: 67,933,637 (GRCm39)	V755A	probably damaging	Het
Boc	A	T	16: 44,310,533 (GRCm39)	F796I		Het
Ccnt1	G	A	15: 98,463,005 (GRCm39)	Q56*	probably null	Het
Cd248	T	A	19: 5,119,383 (GRCm39)	Y410*	probably null	Het
Chd9	T	A	8: 91,721,171 (GRCm39)	N986K	unknown	Het
Col6a6	T	C	9: 105,661,168 (GRCm39)	T314A	probably benign	Het
Cpped1	A	G	16: 11,646,327 (GRCm39)	F142L	possibly damaging	Het
Csmd1	C	T	8: 16,050,574 (GRCm39)	A2221T	probably damaging	Het
Cyp2c69	C	A	19: 39,831,344 (GRCm39)	V490L	probably benign	Het
Cyrib	A	T	15: 63,829,438 (GRCm39)	F23L	possibly damaging	Het
Dcst2	T	C	3: 89,273,593 (GRCm39)	F157S	probably damaging	Het
Ddx54	G	T	5: 120,764,985 (GRCm39)	R788L	probably benign	Het
Dnah1	T	C	14: 30,991,343 (GRCm39)	Y3145C	probably damaging	Het
Dnah14	A	T	1: 181,534,309 (GRCm39)	R2320W	probably damaging	Het
Dnai3	T	A	3: 145,752,295 (GRCm39)	M794L	probably benign	Het
Emilin2	T	C	17: 71,581,785 (GRCm39)	T314A	probably benign	Het
Eml2	A	G	7: 18,934,515 (GRCm39)	S405G	probably benign	Het
Ephb2	A	G	4: 136,498,885 (GRCm39)	F65L	probably damaging	Het
Fbn2	T	C	18: 58,199,188 (GRCm39)	D1360G	probably benign	Het
Fbxo22	A	G	9: 55,125,754 (GRCm39)	T206A	probably benign	Het
Filip1l	A	G	16: 57,391,287 (GRCm39)	E625G	probably damaging	Het
Gk5	A	G	9: 96,001,663 (GRCm39)	K54E	probably benign	Het
Glis3	T	C	19: 28,508,802 (GRCm39)	E394G	probably benign	Het
Helq	T	A	5: 100,939,793 (GRCm39)	E373D	probably damaging	Het
Ighv1-74	A	G	12: 115,766,372 (GRCm39)	F83L	probably benign	Het
Ints15	A	G	5: 143,297,594 (GRCm39)	V151A	probably benign	Het
Iqcn	T	C	8: 71,161,397 (GRCm39)	Y197H	probably benign	Het
Kdm4d	T	C	9: 14,374,454 (GRCm39)	D468G	probably benign	Het
Kif20b	A	G	19: 34,927,610 (GRCm39)	I957M	probably damaging	Het
Ldhal6b	A	G	17: 5,468,535 (GRCm39)	F133S	possibly damaging	Het
Loxhd1	T	C	18: 77,420,338 (GRCm39)	Y321H	possibly damaging	Het
Ltbp1	A	T	17: 75,373,139 (GRCm39)	M261L	probably benign	Het
Mical2	A	T	7: 111,919,001 (GRCm39)	Q430L	probably benign	Het
Mroh4	A	T	15: 74,479,978 (GRCm39)	N885K	possibly damaging	Het
Ms4a7	A	G	19: 11,299,710 (GRCm39)	Y231H	probably damaging	Het
Msh2	G	T	17: 88,025,047 (GRCm39)	V642F	probably damaging	Het
Muc5b	G	T	7: 141,396,385 (GRCm39)	A166S	unknown	Het
Myo18b	T	C	5: 112,923,154 (GRCm39)	I1868V	probably benign	Het
Nfatc3	T	C	8: 106,835,578 (GRCm39)	S975P	probably benign	Het
Oacyl	T	C	18: 65,831,438 (GRCm39)	L25P	probably damaging	Het
Or12e10	A	G	2: 87,640,731 (GRCm39)	N189S	probably damaging	Het
Or5b109	T	C	19: 13,212,388 (GRCm39)	F258S	probably damaging	Het
Or5w15	T	C	2: 87,568,852 (GRCm39)		probably null	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8a1	T	A	9: 37,642,049 (GRCm39)	I77F	probably damaging	Het
Patj	A	G	4: 98,304,970 (GRCm39)	I275V	possibly damaging	Het
Pdcd11	G	A	19: 47,117,673 (GRCm39)	R1674Q	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,604,759 (GRCm39)	Y55N	probably benign	Het
Pias4	A	G	10: 80,993,302 (GRCm39)	V207A	possibly damaging	Het
Plxna4	C	A	6: 32,216,455 (GRCm39)	R540L	possibly damaging	Het
Psapl1	G	A	5: 36,362,556 (GRCm39)	V383M	probably benign	Het
Rars1	C	A	11: 35,725,281 (GRCm39)	A10S	probably benign	Het
Rhobtb1	A	T	10: 69,106,610 (GRCm39)	K454*	probably null	Het
Rmnd1	A	T	10: 4,364,803 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Rngtt	T	C	4: 33,356,176 (GRCm39)	S338P	possibly damaging	Het
Sh3bgr	A	G	16: 96,025,681 (GRCm39)	E189G	unknown	Het
Slc30a3	G	A	5: 31,245,690 (GRCm39)	T281I	probably damaging	Het
Smok3c	T	A	5: 138,063,885 (GRCm39)	D457E	possibly damaging	Het
Stard9	C	A	2: 120,537,419 (GRCm39)	Q4274K	possibly damaging	Het
Syne2	G	T	12: 75,991,853 (GRCm39)	L1938F	probably damaging	Het
Tmem70	C	A	1: 16,735,590 (GRCm39)	T20K	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,813 (GRCm39)	E1502G	probably benign	Het
Tpp1	A	T	7: 105,396,704 (GRCm39)	S438T	probably benign	Het
Tubb2a	T	A	13: 34,259,397 (GRCm39)	Q131L	probably damaging	Het
Ube2v1	A	G	2: 167,471,114 (GRCm39)	S26P	probably benign	Het
Unc13a	G	T	8: 72,113,229 (GRCm39)	S207R	possibly damaging	Het
Usp35	T	G	7: 96,969,286 (GRCm39)	D362A	probably damaging	Het
Utp20	A	G	10: 88,587,334 (GRCm39)	I2487T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r117	T	A	17: 23,694,359 (GRCm39)	H496L	probably benign	Het
Vmn2r92	C	T	17: 18,387,138 (GRCm39)	A159V	probably damaging	Het
Wiz	T	C	17: 32,578,085 (GRCm39)	K467E	probably damaging	Het
Zfp534	T	C	4: 147,759,461 (GRCm39)	T403A	probably benign	Het
Zswim5	T	C	4: 116,819,843 (GRCm39)	L416P	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
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'- AGATGGTTTAGTGGTTGCTCATACTAC -3'
(R):5'- CTTGTTTCAGTGCCTTGAAATGC -3'

Sequencing Primer
(F):5'- GTTCAGTTCCAAGTACCCATGTAAGG -3'
(R):5'- CAGTGCCTTGAAATGCTCGAG -3'

Posted On

2019-06-26