Mutagenetix > Incidental Mutation

Incidental Mutation 'R9258:Eme2'

702066

Institutional Source

Beutler Lab

Gene Symbol

Eme2

Ensembl Gene

ENSMUSG00000073436

Gene Name

essential meiotic structure-specific endonuclease subunit 2

Synonyms

2810013J18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R9258 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25111126-25114061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25112053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 241 (V241M)

Ref Sequence

ENSEMBL: ENSMUSP00000113936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024976] [ENSMUST00000024978] [ENSMUST00000043907] [ENSMUST00000068508] [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000121542] [ENSMUST00000117509] [ENSMUST00000117890] [ENSMUST00000119829] [ENSMUST00000119848] [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: V241M

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

SMART Domains

Protein: ENSMUSP00000113936
Gene: ENSMUSG00000073436
AA Change: V241M

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: 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: V241M

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

SMART Domains

Protein: ENSMUSP00000113167
Gene: ENSMUSG00000073436
AA Change: V241M

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: 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 benign
Transcript: ENSMUST00000139754

SMART Domains

Protein: ENSMUSP00000118245
Gene: ENSMUSG00000073436

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	A	8: 124,709,347 (GRCm39)	Q69L	probably benign	Het
Abtb2	A	C	2: 103,546,410 (GRCm39)	Q930P	probably null	Het
Adam18	G	A	8: 25,158,574 (GRCm39)	T73I	probably benign	Het
Ankrd54	A	T	15: 78,946,996 (GRCm39)	M1K	probably null	Het
Anks1	T	C	17: 28,277,400 (GRCm39)	V1106A	probably damaging	Het
Aox1	A	T	1: 58,351,515 (GRCm39)	I701F	probably damaging	Het
Arfgef3	C	T	10: 18,465,387 (GRCm39)	R2152H	probably damaging	Het
Arnt2	C	T	7: 84,010,798 (GRCm39)	G37E	probably damaging	Het
Arpp21	G	A	9: 111,953,956 (GRCm39)	T581M	probably benign	Het
Arvcf	A	G	16: 18,216,957 (GRCm39)	N428S	probably damaging	Het
C2cd3	A	G	7: 100,098,026 (GRCm39)	E1471G		Het
Cadm1	A	G	9: 47,710,730 (GRCm39)	K211R	probably benign	Het
Cdh6	A	G	15: 13,064,462 (GRCm39)	S143P	probably damaging	Het
Cep152	G	A	2: 125,421,356 (GRCm39)	Q1125*	probably null	Het
Cfap54	A	C	10: 92,770,960 (GRCm39)	S2095A	unknown	Het
Col12a1	T	C	9: 79,613,645 (GRCm39)	T67A	probably benign	Het
Col6a3	T	C	1: 90,700,703 (GRCm39)	N3216S	unknown	Het
Cpeb2	T	A	5: 43,391,455 (GRCm39)	L217Q		Het
Ctbp2	A	T	7: 132,597,021 (GRCm39)	N119K	probably damaging	Het
Des	G	T	1: 75,340,289 (GRCm39)	V399L	probably benign	Het
Dnah2	G	T	11: 69,368,079 (GRCm39)	H1753Q	probably damaging	Het
Dnajc6	T	C	4: 101,475,813 (GRCm39)	V562A	probably benign	Het
Dusp13b	T	C	14: 21,791,155 (GRCm39)	D99G	probably benign	Het
Ehd3	A	G	17: 74,127,561 (GRCm39)	I165V	probably benign	Het
Eml5	A	G	12: 98,810,376 (GRCm39)	L860P	possibly damaging	Het
Eogt	T	A	6: 97,089,043 (GRCm39)	K521M	possibly damaging	Het
Epb41l5	T	C	1: 119,506,701 (GRCm39)	T489A	probably benign	Het
Fmo5	G	T	3: 97,558,802 (GRCm39)	V421L	probably benign	Het
Gabpa	C	T	16: 84,653,403 (GRCm39)	P268S	probably benign	Het
Gas2l3	G	T	10: 89,262,315 (GRCm39)	H136N	probably benign	Het
Gm5592	C	T	7: 40,938,407 (GRCm39)	A563V	possibly damaging	Het
Gpn3	A	T	5: 122,519,508 (GRCm39)	D205V	probably benign	Het
H13	T	C	2: 152,522,999 (GRCm39)	L104S	probably damaging	Het
H2-Q4	T	A	17: 35,599,105 (GRCm39)	V125E	probably benign	Het
Ifih1	A	G	2: 62,442,242 (GRCm39)	F374S	probably damaging	Het
Ildr2	A	G	1: 166,131,158 (GRCm39)	D338G	probably damaging	Het
Kmt2b	A	T	7: 30,281,893 (GRCm39)	N1162K	probably null	Het
Lmntd1	T	C	6: 145,359,256 (GRCm39)	D298G	probably damaging	Het
Lrrc32	T	A	7: 98,148,345 (GRCm39)	V375E	probably benign	Het
