Mutagenetix > Incidental Mutations

Incidental Mutation 'R7315:Eme2'

567918

Institutional Source

Beutler Lab

Gene Symbol

Eme2

Ensembl Gene

ENSMUSG00000073436

Gene Name

essential meiotic structure-specific endonuclease subunit 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24888486-24895087 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24894866 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 62 (R62W)

Ref Sequence

ENSEMBL: ENSMUSP00000113936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000024978] [ENSMUST00000043907] [ENSMUST00000068508] [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000117509] [ENSMUST00000117890] [ENSMUST00000119115] [ENSMUST00000119829] [ENSMUST00000119848] [ENSMUST00000120035] [ENSMUST00000121542] [ENSMUST00000120943] [ENSMUST00000121723] [ENSMUST00000121787] [ENSMUST00000130194] [ENSMUST00000139754] [ENSMUST00000144430] [ENSMUST00000146923] [ENSMUST00000154236] [ENSMUST00000168265] [ENSMUST00000178969]

Predicted Effect

probably benign
Transcript: ENSMUST00000024976

SMART Domains

Protein: ENSMUSP00000024976
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	34	45	N/A	INTRINSIC
low complexity region	52	65	N/A	INTRINSIC
low complexity region	73	84	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
Pfam:SPRY	181	304	5.7e-18	PFAM
SOCS_box	309	347	2.8e0	SMART
low complexity region	364	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000024978

SMART Domains

Protein: ENSMUSP00000024978
Gene: ENSMUSG00000073435

Domain	Start	End	E-Value	Type
NDK	21	158	1.06e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000043907

SMART Domains

Protein: ENSMUSP00000045111
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
Pfam:MRP-S34	61	187	5.3e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000068508

SMART Domains

Protein: ENSMUSP00000068567
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	252	1.3e-13	PFAM
low complexity region	295	308	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000088345

SMART Domains

Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115228

SMART Domains

Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	411	466	7e-20	PDB
low complexity region	567	581	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	878	886	N/A	INTRINSIC
low complexity region	913	925	N/A	INTRINSIC
SCOP:d1flga_	972	1152	3e-8	SMART
Blast:WD40	1060	1101	6e-18	BLAST
low complexity region	1245	1261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115229

SMART Domains

Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	184	2.9e-60	PFAM
low complexity region	244	257	N/A	INTRINSIC
low complexity region	269	278	N/A	INTRINSIC
Pfam:JIP_LZII	423	493	3.1e-32	PFAM
coiled coil region	533	563	N/A	INTRINSIC
low complexity region	590	604	N/A	INTRINSIC
low complexity region	762	777	N/A	INTRINSIC
low complexity region	901	909	N/A	INTRINSIC
low complexity region	936	948	N/A	INTRINSIC
SCOP:d1flga_	995	1175	4e-8	SMART
Blast:WD40	1083	1124	7e-18	BLAST
low complexity region	1268	1284	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117509

SMART Domains

Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	238	247	N/A	INTRINSIC
PDB:2W83\|D	394	449	7e-20	PDB
coiled coil region	502	532	N/A	INTRINSIC
low complexity region	559	573	N/A	INTRINSIC
low complexity region	731	746	N/A	INTRINSIC
low complexity region	870	878	N/A	INTRINSIC
low complexity region	905	917	N/A	INTRINSIC
SCOP:d1flga_	964	1144	3e-8	SMART
Blast:WD40	1052	1093	6e-18	BLAST
low complexity region	1237	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117890

SMART Domains

Protein: ENSMUSP00000112380
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119115

SMART Domains

Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.3e-72	PFAM
low complexity region	229	238	N/A	INTRINSIC
PDB:2W83\|D	385	440	7e-20	PDB
coiled coil region	493	523	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	861	869	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
SCOP:d1flga_	955	1135	3e-8	SMART
Blast:WD40	1043	1084	5e-18	BLAST
low complexity region	1228	1244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119829

SMART Domains

Protein: ENSMUSP00000112589
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	294	6.9e-16	PFAM
SOCS_box	299	337	2.8e0	SMART
low complexity region	354	363	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119848
AA Change: R62W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
AA Change: R62W

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	8.51e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120035

SMART Domains

Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	235	248	N/A	INTRINSIC
low complexity region	260	269	N/A	INTRINSIC
PDB:2W83\|D	416	471	6e-20	PDB
coiled coil region	524	554	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	753	768	N/A	INTRINSIC
low complexity region	892	900	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC
SCOP:d1flga_	986	1166	3e-8	SMART
Blast:WD40	1074	1115	6e-18	BLAST
low complexity region	1259	1275	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121542
AA Change: R62W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
AA Change: R62W

