Mutagenetix > Incidental Mutation

Incidental Mutation 'R7759:Eme1'

597745

Institutional Source

Beutler Lab

Gene Symbol

Eme1

Ensembl Gene

ENSMUSG00000039055

Gene Name

essential meiotic structure-specific endonuclease 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94644996-94653964 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 94645840 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 504 (Y504*)

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 null
Transcript: ENSMUST00000039949
AA Change: Y504*

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: Y504*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	T	16: 4,864,650	G215V	probably benign	Het
Adamts1	C	A	16: 85,797,795	G652C	probably damaging	Het
Adck1	G	A	12: 88,402,117	A122T	possibly damaging	Het
Akap1	A	C	11: 88,845,833	M34R	probably damaging	Het
Apc2	C	T	10: 80,311,196	R695C	probably damaging	Het
Apon	T	A	10: 128,254,515	W21R	probably benign	Het
Arhgef16	T	C	4: 154,286,975	T254A	probably benign	Het
Arid5b	T	A	10: 68,097,802	S757C	probably damaging	Het
B020004C17Rik	A	C	14: 57,016,785	I122L	possibly damaging	Het
Bckdhb	T	G	9: 84,010,326	V270G	probably damaging	Het
Cacna1d	A	G	14: 30,099,188	Y1146H	probably benign	Het
Carmil2	A	G	8: 105,697,036	D1214G	possibly damaging	Het
Ccdc142	T	C	6: 83,107,931	V636A	probably benign	Het
Chd9	T	C	8: 90,977,550		probably null	Het
Csmd3	A	G	15: 47,698,173	S1336P		Het
Cubn	A	G	2: 13,348,150	Y1926H	probably damaging	Het
Ddx58	C	A	4: 40,225,104	A298S	probably damaging	Het
Dock4	A	T	12: 40,817,736	D1437V	probably damaging	Het
Enah	G	A	1: 181,918,444	A687V	unknown	Het
Endou	A	C	15: 97,713,866	V339G	probably damaging	Het
Ephb6	G	A	6: 41,614,605	R232H	probably benign	Het
Ephx2	G	A	14: 66,089,519	A409V	possibly damaging	Het
Esd	T	A	14: 74,745,567	C219*	probably null	Het
Fscb	A	T	12: 64,474,092	M200K	probably benign	Het
Gabra6	A	T	11: 42,317,681	V108D	probably damaging	Het
Gm11555	A	G	11: 99,649,742	V137A	unknown	Het
Gpld1	A	G	13: 24,962,400	D209G	probably damaging	Het
Ikzf1	T	A	11: 11,769,256	I408N	probably damaging	Het
Itgb4	A	G	11: 116,003,710	R1364G	possibly damaging	Het
Kif26b	A	C	1: 178,678,944	K195T	probably damaging	Het
Mfsd12	T	C	10: 81,363,593	W440R	probably benign	Het
Mtrr	C	T	13: 68,570,027	E373K	probably damaging	Het
Mug2	T	A	6: 122,081,358	V1293E	probably damaging	Het
Myof	C	A	19: 37,939,898	A1068S	probably benign	Het
Ncam2	A	G	16: 81,615,784	D720G	probably damaging	Het
Nova2	G	T	7: 18,958,251	G435V		Het
Oacyl	T	A	18: 65,710,560	D109E	probably damaging	Het
Olfr1393	A	T	11: 49,280,636	M163L	probably benign	Het
Olfr684	G	A	7: 105,157,025	S219F	probably damaging	Het
Pdcd11	G	A	19: 47,113,198	V941M	possibly damaging	Het
Pdzd8	C	A	19: 59,299,926	R1014L	probably damaging	Het
Ppm1h	T	G	10: 122,904,113	D364E	probably benign	Het
Rp1	T	C	1: 4,344,884	N2002D	probably benign	Het
Sall1	C	T	8: 89,042,351		probably null	Het
Scn10a	C	T	9: 119,648,132	W728*	probably null	Het
Setdb2	G	T	14: 59,419,364	T168K	probably damaging	Het
Sgms1	T	C	19: 32,159,876	I97V	probably benign	Het
Slc8a3	A	T	12: 81,314,551	M498K	probably benign	Het
Smpd4	A	T	16: 17,638,633	E362D	probably damaging	Het
Ssc5d	A	T	7: 4,937,530	K881*	probably null	Het
Strn4	A	G	7: 16,830,384	E313G	probably damaging	Het
Tas2r113	A	T	6: 132,893,927	N306I	possibly damaging	Het
Tdrd6	G	T	17: 43,624,839	R1773S	probably benign	Het
Thbs2	T	C	17: 14,677,059	E729G	probably damaging	Het
Tnfrsf23	G	A	7: 143,670,835	T135I	probably damaging	Het
Tollip	A	G	7: 141,884,539	M218T	probably benign	Het
Tyk2	A	T	9: 21,120,258		probably null	Het
Ubr2	G	A	17: 46,986,048	R269C	probably damaging	Het
Uggt1	A	T	1: 36,146,725	M1459K	possibly damaging	Het
Upf1	A	G	8: 70,334,080	V929A	probably benign	Het
Usp48	T	C	4: 137,594,452	S24P	probably benign	Het
Vmn1r214	G	A	13: 23,034,461	E42K	not run	Het
Vmn1r83	G	T	7: 12,321,433	D232E	probably benign	Het
Vmn2r25	C	T	6: 123,823,380	V668I	probably damaging	Het
Vmn2r6	A	G	3: 64,556,570	I281T	probably damaging	Het
Ywhag	A	T	5: 135,911,189	Y184N	probably damaging	Het
Zdbf2	A	C	1: 63,308,376	E1971D	possibly damaging	Het
Zfp568	G	A	7: 30,023,414	A595T	possibly damaging	Het
Zfy2	T	C	Y: 2,117,083	D248G	probably benign	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
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
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'- GTGACCTCTTAACACCATGCC -3'
(R):5'- GAACTCAAGTCTCCAGTGGTGC -3'

Sequencing Primer
(F):5'- ATCGTACCACCCGTCCATG -3'
(R):5'- AAGTCTCCAGTGGTGCCCTTG -3'

Posted On

2019-11-26