Lrrc37a	A	C	11: 103,393,022 (GRCm39)	I801R	probably benign	Het
Matcap1	A	G	8: 106,008,775 (GRCm39)	V414A	probably damaging	Het
Mgam	A	G	6: 40,657,121 (GRCm39)	E935G	probably benign	Het
Mms22l	A	T	4: 24,588,238 (GRCm39)	T917S	probably damaging	Het
Myo3a	A	T	2: 22,467,545 (GRCm39)	E1204D	possibly damaging	Het
Nav3	T	A	10: 109,550,243 (GRCm39)	E1829V	probably damaging	Het
Nccrp1	C	T	7: 28,245,632 (GRCm39)	G150D	probably damaging	Het
Nlrp4b	G	T	7: 10,444,087 (GRCm39)	W12L	probably damaging	Het
Nmb	T	C	7: 80,554,001 (GRCm39)	T71A	possibly damaging	Het
Ogfod2	T	A	5: 124,250,505 (GRCm39)	H35Q	probably benign	Het
Ola1	A	T	2: 72,929,732 (GRCm39)	S290R	probably damaging	Het
Or1e30	T	G	11: 73,678,281 (GRCm39)	N172K	probably benign	Het
Or4k47	A	T	2: 111,452,329 (GRCm39)	I30N	possibly damaging	Het
Or51v15-ps1	T	G	7: 103,278,543 (GRCm39)	Y208S	unknown	Het
Or52e2	C	A	7: 102,804,409 (GRCm39)	E182*	probably null	Het
Or5p68	T	G	7: 107,945,886 (GRCm39)	T101P	probably benign	Het
Or9i14	A	T	19: 13,792,099 (GRCm39)	L285*	probably null	Het
Pcsk9	T	C	4: 106,316,047 (GRCm39)	D132G	possibly damaging	Het
Pkhd1	A	T	1: 20,444,174 (GRCm39)	V2296E	probably damaging	Het
Prl2c5	A	T	13: 13,365,297 (GRCm39)	I151L	probably damaging	Het
Prl3d3	A	T	13: 27,344,931 (GRCm39)	D101V	possibly damaging	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Rasal1	A	T	5: 120,793,155 (GRCm39)	I87F	possibly damaging	Het
Rpgrip1l	A	T	8: 91,987,614 (GRCm39)	Y814*	probably null	Het
Rpl3l	T	G	17: 24,951,447 (GRCm39)		probably null	Het
Rrbp1	C	A	2: 143,853,161 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,364 (GRCm39)	S4158P	probably damaging	Het
Scube2	G	T	7: 109,398,515 (GRCm39)	S951Y	probably damaging	Het
Sec14l1	T	C	11: 117,041,002 (GRCm39)	V396A	probably benign	Het
Sh3gl1	T	A	17: 56,325,911 (GRCm39)	K173*	probably null	Het
Shank3	A	T	15: 89,388,521 (GRCm39)	E371V	probably damaging	Het
Slc25a24	A	G	3: 109,066,751 (GRCm39)	T302A	probably damaging	Het
Slc25a41	A	T	17: 57,348,580 (GRCm39)	H4Q	probably benign	Het
Slc45a1	A	T	4: 150,723,071 (GRCm39)	V271D	possibly damaging	Het
Smad6	A	T	9: 63,927,573 (GRCm39)	L245Q	probably damaging	Het
Smad7	C	A	18: 75,527,317 (GRCm39)	Q388K	probably damaging	Het
Snx29	G	T	16: 11,532,799 (GRCm39)	D348Y	possibly damaging	Het
Son	A	T	16: 91,474,570 (GRCm39)	H2418L	unknown	Het
Sppl3	G	A	5: 115,233,922 (GRCm39)	V331M	probably damaging	Het
St13	T	G	15: 81,272,569 (GRCm39)	T92P	probably benign	Het
St3gal4	A	G	9: 34,963,643 (GRCm39)	W222R	probably damaging	Het
Stk32a	T	A	18: 43,444,999 (GRCm39)	N264K	probably benign	Het
Stoml3	T	A	3: 53,405,397 (GRCm39)	I26N	possibly damaging	Het
Taf7	T	C	18: 37,776,021 (GRCm39)	E182G	probably damaging	Het
Tas2r138	A	G	6: 40,590,129 (GRCm39)	V39A	probably damaging	Het
Tbc1d12	A	G	19: 38,889,823 (GRCm39)	S418G	possibly damaging	Het
Tbr1	T	A	2: 61,642,723 (GRCm39)	C663S	probably benign	Het
Tmc5	A	T	7: 118,222,501 (GRCm39)	Y67F	probably benign	Het
Tnfsf4	A	C	1: 161,244,814 (GRCm39)	I168L	probably benign	Het
Trav5-1	T	G	14: 52,860,347 (GRCm39)	S51A	probably benign	Het
Trmt10c	A	T	16: 55,854,646 (GRCm39)	C330S	possibly damaging	Het
Trpm1	T	C	7: 63,884,713 (GRCm39)	M798T	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Unc13d	CATGCC	CATGCCTCCGATGCC	11: 115,959,007 (GRCm39)		probably benign	Het
Vmn1r199	A	G	13: 22,566,822 (GRCm39)	T39A	possibly damaging	Het
Vmn1r74	T	A	7: 11,580,999 (GRCm39)	C100S	possibly damaging	Het
Vmn2r77	T	A	7: 86,452,302 (GRCm39)	I494K	possibly damaging	Het
Wdr17	G	A	8: 55,112,654 (GRCm39)	Q816*	probably null	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
R7316: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
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'- GATTTGTCGCCACCACACTC -3'
(R):5'- GTCTCTGCACTTGGCTGTAG -3'

Sequencing Primer
(F):5'- GAGCCATCTCTGGTCACTTG -3'
(R):5'- AGGCTGGCCTGTCAGAACTG -3'

Posted On

2022-03-25