Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Eme1'

54424

Institutional Source

Beutler Lab

Gene Symbol

Eme1

Ensembl Gene

ENSMUSG00000039055

Gene Name

essential meiotic structure-specific endonuclease 1

Synonyms

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94644996-94653964 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94650082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 277 (C277R)

Ref Sequence

ENSEMBL: ENSMUSP00000036361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021239] [ENSMUST00000025278] [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 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 damaging
Transcript: ENSMUST00000039949
AA Change: C277R

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

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: C277R

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

1x: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ampd3	C	A	7: 110,795,790	D315E	probably damaging	Het
Ampd3	T	A	7: 110,795,791	F316I	probably damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,501,416		probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Bckdhb	T	G	9: 83,953,736	F98V	probably damaging	Het
Calhm1	C	T	19: 47,143,841	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,224,951	R90C	probably damaging	Het
Cdc40	A	T	10: 40,848,052	Y247N	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cep128	T	G	12: 90,999,535		probably benign	Het
Cep72	A	T	13: 74,038,304	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,218,715		probably benign	Het
Cysltr1	A	G	X: 106,578,655	V75A	possibly damaging	Het
Dnah17	G	T	11: 118,090,749	Y1716*	probably null	Het
Dnm1	T	C	2: 32,335,824	E383G	possibly damaging	Het
Dst	C	A	1: 34,290,356		probably null	Het
Edil3	T	C	13: 89,184,849	S375P	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,536,753	V341M	probably benign	Het
Fgf14	A	G	14: 124,676,603	S39P	probably damaging	Het
Fmo4	C	T	1: 162,803,651	R249H	possibly damaging	Het
Gle1	T	A	2: 29,940,228	D265E	probably benign	Het
Gml2	T	C	15: 74,821,386		probably null	Het
Golgb1	G	T	16: 36,916,330	E1980*	probably null	Het
Hap1	A	G	11: 100,349,305	L555P	probably damaging	Het
Heca	T	C	10: 17,915,291	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479	T101A	possibly damaging	Het
Ift88	T	C	14: 57,496,221	V707A	probably benign	Het
Kdm3a	C	T	6: 71,620,046	G252D	probably benign	Het
Klhl11	A	G	11: 100,472,242	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,786,074	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,486,243	N2131K	probably benign	Het
Lrrc6	T	A	15: 66,380,474	M448L	probably benign	Het
Magi3	C	G	3: 104,017,557	G1092A	probably damaging	Het
Mef2a	G	T	7: 67,235,148	S406*	probably null	Het
Mrps26	G	T	2: 130,563,858	R27L	possibly damaging	Het
Myof	T	C	19: 37,916,504	D1624G	probably damaging	Het
Naif1	T	C	2: 32,454,896	M204T	probably benign	Het
Ndufb8	T	C	19: 44,550,345	E179G	possibly damaging	Het
Neb	A	T	2: 52,326,757	D135E	probably benign	Het
Nlrp6	C	T	7: 140,923,486	Q502*	probably null	Het
Nploc4	A	G	11: 120,413,681	L238P	probably damaging	Het
Olfr463	G	A	11: 87,893,196	H243Y	probably damaging	Het
Parp4	T	A	14: 56,602,404	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,738,196	Y328*	probably null	Het
Pnpla8	C	T	12: 44,283,463	P48L	probably benign	Het
Rab44	T	A	17: 29,147,343		probably null	Het
Ranbp2	T	C	10: 58,493,898	I3031T	probably damaging	Het
Rnf219	T	C	14: 104,479,527	Y470C	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Serpinh1	A	G	7: 99,349,394	C10R	unknown	Het
Sh2d4a	A	G	8: 68,346,694	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spire1	T	C	18: 67,528,875	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,632,559	D49E	probably damaging	Het
Susd2	C	T	10: 75,638,235	A509T	probably benign	Het
Sycp2	A	G	2: 178,382,404	F396L	probably damaging	Het
Syne2	T	C	12: 75,963,813	L2499P	probably damaging	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Sytl4	A	T	X: 133,962,187	D16E	probably benign	Het
Tab2	C	T	10: 7,920,119	V126I	probably damaging	Het
Tecpr1	T	C	5: 144,211,499	T363A	probably damaging	Het
Terb2	A	G	2: 122,186,335	D16G	probably benign	Het
Tm2d2	A	G	8: 25,020,536	E137G	probably benign	Het
Trim30d	T	A	7: 104,472,485	H201L	probably damaging	Het
Tspan3	A	G	9: 56,147,385		probably null	Het
Ttn	A	T	2: 76,787,323	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,796,185		probably null	Het
Ubap2	T	A	4: 41,218,319	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,996,126	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,746,634	E615G	probably damaging	Het
Zfp655	T	A	5: 145,244,057	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,648,281	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,787,158		probably null	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
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
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'- TTGCAGAGTCCAGCAGTCAAGC -3'
(R):5'- CCAGAGGAATGCCTGAAGCACATC -3'

Sequencing Primer
(F):5'- ccctcctctctattcttcttctg -3'
(R):5'- CCTAGACTCCTCCATGACCAAT -3'

Posted On

2013-07-11