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

044983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94535798-94544611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94541303 bp (GRCm39)

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: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	Het

Other mutations in Eme1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Eme1	APN	11	94,536,277 (GRCm39)	missense	probably damaging	1.00
IGL02402:Eme1	APN	11	94,541,733 (GRCm39)	missense	possibly damaging	0.65
R0220:Eme1	UTSW	11	94,541,084 (GRCm39)	missense	probably null	1.00
R0594:Eme1	UTSW	11	94,541,256 (GRCm39)	missense	possibly damaging	0.63
R0608:Eme1	UTSW	11	94,540,908 (GRCm39)	missense	probably damaging	1.00
R0842:Eme1	UTSW	11	94,541,700 (GRCm39)	missense	probably benign	0.24
R0925:Eme1	UTSW	11	94,541,558 (GRCm39)	missense	probably damaging	0.99
R1146:Eme1	UTSW	11	94,536,277 (GRCm39)	missense	probably damaging	1.00
R1146:Eme1	UTSW	11	94,536,277 (GRCm39)	missense	probably damaging	1.00
R1161:Eme1	UTSW	11	94,536,368 (GRCm39)	missense	probably damaging	1.00
R1310:Eme1	UTSW	11	94,536,368 (GRCm39)	missense	probably damaging	1.00
R1837:Eme1	UTSW	11	94,536,787 (GRCm39)	missense	probably benign	0.14
R2138:Eme1	UTSW	11	94,539,018 (GRCm39)	missense	probably damaging	1.00
R2420:Eme1	UTSW	11	94,536,640 (GRCm39)	critical splice donor site	probably null
R2427:Eme1	UTSW	11	94,541,801 (GRCm39)	unclassified	probably benign
R3807:Eme1	UTSW	11	94,541,418 (GRCm39)	missense	probably damaging	1.00
R4230:Eme1	UTSW	11	94,538,818 (GRCm39)	missense	possibly damaging	0.69
R7752:Eme1	UTSW	11	94,541,645 (GRCm39)	missense	probably damaging	1.00
R7759:Eme1	UTSW	11	94,536,666 (GRCm39)	nonsense	probably null
R7901:Eme1	UTSW	11	94,541,645 (GRCm39)	missense	probably damaging	1.00
R8785:Eme1	UTSW	11	94,541,447 (GRCm39)	missense	probably benign	0.18
R9083:Eme1	UTSW	11	94,540,958 (GRCm39)	missense	probably damaging	1.00
R9148:Eme1	UTSW	11	94,538,855 (GRCm39)	missense	possibly damaging	0.73
R9297:Eme1	UTSW	11	94,541,614 (GRCm39)	missense	probably benign	0.43
R9436:Eme1	UTSW	11	94,538,507 (GRCm39)	nonsense	probably null
R9563:Eme1	UTSW	11	94,541,339 (GRCm39)	missense	probably benign	0.19
X0021:Eme1	UTSW	11	94,541,344 (GRCm39)	missense	possibly damaging	0.56
Z1176:Eme1	UTSW	11	94,541,522 (GRCm39)	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