Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Gen1'

342217

Institutional Source

Beutler Lab

Gene Symbol

Gen1

Ensembl Gene

ENSMUSG00000051235

Gene Name

GEN1, Holliday junction 5' flap endonuclease

Synonyms

5830483C08Rik

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R4572 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11238920-11265801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11242418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 457 (S457P)

Ref Sequence

ENSEMBL: ENSMUSP00000151310 (fasta)

Gene Model

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

AlphaFold

Q8BMI4

Predicted Effect

probably damaging
Transcript: ENSMUST00000166117
AA Change: S522P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132098
Gene: ENSMUSG00000051235
AA Change: S522P

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 damaging
Transcript: ENSMUST00000218487
AA Change: S457P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000218547

Meta Mutation Damage Score

0.0608

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Srcin1	A	C	11: 97,534,934	D432E	probably damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	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
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
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
R9482:Gen1	UTSW	12	11255185	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CAGTAATCACAGAGATGTCATGGG -3'
(R):5'- GTGCTTACAGGAATGTACTGGG -3'

Sequencing Primer
(F):5'- GAGGAAGAGCTGGGCTGACTAC -3'
(R):5'- CTTACAGGAATGTACTGGGTAGTG -3'

Posted On

2015-09-24