Mutagenetix > Incidental Mutation

Incidental Mutation 'R7832:Emsy'

605704

Institutional Source

Beutler Lab

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

MMRRC Submission

045886-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R7832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98289060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 79 (T79M)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205911] [ENSMUST00000206611] [ENSMUST00000206619]

AlphaFold

Q8BMB0

Predicted Effect

probably benign
Transcript: ENSMUST00000038359

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401

Domain	Start	End	E-Value	Type
ENT	16	88	2.44e-29	SMART
low complexity region	94	104	N/A	INTRINSIC
low complexity region	124	142	N/A	INTRINSIC
low complexity region	226	248	N/A	INTRINSIC
low complexity region	293	331	N/A	INTRINSIC
low complexity region	363	406	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	542	557	N/A	INTRINSIC
low complexity region	681	698	N/A	INTRINSIC
low complexity region	807	816	N/A	INTRINSIC
low complexity region	866	882	N/A	INTRINSIC
low complexity region	893	909	N/A	INTRINSIC
low complexity region	1197	1208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205276

Predicted Effect

probably benign
Transcript: ENSMUST00000205911

Predicted Effect

probably damaging
Transcript: ENSMUST00000206256
AA Change: T79M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000206611
AA Change: T151M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206619

Meta Mutation Damage Score

0.1782

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,038,654 (GRCm39)	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,562,671 (GRCm39)	V95M	probably damaging	Het
Ano7	A	G	1: 93,322,195 (GRCm39)	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,305,616 (GRCm39)	T176I	possibly damaging	Het
Armc2	A	C	10: 41,842,792 (GRCm39)	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400 (GRCm39)	Y33F	probably benign	Het
Banp	A	G	8: 122,747,291 (GRCm39)	S447G	probably benign	Het
Car8	T	A	4: 8,238,860 (GRCm39)	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,036,539 (GRCm39)	P124S	probably damaging	Het
Cdc23	A	T	18: 34,780,072 (GRCm39)	D85E	probably benign	Het
Cnot6l	T	C	5: 96,242,084 (GRCm39)	E213G	possibly damaging	Het
Cntnap4	A	G	8: 113,484,113 (GRCm39)	T389A	probably benign	Het
Cramp1	A	T	17: 25,202,196 (GRCm39)	C429S	probably damaging	Het
Crygn	T	C	5: 24,961,072 (GRCm39)	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,059,588 (GRCm39)	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196 (GRCm39)	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,541,179 (GRCm39)	V61M	probably benign	Het
Dnai1	A	G	4: 41,605,823 (GRCm39)	E271G	probably benign	Het
Efr3a	G	A	15: 65,701,679 (GRCm39)	V198I	probably benign	Het
Ergic1	A	G	17: 26,853,449 (GRCm39)	D145G	probably damaging	Het
Fah	A	G	7: 84,244,686 (GRCm39)	V229A	probably damaging	Het
Fam76a	G	A	4: 132,629,342 (GRCm39)	T270I	probably damaging	Het
Fat4	A	T	3: 39,055,353 (GRCm39)	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,418,999 (GRCm39)	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859 (GRCm39)	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Gabbr2	A	T	4: 46,734,096 (GRCm39)	S541T	probably benign	Het
Gm7489	A	G	15: 53,749,402 (GRCm39)	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056 (GRCm39)	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,482,848 (GRCm39)	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,409,525 (GRCm39)	T13S	probably benign	Het
Il23r	T	C	6: 67,400,846 (GRCm39)	T495A	probably benign	Het
Insyn2b	A	G	11: 34,353,034 (GRCm39)	T359A	probably benign	Het
Irf5	A	G	6: 29,535,461 (GRCm39)	T230A	probably benign	Het
Itga2b	A	T	11: 102,348,108 (GRCm39)	I831N	probably damaging	Het
Itgb4	A	G	11: 115,891,087 (GRCm39)	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,440,991 (GRCm39)	P605Q	probably benign	Het
Larp7	A	T	3: 127,337,916 (GRCm39)	M381K	possibly damaging	Het
Lfng	G	A	5: 140,598,588 (GRCm39)	G269D	probably benign	Het
Liph	T	C	16: 21,780,986 (GRCm39)	I335V	probably benign	Het
Map2k2	A	T	10: 80,954,040 (GRCm39)	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,964,044 (GRCm39)		probably null	Het
Nod2	A	G	8: 89,387,425 (GRCm39)		probably null	Het
Or51ag1	A	C	7: 103,155,586 (GRCm39)	L189R	probably damaging	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or9s23	T	C	1: 92,501,219 (GRCm39)	F109L	probably benign	Het
Pcdh20	G	T	14: 88,707,143 (GRCm39)	F52L	probably null	Het
Pkhd1	A	T	1: 20,573,223 (GRCm39)	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,334,536 (GRCm39)	D412V	possibly damaging	Het
Pole	T	G	5: 110,465,663 (GRCm39)	M1197R	probably benign	Het
Pom121l2	C	T	13: 22,168,048 (GRCm39)	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,995,472 (GRCm39)	M497K	probably benign	Het
Rbm45	G	T	2: 76,206,797 (GRCm39)	V270F	possibly damaging	Het
Ros1	A	T	10: 52,020,957 (GRCm39)	F673I	probably damaging	Het
Rtn4	T	A	11: 29,691,048 (GRCm39)	L1113*	probably null	Het
Scn4a	A	G	11: 106,212,841 (GRCm39)	I1388T	probably benign	Het
Sema3c	G	A	5: 17,899,845 (GRCm39)	V446I	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc35a5	T	A	16: 44,964,570 (GRCm39)	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,841,182 (GRCm39)	I76T	probably damaging	Het
Slfn4	A	G	11: 83,077,419 (GRCm39)	D69G	probably damaging	Het
Smc6	T	C	12: 11,367,844 (GRCm39)	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,398,224 (GRCm39)	S9G	probably benign	Het
Stx8	T	A	11: 68,000,106 (GRCm39)	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,147,596 (GRCm39)	C232S	probably benign	Het
Susd4	G	A	1: 182,686,070 (GRCm39)	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539 (GRCm39)	P3350S	probably benign	Het
Tbx20	A	T	9: 24,685,108 (GRCm39)	S12T	probably damaging	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Umodl1	A	T	17: 31,192,666 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,659,538 (GRCm39)	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 21,066,933 (GRCm39)	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,362,882 (GRCm39)	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,129,664 (GRCm39)	R852W	probably damaging	Het
Wdr41	A	T	13: 95,151,701 (GRCm39)	N287I	probably benign	Het
Zfp202	A	G	9: 40,121,758 (GRCm39)	D285G	possibly damaging	Het

