Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02402:Eme1'

291925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eme1

Ensembl Gene

ENSMUSG00000039055

Gene Name

essential meiotic structure-specific endonuclease 1

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02402

Quality Score

Status

Chromosome

Chromosomal Location

94644996-94653964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94650907 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 30 (P30S)

Ref Sequence

ENSEMBL: ENSMUSP00000036361 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000039949
AA Change: P30S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: P30S

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: ENSMUST00000125148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132813

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,559,424	F568L	probably benign	Het
Arntl2	T	C	6: 146,809,768	V90A	possibly damaging	Het
AW112010	T	A	19: 11,048,377		noncoding transcript	Het
Bbs4	A	T	9: 59,330,446	L205H	probably benign	Het
C2cd2l	T	C	9: 44,316,581	K121R	probably benign	Het
Car14	A	G	3: 95,899,558	V198A	possibly damaging	Het
Cd22	G	T	7: 30,877,530	H117Q	possibly damaging	Het
Celf1	T	A	2: 90,998,723	I45N	probably damaging	Het
Cluh	T	C	11: 74,657,171	S103P	probably damaging	Het
Cyp39a1	T	A	17: 43,691,722	L276Q	probably benign	Het
Ddx27	T	G	2: 167,015,325		probably benign	Het
Defb4	A	T	8: 19,201,263	I49F	possibly damaging	Het
Dock8	C	A	19: 25,078,145	T157K	probably benign	Het
Dpp6	T	C	5: 27,634,543	V352A	probably damaging	Het
Elmo2	C	T	2: 165,297,392	E412K	probably damaging	Het
Espnl	G	T	1: 91,344,813	A632S	probably benign	Het
Gfod1	C	A	13: 43,200,735	A255S	probably benign	Het
Helz2	T	A	2: 181,230,911	K2432M	probably damaging	Het
Idua	T	C	5: 108,679,791	L157P	probably damaging	Het
Ifi207	T	A	1: 173,727,593	D848V	probably damaging	Het
Jag1	C	T	2: 137,085,938	S851N	possibly damaging	Het
Kat6b	T	A	14: 21,631,347	F571I	probably damaging	Het
Lrrc74b	G	A	16: 17,558,164		probably benign	Het
Mst1r	A	G	9: 107,916,827	K1160E	probably damaging	Het
Muc19	C	A	15: 91,893,998		noncoding transcript	Het
Nrg4	G	A	9: 55,227,914		probably benign	Het
Ociad1	T	C	5: 73,300,694	I12T	possibly damaging	Het
Olfr98	A	G	17: 37,263,220	V148A	possibly damaging	Het
Pold3	A	G	7: 100,100,411		probably benign	Het
Psmd5	T	C	2: 34,857,772	E291G	probably damaging	Het
Ptpn23	A	G	9: 110,393,713	V92A	possibly damaging	Het
Rab44	T	A	17: 29,140,516	H559Q	probably benign	Het
Rbm6	T	C	9: 107,852,852	D199G	probably damaging	Het
Rps18-ps3	C	T	8: 107,263,122		noncoding transcript	Het
Sept10	T	C	10: 59,170,936	T93A	probably benign	Het
Slmap	T	C	14: 26,463,710	T111A	probably damaging	Het
Spata25	C	T	2: 164,828,457	M1I	probably null	Het
Spink5	T	A	18: 43,967,104	C63S	probably damaging	Het
Sycp3	T	C	10: 88,466,563		probably benign	Het
Tarbp1	A	G	8: 126,450,828		probably benign	Het
Thbs2	A	T	17: 14,671,454	N940K	probably benign	Het
Tmem106b	A	T	6: 13,081,601	Q169L	possibly damaging	Het
Trpm6	G	T	19: 18,786,756	C242F	probably benign	Het
Ush2a	T	A	1: 188,267,108	M205K	probably benign	Het
Utp18	A	C	11: 93,883,791		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
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
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
X0021:Eme1	UTSW	11	94650518	missense	possibly damaging	0.56
Z1176:Eme1	UTSW	11	94650696	missense	possibly damaging	0.46

Posted On

2015-04-16