Mutagenetix > Incidental Mutation

Incidental Mutation 'R7316:Eme2'

568011

Institutional Source

Beutler Lab

Gene Symbol

Eme2

Ensembl Gene

ENSMUSG00000073436

Gene Name

essential meiotic structure-specific endonuclease subunit 2

Synonyms

2810013J18Rik

MMRRC Submission

045413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25111126-25114061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25113840 bp (GRCm39)

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] [ENSMUST00000121542] [ENSMUST00000117509] [ENSMUST00000117890] [ENSMUST00000119115] [ENSMUST00000119829] [ENSMUST00000119848] [ENSMUST00000120035] [ENSMUST00000120943] [ENSMUST00000121723] [ENSMUST00000121787] [ENSMUST00000130194] [ENSMUST00000139754] [ENSMUST00000144430] [ENSMUST00000146923] [ENSMUST00000154236] [ENSMUST00000168265] [ENSMUST00000178969]

AlphaFold

Q56A04

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 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: 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 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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,969,020 (GRCm39)	M214I	probably benign	Het
Aadat	G	T	8: 60,979,668 (GRCm39)	G177C	probably damaging	Het
Adam4	T	C	12: 81,466,498 (GRCm39)	I708V	probably benign	Het
Aip	T	C	19: 4,164,793 (GRCm39)	N264S	probably benign	Het
Alox8	A	T	11: 69,077,064 (GRCm39)	D505E	probably benign	Het
Ap3d1	A	T	10: 80,553,693 (GRCm39)	I518N	probably damaging	Het
Arf3	G	A	15: 98,638,874 (GRCm39)	Q128*	probably null	Het
Asph	A	G	4: 9,537,746 (GRCm39)	V344A	probably benign	Het
Birc6	A	T	17: 74,911,489 (GRCm39)	R1500S	probably damaging	Het
Bptf	G	A	11: 106,963,935 (GRCm39)	T1753I	probably damaging	Het
Bptf	A	T	11: 107,001,740 (GRCm39)	C457*	probably null	Het
Brpf3	T	A	17: 29,033,660 (GRCm39)	I568N	probably damaging	Het
Btnl4	G	C	17: 34,688,031 (GRCm39)	N582K	probably benign	Het
Camsap3	C	A	8: 3,654,648 (GRCm39)	P773T	possibly damaging	Het
Capsl	A	T	15: 9,461,888 (GRCm39)	I95L	probably benign	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cdan1	A	T	2: 120,558,813 (GRCm39)		probably null	Het
Chd3	A	T	11: 69,236,394 (GRCm39)	L1939Q	probably damaging	Het
Cngb3	A	T	4: 19,425,599 (GRCm39)	Y469F	probably benign	Het
Cp	T	C	3: 20,026,916 (GRCm39)	L448P	probably damaging	Het
Csnk1g2	T	C	10: 80,475,687 (GRCm39)	V418A	possibly damaging	Het
Dag1	A	T	9: 108,086,701 (GRCm39)	S147T	probably benign	Het
Dnajc25	T	A	4: 59,017,693 (GRCm39)	Y117*	probably null	Het
Dpysl2	A	T	14: 67,100,044 (GRCm39)	M64K	possibly damaging	Het
Dus3l	A	G	17: 57,072,551 (GRCm39)	H38R	possibly damaging	Het
Enox1	A	T	14: 77,958,298 (GRCm39)	M616L	probably benign	Het
Epb41l4b	T	A	4: 57,019,867 (GRCm39)	T708S	probably benign	Het
Fat2	A	T	11: 55,176,893 (GRCm39)	I1534N	probably damaging	Het
Fer1l5	A	G	1: 36,457,197 (GRCm39)	T1649A	probably benign	Het
Fmo9	A	G	1: 166,491,215 (GRCm39)	V421A	probably benign	Het
Fsip2	A	C	2: 82,820,035 (GRCm39)	Y5256S	possibly damaging	Het
Gapvd1	G	A	2: 34,594,681 (GRCm39)	L804F	probably damaging	Het
Garin1a	A	G	6: 29,286,101 (GRCm39)	M187V	probably benign	Het
Gen1	A	G	12: 11,291,470 (GRCm39)	V838A	probably benign	Het
Gnptab	A	T	10: 88,236,572 (GRCm39)	N59I	probably damaging	Het
Grm5	A	G	7: 87,624,473 (GRCm39)	T347A	probably benign	Het
Gsdmc3	T	C	15: 63,730,251 (GRCm39)	N438D	possibly damaging	Het