Other mutations in Emsy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Emsy	APN	7	98,242,662 (GRCm39)	missense	probably benign	0.09
IGL01357:Emsy	APN	7	98,240,077 (GRCm39)	nonsense	probably null
IGL01620:Emsy	APN	7	98,275,831 (GRCm39)	missense	probably damaging	1.00
IGL01750:Emsy	APN	7	98,268,508 (GRCm39)	missense	probably damaging	0.99
IGL02032:Emsy	APN	7	98,239,987 (GRCm39)	missense	possibly damaging	0.94
IGL02388:Emsy	APN	7	98,290,873 (GRCm39)	missense	probably damaging	0.99
IGL03089:Emsy	APN	7	98,286,473 (GRCm39)	nonsense	probably null
IGL03272:Emsy	APN	7	98,242,969 (GRCm39)	missense	probably damaging	0.98
IGL03347:Emsy	APN	7	98,259,892 (GRCm39)	missense	probably damaging	0.99
IGL03400:Emsy	APN	7	98,251,933 (GRCm39)	missense	possibly damaging	0.94
IGL02980:Emsy	UTSW	7	98,268,587 (GRCm39)	missense	probably damaging	0.97
R0576:Emsy	UTSW	7	98,242,983 (GRCm39)	missense	probably damaging	0.99
R1102:Emsy	UTSW	7	98,251,796 (GRCm39)	missense	probably damaging	0.97
R1323:Emsy	UTSW	7	98,259,864 (GRCm39)	splice site	probably benign
R1438:Emsy	UTSW	7	98,270,613 (GRCm39)	missense	possibly damaging	0.88
R1439:Emsy	UTSW	7	98,250,048 (GRCm39)	intron	probably benign
R1452:Emsy	UTSW	7	98,249,881 (GRCm39)	missense	probably damaging	0.96
R1515:Emsy	UTSW	7	98,240,063 (GRCm39)	missense	probably damaging	1.00
R1535:Emsy	UTSW	7	98,242,944 (GRCm39)	missense	possibly damaging	0.94
R1791:Emsy	UTSW	7	98,297,087 (GRCm39)	missense	probably damaging	0.99
R1829:Emsy	UTSW	7	98,251,937 (GRCm39)	missense	possibly damaging	0.88
R1829:Emsy	UTSW	7	98,251,936 (GRCm39)	missense	possibly damaging	0.95
R1848:Emsy	UTSW	7	98,250,028 (GRCm39)	missense	probably damaging	0.99
R1861:Emsy	UTSW	7	98,290,822 (GRCm39)	missense	probably damaging	1.00
R1929:Emsy	UTSW	7	98,275,830 (GRCm39)	missense	probably damaging	0.99
R1957:Emsy	UTSW	7	98,297,027 (GRCm39)	missense	probably damaging	1.00
R2221:Emsy	UTSW	7	98,239,982 (GRCm39)	missense	possibly damaging	0.83
R2223:Emsy	UTSW	7	98,239,982 (GRCm39)	missense	possibly damaging	0.83
R2271:Emsy	UTSW	7	98,275,830 (GRCm39)	missense	probably damaging	0.99
R4078:Emsy	UTSW	7	98,239,932 (GRCm39)	missense	probably damaging	0.99
R4707:Emsy	UTSW	7	98,246,311 (GRCm39)	missense	possibly damaging	0.94
R4783:Emsy	UTSW	7	98,295,686 (GRCm39)	missense	possibly damaging	0.74
