Mutagenetix > Incidental Mutation

Incidental Mutation 'R9563:Eme1'

721261

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 #

R9563 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94535798-94544611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94541339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 161 (D161G)

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: D161G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: D161G

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: 99.6%
20x: 98.9%

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: 127 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,645,009 (GRCm39)	D953E	probably damaging	Het
Acod1	A	C	14: 103,287,109 (GRCm39)	Y80S	probably damaging	Het
Actr5	A	G	2: 158,470,135 (GRCm39)	D255G	probably damaging	Het
Akna	A	G	4: 63,312,944 (GRCm39)	V393A	probably damaging	Het
Amotl1	T	C	9: 14,473,513 (GRCm39)	K562R	possibly damaging	Het
Amz1	T	A	5: 140,738,133 (GRCm39)	D464E	probably damaging	Het
Anapc1	G	A	2: 128,505,980 (GRCm39)	Q619*	probably null	Het
Arfgef3	C	T	10: 18,522,275 (GRCm39)	G584R	probably damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atr	G	C	9: 95,802,833 (GRCm39)	V1832L	probably damaging	Het
Bsn	T	C	9: 107,984,616 (GRCm39)	D374G		Het
Cap1	A	G	4: 122,758,505 (GRCm39)	V225A	probably benign	Het
Cc2d1a	A	G	8: 84,863,758 (GRCm39)	S562P	probably benign	Het
Ccdc30	T	C	4: 119,250,821 (GRCm39)	N141S	possibly damaging	Het
Cdc42bpb	A	G	12: 111,265,762 (GRCm39)	V1390A	possibly damaging	Het
Cdc42ep1	A	T	15: 78,733,782 (GRCm39)	H294L	probably benign	Het
Col6a6	C	A	9: 105,572,952 (GRCm39)	G2185C	probably benign	Het
Col7a1	T	C	9: 108,791,809 (GRCm39)	V1232A	unknown	Het
Copb1	A	G	7: 113,836,034 (GRCm39)	I449T	possibly damaging	Het
Cplane1	T	G	15: 8,216,563 (GRCm39)	L594V	probably benign	Het
Ctdsp2	A	G	10: 126,832,040 (GRCm39)	D216G	probably damaging	Het
Cttnbp2	T	A	6: 18,367,382 (GRCm39)	K1645N	probably benign	Het
Cttnbp2	A	T	6: 18,427,467 (GRCm39)	L738*	probably null	Het
Cul9	T	A	17: 46,820,897 (GRCm39)	T1927S	probably benign	Het
Cyfip2	A	G	11: 46,151,707 (GRCm39)	C531R	probably benign	Het
Cyp2j6	A	G	4: 96,414,245 (GRCm39)	I340T	probably damaging	Het
Daam1	A	G	12: 71,992,251 (GRCm39)	E322G	unknown	Het
Dab2ip	T	A	2: 35,609,915 (GRCm39)	L710*	probably null	Het
Degs1l	G	T	1: 180,882,810 (GRCm39)	V191F	possibly damaging	Het
Dph1	T	C	11: 75,076,825 (GRCm39)	T60A	possibly damaging	Het
Epha3	C	T	16: 63,366,510 (GRCm39)	G980D	possibly damaging	Het
Eri3	T	A	4: 117,422,013 (GRCm39)	V136E	probably benign	Het
Espl1	T	A	15: 102,228,233 (GRCm39)	I1669N	possibly damaging	Het
Exoc6	T	C	19: 37,588,071 (GRCm39)	I568T	probably damaging	Het
F3	T	A	3: 121,527,822 (GRCm39)	L85H		Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fbxw14	T	C	9: 109,106,335 (GRCm39)	Y234C	probably benign	Het
