Mutagenetix > Incidental Mutation

Incidental Mutation 'R2271:Emsy'

242475

Institutional Source

Beutler Lab

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

MMRRC Submission

040271-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R2271 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 98275830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 352 (K352N)

Ref Sequence

ENSEMBL: ENSMUSP00000146150 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038359
AA Change: K366N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: K366N

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

possibly damaging
Transcript: ENSMUST00000205276
AA Change: K366N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably damaging
Transcript: ENSMUST00000205911
AA Change: K327N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000206611

Predicted Effect

probably damaging
Transcript: ENSMUST00000206619
AA Change: K352N

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.0793

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,857,575 (GRCm39)	Q194L	probably damaging	Het
Acsf2	T	A	11: 94,449,699 (GRCm39)	K574*	probably null	Het
Adam22	T	C	5: 8,171,108 (GRCm39)	E614G	probably damaging	Het
Ap4e1	T	C	2: 126,889,083 (GRCm39)		probably null	Het
Arid3c	T	A	4: 41,724,744 (GRCm39)	I364F	probably damaging	Het
Bcan	T	A	3: 87,900,401 (GRCm39)	S611C	probably damaging	Het
Birc6	T	C	17: 74,909,966 (GRCm39)	V1453A	probably benign	Het
Carnmt1	T	C	19: 18,680,734 (GRCm39)	L336P	probably damaging	Het
Ccdc146	C	A	5: 21,604,719 (GRCm39)	D40Y	probably benign	Het
Ccdc83	C	T	7: 89,873,285 (GRCm39)	V357I	probably damaging	Het
Cdh22	A	T	2: 164,985,767 (GRCm39)		probably null	Het
Cdk5rap2	A	C	4: 70,184,915 (GRCm39)	S1178R	probably benign	Het
Cdkl3	T	C	11: 51,923,322 (GRCm39)	V45A	probably benign	Het
Chd7	A	G	4: 8,785,532 (GRCm39)	D612G	probably damaging	Het
Chst11	T	C	10: 83,027,004 (GRCm39)	Y144H	probably damaging	Het
Cops6	A	T	5: 138,159,403 (GRCm39)	N10I	probably benign	Het
Cyfip1	G	T	7: 55,549,705 (GRCm39)	R624L	probably null	Het
Cyp27a1	A	G	1: 74,775,846 (GRCm39)	N344D	probably damaging	Het
Des	T	G	1: 75,340,137 (GRCm39)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,238,165 (GRCm39)	D109V	probably damaging	Het
Disp3	C	T	4: 148,356,059 (GRCm39)	R267Q	possibly damaging	Het
Dnah3	T	A	7: 119,574,352 (GRCm39)	I2136F	probably benign	Het
Dnah9	T	C	11: 66,003,188 (GRCm39)	D872G	probably benign	Het
Dnajb14	G	A	3: 137,591,141 (GRCm39)	G31S	probably benign	Het
Dop1a	T	G	9: 86,376,471 (GRCm39)	V235G	probably damaging	Het
Efcab6	T	A	15: 83,831,200 (GRCm39)	R571S	probably benign	Het
Erbb4	T	C	1: 68,238,047 (GRCm39)	N814S	probably damaging	Het
Fgfbp1	T	A	5: 44,136,672 (GRCm39)	M207L	probably benign	Het
Filip1	T	C	9: 79,727,212 (GRCm39)	E469G	probably damaging	Het
Garem2	T	G	5: 30,321,972 (GRCm39)	L777R	probably damaging	Het
Garin5b	T	A	7: 4,761,186 (GRCm39)	T509S	probably benign	Het
Hkdc1	T	C	10: 62,253,677 (GRCm39)	T35A	probably benign	Het
Hps6	C	T	19: 45,994,121 (GRCm39)	A686V	possibly damaging	Het
Irs1	T	C	1: 82,266,180 (GRCm39)	S679G	probably benign	Het
