Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Eme1'

537126

Institutional Source

Beutler Lab

Gene Symbol

Eme1

Ensembl Gene

ENSMUSG00000039055

Gene Name

essential meiotic structure-specific endonuclease 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94644996-94653964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94650477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 173 (T173I)

Ref Sequence

ENSEMBL: ENSMUSP00000036361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025278] [ENSMUST00000039949]

AlphaFold

Q8BJW7

Predicted Effect

probably benign
Transcript: ENSMUST00000025278

SMART Domains

Protein: ENSMUSP00000025278
Gene: ENSMUSG00000024414

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
Pfam:Ribosomal_L27	31	114	2e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000039949
AA Change: T173I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: T173I

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: 99.9%
10x: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,943,053	D103E	probably benign	Het
Abcc3	A	T	11: 94,375,555	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 101,029,183	Y214C	possibly damaging	Het
Azi2	A	G	9: 118,049,895		probably null	Het
BC067074	C	A	13: 113,318,378	S319R	probably damaging	Het
Cacnb2	T	A	2: 14,986,015	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,374,562	T169P	probably damaging	Het
Cfap44	G	A	16: 44,404,132	V68I	probably benign	Het
Eea1	G	T	10: 96,037,478	C1134F	probably benign	Het
Ehmt2	T	G	17: 34,912,772	F1192V	probably damaging	Het
Emc1	T	C	4: 139,365,350	F531L	probably damaging	Het
Gli2	A	T	1: 118,844,416	C520S	probably damaging	Het
Gm43302	T	C	5: 105,280,138	K186E	probably benign	Het
Gpr108	A	T	17: 57,236,990	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,955,642	T135N	probably benign	Het
Hydin	G	A	8: 110,532,856	D2487N	possibly damaging	Het
Igfl3	G	T	7: 18,179,800	R25L	probably benign	Het
Igsf10	A	C	3: 59,331,933	S276A	probably benign	Het
Kctd1	A	G	18: 14,973,988	S211P	probably damaging	Het
Kctd7	A	T	5: 130,152,501	Q255L	probably benign	Het
Lrig1	A	G	6: 94,625,063	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Myh15	A	G	16: 49,153,111	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,944,109	F408S	probably benign	Het
Nrp1	T	C	8: 128,493,057	F652S	probably damaging	Het
Olfr1338	G	A	4: 118,754,307	T79I	probably damaging	Het
Olfr487	A	T	7: 108,211,918	F204I	probably benign	Het
Olfr574	A	T	7: 102,948,768	H91L	possibly damaging	Het
Olfr821	T	C	10: 130,034,532	M302T	probably benign	Het
Opa1	G	T	16: 29,620,868	R792L	probably benign	Het
Pcdha6	G	T	18: 36,968,343	L196F	probably damaging	Het
Pdia2	A	T	17: 26,196,970	Y347*	probably null	Het
Pdpr	G	T	8: 111,124,613		probably null	Het
Pigt	T	A	2: 164,507,331	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,737,981	D591A	possibly damaging	Het
Prrg2	G	A	7: 45,059,989	T97M	possibly damaging	Het
Qars	A	G	9: 108,513,183	T428A	probably damaging	Het
Rai1	T	C	11: 60,185,715	F202L	probably damaging	Het
Rars	A	T	11: 35,808,486	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc16a6	A	C	11: 109,455,040	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,954,153	T330A	probably damaging	Het
Smc1b	A	T	15: 85,067,759	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,251,470	A4S	possibly damaging	Het
Sv2b	A	C	7: 75,125,767		probably null	Het
Syt9	A	T	7: 107,425,286	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,773,353	E198G	probably damaging	Het
Ubr3	A	T	2: 69,944,300	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,797,871	C3286S	probably damaging	Het
Vill	A	G	9: 119,065,882	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,747,370	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,117,267	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,472,574	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,601,142	V197A	probably benign	Het
Wasf1	A	T	10: 40,920,369	I32F	probably damaging	Het
Wasf2	G	T	4: 133,194,730	A387S	unknown	Het
Wdr92	G	A	11: 17,222,309	V133M	probably damaging	Het
Zbtb14	G	A	17: 69,387,679	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671	A37S	probably damaging	Het
Zfp532	A	G	18: 65,686,990	E882G	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
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
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'- ACCACCACGATGTGCTTCAG -3'
(R):5'- CTTTTGACGAGCAAGCAGC -3'

Sequencing Primer
(F):5'- GCTTCAGGCATTCCTCTGG -3'
(R):5'- GCTGTGCCCTGAGCTCTCTAG -3'

Posted On

2018-10-18