Fbxw25	T	A	9: 109,483,676 (GRCm39)	N179Y		Het
Foxr1	T	A	9: 44,352,199 (GRCm39)		probably benign	Het
Gas8	T	A	8: 124,263,179 (GRCm39)	V452E	possibly damaging	Het
Gdpd4	T	C	7: 97,649,369 (GRCm39)	V450A	probably damaging	Het
Greb1	T	C	12: 16,774,824 (GRCm39)	Y191C	probably benign	Het
H3c11	T	C	13: 21,967,221 (GRCm39)	D107G	probably damaging	Het
Haus3	G	A	5: 34,325,300 (GRCm39)	R120W	probably benign	Het
Herc1	G	T	9: 66,294,193 (GRCm39)		probably null	Het
Hyal2	T	C	9: 107,447,844 (GRCm39)	W166R	probably damaging	Het
Inka1	T	A	9: 107,861,488 (GRCm39)	Y276F	probably benign	Het
Itga7	C	T	10: 128,789,669 (GRCm39)	A1003V	probably damaging	Het
Itga8	T	A	2: 12,165,219 (GRCm39)	I797F	possibly damaging	Het
Kank2	T	C	9: 21,705,852 (GRCm39)	T389A	possibly damaging	Het
Kcnb2	T	A	1: 15,779,737 (GRCm39)	I203N	probably damaging	Het
Kif21b	T	A	1: 136,077,166 (GRCm39)	L396Q	probably damaging	Het
Kng1	T	G	16: 22,879,170 (GRCm39)	I78S	probably damaging	Het
Ldlrad4	T	C	18: 68,387,551 (GRCm39)	S288P	probably benign	Het
Lmntd2	A	G	7: 140,790,701 (GRCm39)	S516P		Het
Lrp1b	T	A	2: 41,185,711 (GRCm39)	I1449F		Het
Lrrk2	T	A	15: 91,634,043 (GRCm39)	I1380K	possibly damaging	Het
Lvrn	T	G	18: 47,017,506 (GRCm39)	I612S	probably damaging	Het
Lyst	T	C	13: 13,812,408 (GRCm39)	L940P	probably benign	Het
Man2a2	T	A	7: 80,006,101 (GRCm39)	M996L	probably benign	Het
Map3k3	T	A	11: 106,041,860 (GRCm39)	I413N	probably damaging	Het
Map4k5	A	G	12: 69,863,167 (GRCm39)	V629A	probably benign	Het
Mapre2	A	G	18: 24,023,981 (GRCm39)	E325G	unknown	Het
Mbnl1	A	G	3: 60,520,715 (GRCm39)	N101S	probably benign	Het
Meltf	T	A	16: 31,703,869 (GRCm39)	C199S	probably damaging	Het
Mmab	T	C	5: 114,574,850 (GRCm39)	E141G	probably benign	Het
Mtcl2	G	A	2: 156,902,182 (GRCm39)	R278C	probably damaging	Het
Mtus2	T	C	5: 148,250,217 (GRCm39)	L1317P		Het
Muc6	T	A	7: 141,217,783 (GRCm39)	T2297S	possibly damaging	Het
Myom2	A	T	8: 15,158,399 (GRCm39)	K784*	probably null	Het
Nek1	A	G	8: 61,577,157 (GRCm39)	E1118G	probably benign	Het
Nrtn	A	G	17: 57,058,416 (GRCm39)	V195A	probably damaging	Het
Nsd3	G	A	8: 26,204,230 (GRCm39)	V420I		Het
Or52e4	T	C	7: 104,706,281 (GRCm39)	L276P	possibly damaging	Het
Or52z13	A	T	7: 103,247,225 (GRCm39)	Q234L	probably benign	Het
Or5ac23	T	C	16: 59,149,765 (GRCm39)	I36V	probably benign	Het
Or5b99	T	A	19: 12,976,983 (GRCm39)	I211N	probably damaging	Het
Or5t9	A	G	2: 86,659,098 (GRCm39)	M1V	probably null	Het
Or6ae1	G	A	7: 139,742,233 (GRCm39)	T210I	probably damaging	Het
Or6c33	T	C	10: 129,853,287 (GRCm39)	I19T	probably benign	Het
Or8b56	A	T	9: 38,739,014 (GRCm39)	H3L	probably benign	Het
Pde10a	G	T	17: 9,020,710 (GRCm39)	A216S	unknown	Het
Phldb2	T	C	16: 45,645,247 (GRCm39)	T400A	possibly damaging	Het
Pkd1l1	T	A	11: 8,815,502 (GRCm39)	T1920S		Het
Ptgs2	T	A	1: 149,981,419 (GRCm39)	N567K	probably benign	Het
