Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Eme1'

165123

Institutional Source

Beutler Lab

Gene Symbol

Eme1

Ensembl Gene

ENSMUSG00000039055

Gene Name

essential meiotic structure-specific endonuclease 1

Synonyms

MMRRC Submission

039219-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1146 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

94644996-94653964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94645451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 564 (L564P)

Ref Sequence

ENSEMBL: ENSMUSP00000036361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000039949]

AlphaFold

Q8BJW7

Predicted Effect

probably benign
Transcript: ENSMUST00000021239

SMART Domains

Protein: ENSMUSP00000021239
Gene: ENSMUSG00000020869

Domain	Start	End	E-Value	Type
LRR	38	60	6.22e0	SMART
LRR	61	83	1.33e-1	SMART
LRR	84	106	3.75e0	SMART
LRR	107	131	1.09e2	SMART
coiled coil region	148	216	N/A	INTRINSIC
transmembrane domain	244	266	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000039949
AA Change: L564P

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

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: L564P

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	68	79	N/A	INTRINSIC
ERCC4	252	515	2.06e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128643

Meta Mutation Damage Score

0.8728

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,531,676	V1848E	probably damaging	Het
Alpk3	A	G	7: 81,077,595	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,740,008	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,364,971		probably benign	Het
Ctsj	G	A	13: 61,002,498	P230L	probably benign	Het
Dync1i2	C	T	2: 71,227,820		probably benign	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Frg1	A	G	8: 41,411,217		probably benign	Het
Fzd2	A	T	11: 102,605,380	S217C	possibly damaging	Het
Gaa	G	T	11: 119,274,904	R81L	probably damaging	Het
Gfral	A	G	9: 76,167,059	V368A	probably benign	Het
Gm10774	T	C	2: 126,709,472	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830	N545K	probably damaging	Het
Herc2	T	C	7: 56,146,696	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231	I53T	probably benign	Het
Iqub	G	A	6: 24,505,628	L94F	possibly damaging	Het
Kpna1	C	T	16: 36,033,379	R460*	probably null	Het
Masp1	T	C	16: 23,492,115	E189G	probably damaging	Het
Mogat1	A	G	1: 78,523,613	I105V	probably benign	Het
Mpi	A	G	9: 57,545,189		probably benign	Het
Msh2	C	A	17: 87,680,060	D209E	probably benign	Het
Nsf	G	A	11: 103,828,538	T646I	probably damaging	Het
Olfr1257	C	T	2: 89,881,206	P127S	probably damaging	Het
Olfr1416	G	A	1: 92,479,890	H244Y	probably damaging	Het
Olfr1449	T	A	19: 12,934,965	S76T	possibly damaging	Het
Olfr980	A	T	9: 40,006,094	V285D	possibly damaging	Het
Otogl	T	A	10: 107,886,513	I327F	probably damaging	Het
Pappa2	T	C	1: 158,854,982	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512		probably benign	Het
Pfkfb4	A	G	9: 109,007,726	E163G	probably benign	Het
Phc1	T	C	6: 122,323,457		probably benign	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Ppfia3	A	C	7: 45,352,215	D424E	probably benign	Het
Prss16	A	G	13: 22,006,968		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,201,730		probably null	Het
Rexo1	C	T	10: 80,544,405	S919N	probably benign	Het
Sec31a	T	C	5: 100,362,173	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,117,103	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,550,565	V539A	probably benign	Het
Sf3b5	A	G	10: 13,008,831	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tor1aip2	T	C	1: 156,064,737	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,922,907	E380G	probably damaging	Het
Usp16	C	T	16: 87,474,648	T364M	possibly damaging	Het
Wwox	T	C	8: 114,712,036	S281P	probably damaging	Het
Zfp110	A	G	7: 12,846,794		probably null	Het
Zfp335	G	A	2: 164,896,123	A856V	probably benign	Het
Zfp652	G	A	11: 95,749,782	E178K	possibly damaging	Het

Other mutations in Eme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Eme1	APN	11	94645451	missense	probably damaging	1.00
IGL02402:Eme1	APN	11	94650907	missense	possibly damaging	0.65
R0220:Eme1	UTSW	11	94650258	missense	probably null	1.00
R0594:Eme1	UTSW	11	94650430	missense	possibly damaging	0.63
R0608:Eme1	UTSW	11	94650082	missense	probably damaging	1.00
R0842:Eme1	UTSW	11	94650874	missense	probably benign	0.24
R0925:Eme1	UTSW	11	94650732	missense	probably damaging	0.99
R1146:Eme1	UTSW	11	94645451	missense	probably damaging	1.00
R1161:Eme1	UTSW	11	94645542	missense	probably damaging	1.00
R1310:Eme1	UTSW	11	94645542	missense	probably damaging	1.00
R1837:Eme1	UTSW	11	94645961	missense	probably benign	0.14
R2138:Eme1	UTSW	11	94648192	missense	probably damaging	1.00
R2420:Eme1	UTSW	11	94645814	critical splice donor site	probably null
R2427:Eme1	UTSW	11	94650975	unclassified	probably benign
R3807:Eme1	UTSW	11	94650592	missense	probably damaging	1.00
R4230:Eme1	UTSW	11	94647992	missense	possibly damaging	0.69
R6889:Eme1	UTSW	11	94650477	missense	probably benign	0.00
R7752:Eme1	UTSW	11	94650819	missense	probably damaging	1.00
R7759:Eme1	UTSW	11	94645840	nonsense	probably null
R7901:Eme1	UTSW	11	94650819	missense	probably damaging	1.00
R8785:Eme1	UTSW	11	94650621	missense	probably benign	0.18
R9083:Eme1	UTSW	11	94650132	missense	probably damaging	1.00
R9148:Eme1	UTSW	11	94648029	missense	possibly damaging	0.73
R9297:Eme1	UTSW	11	94650788	missense	probably benign	0.43
R9436:Eme1	UTSW	11	94647681	nonsense	probably null
R9563:Eme1	UTSW	11	94650513	missense	probably benign	0.19
X0021:Eme1	UTSW	11	94650518	missense	possibly damaging	0.56
Z1176:Eme1	UTSW	11	94650696	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- AGCTCCACAGCCATTGGTACAAAG -3'
(R):5'- TCAGCGGTGTTTCTCTGAGCAAG -3'

Sequencing Primer
(F):5'- AGGCAAGAGTTCACTCTGACTTC -3'
(R):5'- GTTTCTCTGAGCAAGAACGTC -3'

Posted On

2014-03-28