Hmcn1	A	G	1: 150,608,697 (GRCm39)	L1495S	probably damaging	Het
Ift70a1	A	T	2: 75,811,201 (GRCm39)	L294Q	probably damaging	Het
Islr2	T	C	9: 58,105,250 (GRCm39)	E714G	probably damaging	Het
Larp4	A	T	15: 99,898,898 (GRCm39)	M430L	probably benign	Het
Lpcat2b	A	G	5: 107,580,979 (GRCm39)	I103V	not run	Het
Lrguk	C	T	6: 34,080,191 (GRCm39)	S1142F	unknown	Het
Lrit2	G	T	14: 36,790,815 (GRCm39)	V165F	probably damaging	Het
Mast3	T	A	8: 71,232,432 (GRCm39)	I1182F	probably damaging	Het
Mcm6	C	T	1: 128,287,245 (GRCm39)	D20N	probably damaging	Het
Mief1	A	G	15: 80,133,598 (GRCm39)	I218M	probably damaging	Het
Mmp2	A	G	8: 93,567,038 (GRCm39)	T453A	probably benign	Het
Ms4a18	T	A	19: 10,979,360 (GRCm39)	S219C	probably damaging	Het
Myo5c	A	T	9: 75,176,920 (GRCm39)	T622S	probably benign	Het
Neb	A	T	2: 52,161,450 (GRCm39)	M2114K	possibly damaging	Het
Nemp1	T	A	10: 127,525,212 (GRCm39)	L122*	probably null	Het
Nkx2-1	T	C	12: 56,581,583 (GRCm39)	N88S	probably benign	Het
Nr2c2	T	A	6: 92,131,444 (GRCm39)	C202S	probably damaging	Het
Ntsr1	A	C	2: 180,142,545 (GRCm39)	D112A	probably damaging	Het
Or14j3	A	G	17: 37,901,026 (GRCm39)	S73P	probably damaging	Het
Or56a41	A	T	7: 104,740,107 (GRCm39)	H246Q	probably damaging	Het
Or6n2	A	T	1: 173,897,727 (GRCm39)	I288F	probably benign	Het
Osbp2	C	A	11: 3,676,431 (GRCm39)	R73L	probably damaging	Het
Pbp2	T	A	6: 135,286,830 (GRCm39)	E172D	probably damaging	Het
Pcdhgc3	T	C	18: 37,941,501 (GRCm39)	I634T	probably benign	Het
Pcnx1	T	C	12: 82,042,323 (GRCm39)	S38P	probably benign	Het
Phyh	A	T	2: 4,940,855 (GRCm39)	K252*	probably null	Het
Plcb3	C	T	19: 6,943,753 (GRCm39)		probably null	Het
Ppargc1b	T	C	18: 61,440,909 (GRCm39)	S670G	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Ptprc	T	C	1: 137,992,509 (GRCm39)	Y1067C	probably damaging	Het
Pwwp2b	A	C	7: 138,836,140 (GRCm39)	E527A	probably benign	Het
Pzp	T	C	6: 128,490,736 (GRCm39)	D409G	probably damaging	Het
Rbfox2	A	T	15: 77,016,929 (GRCm39)	N148K	possibly damaging	Het
Resf1	T	C	6: 149,228,136 (GRCm39)	L394P	probably damaging	Het
Rps24	T	C	14: 24,540,757 (GRCm39)		probably benign	Het
Slc35e4	T	C	11: 3,862,584 (GRCm39)	K202E	probably damaging	Het
Spata7	C	T	12: 98,624,871 (GRCm39)	R258W	probably damaging	Het
Spen	A	T	4: 141,204,365 (GRCm39)	S1421T	unknown	Het
Svep1	T	A	4: 58,068,763 (GRCm39)	I3008F	possibly damaging	Het
Tbc1d1	G	T	5: 64,492,620 (GRCm39)		probably null	Het
Thsd4	T	A	9: 59,894,642 (GRCm39)	H772L	probably benign	Het
Tle1	T	C	4: 72,036,529 (GRCm39)	I769V	probably benign	Het
Tm4sf19	T	A	16: 32,226,466 (GRCm39)	S127T	possibly damaging	Het
Tmprss9	C	A	10: 80,730,813 (GRCm39)	R780S	probably benign	Het
Tpp2	T	C	1: 44,009,591 (GRCm39)	V475A	probably benign	Het
Ttn	A	G	2: 76,692,509 (GRCm39)	V471A		Het
Ttn	A	T	2: 76,597,257 (GRCm39)	N19885K	probably damaging	Het
Tub	A	T	7: 108,629,378 (GRCm39)	T478S	possibly damaging	Het
Ube2q2l	T	C	6: 136,378,276 (GRCm39)	K185E	possibly damaging	Het
Vmn2r88	A	T	14: 51,651,712 (GRCm39)	Y342F		Het
Wdr18	C	A	10: 79,801,059 (GRCm39)	D157E	probably benign	Het
Xrra1	A	T	7: 99,525,423 (GRCm39)		probably null	Het
Zc3h4	G	C	7: 16,169,260 (GRCm39)	G1198A	unknown	Het
Zfp568	A	T	7: 29,721,681 (GRCm39)	I209F	possibly damaging	Het
Zfp787	C	A	7: 6,158,523 (GRCm39)		probably benign	Het
Zfp974	A	T	7: 27,609,863 (GRCm39)	Y621N	possibly damaging	Het
Zyg11b	A	G	4: 108,107,699 (GRCm39)	I493T	possibly damaging	Het