Pwp1	T	A	10: 85,712,370 (GRCm39)	D141E	probably damaging	Het
Rab3ip	T	C	10: 116,754,668 (GRCm39)	E296G	probably null	Het
Rb1cc1	A	G	1: 6,314,339 (GRCm39)	K337R	probably benign	Het
Rbp3	A	G	14: 33,677,477 (GRCm39)	D475G	probably damaging	Het
Ric3	T	C	7: 108,637,997 (GRCm39)	E253G	possibly damaging	Het
Rictor	A	T	15: 6,797,562 (GRCm39)	N306I	possibly damaging	Het
Rnf214	A	T	9: 45,811,141 (GRCm39)	V174E	possibly damaging	Het
Robo3	A	G	9: 37,340,900 (GRCm39)	F124S	probably damaging	Het
Rrad	A	G	8: 105,355,324 (GRCm39)	F228S	probably damaging	Het
Scn3a	A	T	2: 65,291,595 (GRCm39)	M1717K	probably damaging	Het
Scn3b	A	G	9: 40,193,729 (GRCm39)	D152G	probably benign	Het
Scn5a	C	A	9: 119,315,803 (GRCm39)	R1635L	probably damaging	Het
Sec61b	A	G	4: 47,483,049 (GRCm39)	Y93C	probably damaging	Het
Shprh	T	A	10: 11,042,235 (GRCm39)	Y739*	probably null	Het
Skor2	C	T	18: 76,946,376 (GRCm39)	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496 (GRCm39)	N508S	probably benign	Het
Slc7a12	A	G	3: 14,564,360 (GRCm39)	I349V	possibly damaging	Het
Slit1	T	C	19: 41,596,874 (GRCm39)	Y1075C	probably damaging	Het
Sltm	C	T	9: 70,480,841 (GRCm39)	A231V	unknown	Het
Smg1	A	G	7: 117,812,208 (GRCm39)	S52P	unknown	Het
Sorl1	A	G	9: 41,957,893 (GRCm39)	Y584H	probably damaging	Het
Spmip2	A	T	3: 79,356,616 (GRCm39)	M140L	probably benign	Het
Ssbp1	T	A	6: 40,454,968 (GRCm39)	S142R	probably benign	Het
Stard3	A	G	11: 98,270,797 (GRCm39)		probably null	Het
Strn3	G	T	12: 51,674,300 (GRCm39)	H531N	possibly damaging	Het
Stx17	A	G	4: 48,180,739 (GRCm39)	T195A	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmed5	A	C	5: 108,280,100 (GRCm39)		probably null	Het
Tmem132a	C	T	19: 10,838,960 (GRCm39)	R494H	probably benign	Het
Tom1	A	G	8: 75,787,177 (GRCm39)	K406E	probably benign	Het
Trav5d-4	A	T	14: 53,239,473 (GRCm39)	N43Y	probably damaging	Het
Trbv19	G	T	6: 41,155,945 (GRCm39)	K105N	possibly damaging	Het
Trim34a	C	T	7: 103,910,328 (GRCm39)	Q377*	probably null	Het
Trp53bp2	T	A	1: 182,276,378 (GRCm39)	N786K	probably benign	Het
Trpc3	A	G	3: 36,705,683 (GRCm39)	M504T	probably benign	Het
Ttc28	A	T	5: 111,371,092 (GRCm39)	M545L	probably benign	Het
Uggt1	A	C	1: 36,204,627 (GRCm39)	V996G	possibly damaging	Het
Vmn2r65	G	A	7: 84,589,880 (GRCm39)	Q679*	probably null	Het
Wdfy4	T	C	14: 32,692,833 (GRCm39)	I2958V		Het
Zbtb37	C	T	1: 160,847,840 (GRCm39)	S389N	possibly damaging	Het
Zfp235	T	C	7: 23,841,669 (GRCm39)	V696A	possibly damaging	Het
Zzef1	T	A	11: 72,765,732 (GRCm39)	C1420S	probably 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
R6889:Eme1	UTSW	11	94,541,303 (GRCm39)	missense	probably benign	0.00
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
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'- GCTTTTGACGAGCAAGCAGC -3'

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

Posted On

2022-08-09