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC
ERCC4	71	320	1.4e-23	SMART
low complexity region	366	373	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120943

SMART Domains

Protein: ENSMUSP00000112492
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
low complexity region	98	109	N/A	INTRINSIC
Pfam:SPRY	146	269	1.6e-18	PFAM
SOCS_box	274	312	2.8e0	SMART
low complexity region	329	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121723

SMART Domains

Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1e-72	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	386	441	7e-20	PDB
coiled coil region	494	524	N/A	INTRINSIC
low complexity region	551	565	N/A	INTRINSIC
low complexity region	723	738	N/A	INTRINSIC
low complexity region	862	870	N/A	INTRINSIC
low complexity region	897	909	N/A	INTRINSIC
SCOP:d1flga_	956	1136	3e-8	SMART
Blast:WD40	1044	1085	5e-18	BLAST
low complexity region	1229	1245	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121787

SMART Domains

Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	3.8e-73	PFAM
low complexity region	230	239	N/A	INTRINSIC
PDB:2W83\|D	380	435	8e-20	PDB
coiled coil region	488	518	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
low complexity region	717	732	N/A	INTRINSIC
low complexity region	856	864	N/A	INTRINSIC
low complexity region	891	903	N/A	INTRINSIC
SCOP:d1flga_	950	1130	3e-8	SMART
Blast:WD40	1038	1079	6e-18	BLAST
low complexity region	1223	1239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130194

SMART Domains

Protein: ENSMUSP00000119896
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	17	30	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139754
AA Change: R62W

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436
AA Change: R62W

Domain	Start	End	E-Value	Type
low complexity region	13	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144430

SMART Domains

Protein: ENSMUSP00000117226
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	43	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146923

SMART Domains

Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.4e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	4e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154236

SMART Domains

Protein: ENSMUSP00000120985
Gene: ENSMUSG00000038880

Domain	Start	End	E-Value	Type
low complexity region	9	25	N/A	INTRINSIC
low complexity region	59	79	N/A	INTRINSIC
Blast:NDK	172	208	3e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168265

SMART Domains

Protein: ENSMUSP00000126878
Gene: ENSMUSG00000024160

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
low complexity region	184	195	N/A	INTRINSIC
low complexity region	244	255	N/A	INTRINSIC
Pfam:SPRY	294	416	5.8e-20	PFAM
SOCS_box	420	458	2.8e0	SMART
low complexity region	475	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178969

SMART Domains

Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163

Domain	Start	End	E-Value	Type
Pfam:Jnk-SapK_ap_N	29	186	1.1e-72	PFAM
low complexity region	236	249	N/A	INTRINSIC
low complexity region	261	270	N/A	INTRINSIC
PDB:2W83\|D	417	472	6e-20	PDB
coiled coil region	525	555	N/A	INTRINSIC
low complexity region	582	596	N/A	INTRINSIC
low complexity region	754	769	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	928	940	N/A	INTRINSIC
SCOP:d1flga_	987	1167	3e-8	SMART
Blast:WD40	1075	1116	6e-18	BLAST
low complexity region	1260	1276	N/A	INTRINSIC

Meta Mutation Damage Score

0.1976

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rbl2	A	T	8: 91,076,012	T154S	probably damaging	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	Het

Other mutations in Eme2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Eme2	APN	17	24893346	missense	possibly damaging	0.53
R0930:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1163:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1302:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1386:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1398:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1522:Eme2	UTSW	17	24892918	missense	probably damaging	1.00
R1762:Eme2	UTSW	17	24893393	missense	probably benign	0.00
R2327:Eme2	UTSW	17	24894183	missense	probably damaging	1.00
R4410:Eme2	UTSW	17	24893624	missense	probably benign	0.05
R4635:Eme2	UTSW	17	24894908	missense	probably benign	0.12
R7285:Eme2	UTSW	17	24894569	critical splice donor site	probably null
R7316:Eme2	UTSW	17	24894866	missense	probably damaging	1.00
R8112:Eme2	UTSW	17	24894835	missense	probably damaging	1.00
Z1088:Eme2	UTSW	17	24894567	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTTCCAGGACAGCTGGATC -3'
(R):5'- ACAAAAGCATCCGGGTACG -3'

Sequencing Primer
(F):5'- CCCAGCAGGCACATTGAGTTATTC -3'
(R):5'- TACGTCCGGAAGCTTCAGG -3'

Posted On

2019-06-26