Ism1	T	A	2: 139,599,293 (GRCm39)	I415N	probably damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Lipa	T	A	19: 34,488,290 (GRCm39)	R119*	probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mocs1	A	T	17: 49,756,137 (GRCm39)	K198M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msh5	A	G	17: 35,263,366 (GRCm39)	I154T	probably benign	Het
Muc6	T	A	7: 141,217,423 (GRCm39)	T2417S	possibly damaging	Het
Ncbp2	T	C	16: 31,775,769 (GRCm39)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,058,347 (GRCm39)	R359L	probably benign	Het
Neu3	G	C	7: 99,462,650 (GRCm39)	R358G	probably benign	Het
Ntrk3	A	C	7: 78,166,471 (GRCm39)		probably null	Het
Or1n1	G	A	2: 36,749,637 (GRCm39)	S241F	probably damaging	Het
Or8b12i	T	A	9: 20,082,705 (GRCm39)	H54L	possibly damaging	Het
Or8j3	A	G	2: 86,028,161 (GRCm39)	F312L	probably benign	Het
Pik3c2b	T	C	1: 133,031,166 (GRCm39)	S1491P	probably benign	Het
Plb1	G	T	5: 32,450,586 (GRCm39)	D376Y	probably damaging	Het
Plch1	T	A	3: 63,651,956 (GRCm39)	K378N	probably damaging	Het
Plekhm1	C	T	11: 103,277,948 (GRCm39)	E383K	probably benign	Het
Plxnb1	T	C	9: 108,931,776 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,472,681 (GRCm39)		probably null	Het
Prpf8	T	A	11: 75,386,189 (GRCm39)	V946E	probably damaging	Het
Psma5-ps	A	G	10: 85,149,595 (GRCm39)		noncoding transcript	Het
Ptprh	C	A	7: 4,606,132 (GRCm39)		probably benign	Het
Rngtt	T	A	4: 33,500,302 (GRCm39)	C565*	probably null	Het
Sacs	A	G	14: 61,442,109 (GRCm39)	H1385R	probably benign	Het
Sec24a	A	G	11: 51,607,277 (GRCm39)	S656P	possibly damaging	Het
Serpinb13	A	T	1: 106,926,756 (GRCm39)	I251L	possibly damaging	Het
Shc1	G	A	3: 89,330,849 (GRCm39)	G91S	probably damaging	Het
Sin3b	T	A	8: 73,460,047 (GRCm39)	N211K	probably benign	Het
Slc22a2	A	T	17: 12,805,692 (GRCm39)	M148L	probably benign	Het
Slc3a1	G	A	17: 85,371,220 (GRCm39)	V591I	probably benign	Het
Slc47a2	A	T	11: 61,219,352 (GRCm39)		probably null	Het
Spag17	C	T	3: 100,014,113 (GRCm39)	P2129S	probably damaging	Het
Specc1l	C	T	10: 75,081,438 (GRCm39)	S278F	probably damaging	Het
Sphkap	T	A	1: 83,234,942 (GRCm39)	D1628V	probably damaging	Het
Themis3	C	T	17: 66,862,699 (GRCm39)	V420I	possibly damaging	Het
Ttc39d	A	G	17: 80,524,675 (GRCm39)	K445E	probably damaging	Het
U2surp	T	C	9: 95,373,473 (GRCm39)	E232G	possibly damaging	Het
Usp25	T	A	16: 76,873,317 (GRCm39)	F458L	probably damaging	Het
Usp7	T	C	16: 8,516,333 (GRCm39)	S649G	probably benign	Het
Vmn1r10	A	G	6: 57,091,088 (GRCm39)	T227A	probably damaging	Het
Zcchc12	C	T	X: 35,462,118 (GRCm39)	T345M	possibly damaging	Het
Zfp444	T	C	7: 6,192,554 (GRCm39)	C191R	probably damaging	Het
Zfp729b	A	T	13: 67,740,352 (GRCm39)	C648S	probably damaging	Het
Zfp799	A	G	17: 33,040,777 (GRCm39)	Y58H	probably damaging	Het
Zfp938	C	T	10: 82,061,381 (GRCm39)	G413D	probably 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
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
R7832:Emsy	UTSW	7	98,289,060 (GRCm39)	missense	probably damaging	1.00
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'- GATACCCACAGAGCTCTCACTG -3'
(R):5'- GCAAGACTATAACGAGTAAGCACTG -3'

Sequencing Primer
(F):5'- ACAGAGCTCTCACTGTCCATTTAC -3'
(R):5'- GTTACGCTGATGGAATGGTTCAAATC -3'

Posted On

2014-10-16