R5453:Emsy	UTSW	7	98,250,013 (GRCm39)	missense	probably damaging	0.97
R5518:Emsy	UTSW	7	98,242,818 (GRCm39)	missense	possibly damaging	0.86
R5828:Emsy	UTSW	7	98,242,699 (GRCm39)	missense	probably benign
R5945:Emsy	UTSW	7	98,268,590 (GRCm39)	missense	probably damaging	0.97
R6153:Emsy	UTSW	7	98,260,060 (GRCm39)	missense	probably damaging	1.00
R6824:Emsy	UTSW	7	98,242,614 (GRCm39)	missense	probably benign	0.27
R7068:Emsy	UTSW	7	98,259,968 (GRCm39)	missense	probably benign	0.17
R7381:Emsy	UTSW	7	98,240,010 (GRCm39)	missense	probably damaging	0.98
R7417:Emsy	UTSW	7	98,264,693 (GRCm39)	missense	probably damaging	1.00
R7488:Emsy	UTSW	7	98,264,762 (GRCm39)	missense	possibly damaging	0.94
R7499:Emsy	UTSW	7	98,279,538 (GRCm39)	missense	possibly damaging	0.59
R7646:Emsy	UTSW	7	98,268,560 (GRCm39)	missense	probably damaging	1.00
R7682:Emsy	UTSW	7	98,239,905 (GRCm39)	missense	probably damaging	0.99
R7716:Emsy	UTSW	7	98,248,973 (GRCm39)	missense	unknown
R7789:Emsy	UTSW	7	98,270,696 (GRCm39)	missense	probably damaging	1.00
R7794:Emsy	UTSW	7	98,249,931 (GRCm39)	missense	probably benign	0.30
R7974:Emsy	UTSW	7	98,279,425 (GRCm39)	missense	possibly damaging	0.73
R7996:Emsy	UTSW	7	98,242,888 (GRCm39)	missense	probably benign	0.00
R8070:Emsy	UTSW	7	98,275,922 (GRCm39)	missense	possibly damaging	0.73
R8221:Emsy	UTSW	7	98,297,111 (GRCm39)	missense	probably damaging	1.00
R8472:Emsy	UTSW	7	98,304,037 (GRCm39)	start gained	probably benign
R8841:Emsy	UTSW	7	98,264,768 (GRCm39)	missense	possibly damaging	0.95
R8998:Emsy	UTSW	7	98,268,512 (GRCm39)	missense	possibly damaging	0.63
R9063:Emsy	UTSW	7	98,295,684 (GRCm39)	missense	probably damaging	0.96
R9259:Emsy	UTSW	7	98,242,757 (GRCm39)	missense	probably benign
R9366:Emsy	UTSW	7	98,290,860 (GRCm39)	missense	probably benign	0.23
R9660:Emsy	UTSW	7	98,262,285 (GRCm39)	missense	possibly damaging	0.95
R9729:Emsy	UTSW	7	98,262,256 (GRCm39)	missense	probably benign	0.01
X0067:Emsy	UTSW	7	98,279,447 (GRCm39)	missense	possibly damaging	0.65
Z1088:Emsy	UTSW	7	98,249,929 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGGACTGCAGCATTTGGTC -3'
(R):5'- GCCTGTAAATACTTGGGAAAGACC -3'

Sequencing Primer
(F):5'- CAGCATTTGGTCAAGAGGGTCC -3'
(R):5'- TACTTGGGAAAGACCATTAAGTGATG -3'

Posted On

2019-12-20