Mutagenetix > Incidental Mutation

Incidental Mutation 'R9436:Eme1'

713293

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 #

R9436 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94535798-94544611 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 94538507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 393 (Q393*)

Ref Sequence

ENSEMBL: ENSMUSP00000036361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021239] [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 null
Transcript: ENSMUST00000039949
AA Change: Q393*

SMART Domains

Protein: ENSMUSP00000036361
Gene: ENSMUSG00000039055
AA Change: Q393*

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	A	G	19: 31,909,975 (GRCm39)	T340A	probably benign	Het
Adamts2	G	T	11: 50,694,507 (GRCm39)	R1098L	probably benign	Het
Add1	A	T	5: 34,763,273 (GRCm39)	R154*	probably null	Het
Alpk1	A	G	3: 127,478,924 (GRCm39)	V41A		Het
Anapc1	T	C	2: 128,518,045 (GRCm39)	T270A	probably benign	Het
Ankhd1	C	A	18: 36,694,041 (GRCm39)	A84D	probably benign	Het
Ankhd1	T	A	18: 36,774,654 (GRCm39)	C1412S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Chrm5	T	C	2: 112,309,824 (GRCm39)	R431G	possibly damaging	Het
Clxn	T	A	16: 14,735,541 (GRCm39)	C84*	probably null	Het
Dnah14	A	C	1: 181,508,348 (GRCm39)	E1842A	probably damaging	Het
Dync1h1	T	C	12: 110,582,975 (GRCm39)	L386P	probably damaging	Het
Hinfp	A	T	9: 44,209,276 (GRCm39)	Y308N	probably damaging	Het
Hnrnph3	T	A	10: 62,854,627 (GRCm39)	R55*	probably null	Het
Ifi44	T	C	3: 151,454,886 (GRCm39)	D113G	probably benign	Het
Katnal1	A	T	5: 148,815,761 (GRCm39)	L392H	probably damaging	Het
Kcnk12	C	A	17: 88,104,880 (GRCm39)	M1I	probably null	Het
Krt17	T	A	11: 100,148,325 (GRCm39)	D372V	probably damaging	Het
Mrtfb	T	A	16: 13,223,151 (GRCm39)	Y796*	probably null	Het
Myo3a	T	A	2: 22,412,235 (GRCm39)	Y751*	probably null	Het
Ndrg3	C	A	2: 156,782,276 (GRCm39)		probably null	Het
Nfkbib	C	A	7: 28,465,800 (GRCm39)	W16C	probably damaging	Het
Nlrp14	T	C	7: 106,781,106 (GRCm39)	V101A	probably benign	Het
Npy5r	A	G	8: 67,133,483 (GRCm39)	S437P	probably damaging	Het
Or6c75	T	C	10: 129,336,969 (GRCm39)	F64S	probably damaging	Het
Pcdhga3	G	A	18: 37,808,144 (GRCm39)	R199H	probably damaging	Het
Pi4ka	T	A	16: 17,125,670 (GRCm39)	H1155L		Het
Rbp3	A	G	14: 33,677,234 (GRCm39)	D394G	possibly damaging	Het
Rnmt	T	A	18: 68,442,410 (GRCm39)	V180E	probably damaging	Het
Rpl3l	A	T	17: 24,947,300 (GRCm39)	K5*	probably null	Het
Rps6ka1	A	T	4: 133,575,963 (GRCm39)	V652E	probably damaging	Het
Slc7a1	A	T	5: 148,270,730 (GRCm39)	W579R	probably damaging	Het
Smr2l	A	G	5: 88,430,257 (GRCm39)	D51G	possibly damaging	Het
Smyd4	T	A	11: 75,293,017 (GRCm39)	L649Q	probably damaging	Het
Snx19	A	G	9: 30,374,602 (GRCm39)	R954G	possibly damaging	Het
Sp4	T	C	12: 118,202,000 (GRCm39)	E744G	possibly damaging	Het
Spag16	C	T	1: 69,892,539 (GRCm39)	L107F	probably damaging	Het
Stk36	A	G	1: 74,650,272 (GRCm39)	D268G	probably benign	Het
Tat	G	T	8: 110,718,492 (GRCm39)	G85W	probably damaging	Het
Tchp	G	T	5: 114,847,446 (GRCm39)	E88D	probably benign	Het
Tmem132b	A	G	5: 125,775,633 (GRCm39)	N369S	possibly damaging	Het
Tmf1	T	C	6: 97,153,617 (GRCm39)	D152G	probably benign	Het
Ttc7	T	C	17: 87,600,320 (GRCm39)	Y145H	possibly damaging	Het
Ttn	T	C	2: 76,772,263 (GRCm39)	I2592M	unknown	Het
Unc80	T	G	1: 66,732,964 (GRCm39)		probably null	Het
Vmn2r26	T	C	6: 124,002,826 (GRCm39)	Y79H	probably damaging	Het
Whamm	G	T	7: 81,221,063 (GRCm39)		probably benign	Het
Zfp184	A	G	13: 22,133,898 (GRCm39)	I48M	probably benign	Het
Zfp974	A	T	7: 27,611,094 (GRCm39)	F210L	probably benign	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
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'- TTGGAAGTCATCTCGATGTTCCC -3'
(R):5'- AAGATGGTGTCCCTGACCAG -3'

Sequencing Primer
(F):5'- GAAGTCATCTCGATGTTCCCTGAAG -3'
(R):5'- TGTCCCTGACCAGCTGTG -3'

Posted On

2022-05-16