Mutagenetix > Incidental Mutation

Incidental Mutation 'R5453:Emsy'

432628

Institutional Source

Beutler Lab

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

MMRRC Submission

043017-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.577) question?

Stock #

R5453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98250013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 758 (K758R)

Ref Sequence

ENSEMBL: ENSMUSP00000145858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038359] [ENSMUST00000205276] [ENSMUST00000205886] [ENSMUST00000205911] [ENSMUST00000206619] [ENSMUST00000206626]

AlphaFold

Q8BMB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038359
AA Change: K758R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: K758R

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 damaging
Transcript: ENSMUST00000205276
AA Change: K758R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205485

Predicted Effect

unknown
Transcript: ENSMUST00000205886
AA Change: K78R

Predicted Effect

probably benign
Transcript: ENSMUST00000205911

Predicted Effect

probably benign
Transcript: ENSMUST00000206619

Predicted Effect

probably benign
Transcript: ENSMUST00000206626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206813

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,210,622 (GRCm39)	Q186*	probably null	Het
Adamts20	T	C	15: 94,223,969 (GRCm39)	E1253G	possibly damaging	Het
Adgrd1	T	C	5: 129,256,647 (GRCm39)	F640S	probably damaging	Het
Anxa1	C	T	19: 20,357,703 (GRCm39)		probably null	Het
Babam2	A	G	5: 32,164,590 (GRCm39)	E288G	probably damaging	Het
Cd163	C	T	6: 124,289,500 (GRCm39)	A406V	probably damaging	Het
Cdh13	A	T	8: 119,925,706 (GRCm39)	D358V	probably damaging	Het
Cdk10	A	G	8: 123,953,131 (GRCm39)	I45V	probably benign	Het
Crybg2	A	T	4: 133,806,147 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,359,330 (GRCm39)	D3555G	probably damaging	Het
Dync1h1	A	G	12: 110,599,099 (GRCm39)	D1818G	probably benign	Het
Fat3	A	G	9: 15,908,160 (GRCm39)	V2614A	probably damaging	Het
Hivep2	T	C	10: 14,003,972 (GRCm39)	I190T	possibly damaging	Het
Hoxb3	T	C	11: 96,235,480 (GRCm39)	S136P	probably damaging	Het
Hras	A	C	7: 140,772,768 (GRCm39)	V29G	probably damaging	Het
Hycc1	A	G	5: 24,192,877 (GRCm39)		probably null	Het
Igll1	A	G	16: 16,681,558 (GRCm39)		probably null	Het
Insr	G	A	8: 3,205,694 (GRCm39)	T1365I	probably benign	Het
Kitl	T	A	10: 99,923,247 (GRCm39)	W187R	probably damaging	Het
Klb	T	A	5: 65,540,728 (GRCm39)	F940L	probably benign	Het
Lrp1b	C	T	2: 41,172,249 (GRCm39)	R725K	probably damaging	Het
Map4	C	T	9: 109,866,851 (GRCm39)		probably benign	Het
Mrps35	A	G	6: 146,972,115 (GRCm39)	S253G	probably benign	Het
Mycbp2	C	T	14: 103,438,837 (GRCm39)	E2015K	probably damaging	Het
Nyap2	A	C	1: 81,169,857 (GRCm39)	I205L	probably benign	Het
Or12d13	T	C	17: 37,647,953 (GRCm39)	M57V	possibly damaging	Het
Or6k14	A	G	1: 173,927,033 (GRCm39)	K3R	probably benign	Het
Rab11fip3	C	T	17: 26,211,555 (GRCm39)		probably null	Het
Rbm47	A	G	5: 66,184,525 (GRCm39)	V26A	probably benign	Het
Ripk2	A	T	4: 16,151,989 (GRCm39)	I190N	probably damaging	Het
Spmip4	A	G	6: 50,572,776 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttc17	A	T	2: 94,133,905 (GRCm39)	N1150K	probably damaging	Het
Zfp108	G	T	7: 23,960,689 (GRCm39)	G427W	probably damaging	Het
Zfp84	A	G	7: 29,475,722 (GRCm39)	E138G	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
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'- GTCCGCAAAGGTAGCACTAC -3'
(R):5'- GCATATGAATTATTGTAGGCTGCTG -3'

Sequencing Primer
(F):5'- GCAATGGATGGACTCTCA -3'
(R):5'- GCTGTTACATAGGCTGTAGTCTATAC -3'

Posted On

2016-10-06