Other mutations in Eme2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01122:Eme2	APN	17	25,112,320 (GRCm39)	missense	possibly damaging	0.53
R0930:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1163:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1302:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1386:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1398:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1522:Eme2	UTSW	17	25,111,892 (GRCm39)	missense	probably damaging	1.00
R1762:Eme2	UTSW	17	25,112,367 (GRCm39)	missense	probably benign	0.00
R2327:Eme2	UTSW	17	25,113,157 (GRCm39)	missense	probably damaging	1.00
R4410:Eme2	UTSW	17	25,112,598 (GRCm39)	missense	probably benign	0.05
R4635:Eme2	UTSW	17	25,113,882 (GRCm39)	missense	probably benign	0.12
R7285:Eme2	UTSW	17	25,113,543 (GRCm39)	critical splice donor site	probably null
R7315:Eme2	UTSW	17	25,113,840 (GRCm39)	missense	probably damaging	1.00
R8112:Eme2	UTSW	17	25,113,809 (GRCm39)	missense	probably damaging	1.00
R8687:Eme2	UTSW	17	25,113,813 (GRCm39)	missense	possibly damaging	0.84
R9258:Eme2	UTSW	17	25,112,053 (GRCm39)	missense	probably damaging	1.00
R9285:Eme2	UTSW	17	25,108,132 (GRCm39)	intron	probably benign
R9517:Eme2	UTSW	17	25,114,033 (GRCm39)	unclassified	probably benign
Z1088:Eme2	UTSW	17	25,113,541 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCATCTTCCAGGACAGCTG -3'
(R):5'- AAAAGCATCCGGGTACGTCC -3'

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

Posted On

2019-06-26