Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Emsy'

650777

Institutional Source

Beutler Lab

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.418) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98587137-98656783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98630218 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 305 (S305P)

Ref Sequence

ENSEMBL: ENSMUSP00000145858 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

unknown
Transcript: ENSMUST00000038359
AA Change: S305P

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: S305P

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: S305P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205911
AA Change: S266P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000206611

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206619
AA Change: S291P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,937,820	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,911,619	V147I	probably benign	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,344	H465R	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	Het

Other mutations in Emsy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:Emsy	APN	7	98593455	missense	probably benign	0.09
IGL01357:Emsy	APN	7	98590870	nonsense	probably null
IGL01620:Emsy	APN	7	98626624	missense	probably damaging	1.00
IGL01750:Emsy	APN	7	98619301	missense	probably damaging	0.99
IGL02032:Emsy	APN	7	98590780	missense	possibly damaging	0.94
IGL02388:Emsy	APN	7	98641666	missense	probably damaging	0.99
IGL03089:Emsy	APN	7	98637266	nonsense	probably null
IGL03272:Emsy	APN	7	98593762	missense	probably damaging	0.98
IGL03347:Emsy	APN	7	98610685	missense	probably damaging	0.99
IGL03400:Emsy	APN	7	98602726	missense	possibly damaging	0.94
IGL02980:Emsy	UTSW	7	98619380	missense	probably damaging	0.97
R0576:Emsy	UTSW	7	98593776	missense	probably damaging	0.99
R1102:Emsy	UTSW	7	98602589	missense	probably damaging	0.97
R1323:Emsy	UTSW	7	98610657	splice site	probably benign
R1438:Emsy	UTSW	7	98621406	missense	possibly damaging	0.88
R1439:Emsy	UTSW	7	98600841	intron	probably benign
R1452:Emsy	UTSW	7	98600674	missense	probably damaging	0.96
R1515:Emsy	UTSW	7	98590856	missense	probably damaging	1.00
R1535:Emsy	UTSW	7	98593737	missense	possibly damaging	0.94
R1791:Emsy	UTSW	7	98647880	missense	probably damaging	0.99
R1829:Emsy	UTSW	7	98602729	missense	possibly damaging	0.95
R1829:Emsy	UTSW	7	98602730	missense	possibly damaging	0.88
R1848:Emsy	UTSW	7	98600821	missense	probably damaging	0.99
R1861:Emsy	UTSW	7	98641615	missense	probably damaging	1.00
R1929:Emsy	UTSW	7	98626623	missense	probably damaging	0.99
R1957:Emsy	UTSW	7	98647820	missense	probably damaging	1.00
R2221:Emsy	UTSW	7	98590775	missense	possibly damaging	0.83
R2223:Emsy	UTSW	7	98590775	missense	possibly damaging	0.83
R2271:Emsy	UTSW	7	98626623	missense	probably damaging	0.99
R4078:Emsy	UTSW	7	98590725	missense	probably damaging	0.99
R4707:Emsy	UTSW	7	98597104	missense	possibly damaging	0.94
R4783:Emsy	UTSW	7	98646479	missense	possibly damaging	0.74
R5453:Emsy	UTSW	7	98600806	missense	probably damaging	0.97
R5518:Emsy	UTSW	7	98593611	missense	possibly damaging	0.86
R5828:Emsy	UTSW	7	98593492	missense	probably benign
R5945:Emsy	UTSW	7	98619383	missense	probably damaging	0.97
R6153:Emsy	UTSW	7	98610853	missense	probably damaging	1.00
R6824:Emsy	UTSW	7	98593407	missense	probably benign	0.27
R7068:Emsy	UTSW	7	98610761	missense	probably benign	0.17
R7381:Emsy	UTSW	7	98590803	missense	probably damaging	0.98
R7417:Emsy	UTSW	7	98615486	missense	probably damaging	1.00
R7488:Emsy	UTSW	7	98615555	missense	possibly damaging	0.94
R7499:Emsy	UTSW	7	98630331	missense	possibly damaging	0.59
R7646:Emsy	UTSW	7	98619353	missense	probably damaging	1.00
R7682:Emsy	UTSW	7	98590698	missense	probably damaging	0.99
R7716:Emsy	UTSW	7	98599766	missense	unknown
R7789:Emsy	UTSW	7	98621489	missense	probably damaging	1.00
R7794:Emsy	UTSW	7	98600724	missense	probably benign	0.30
R7832:Emsy	UTSW	7	98639853	missense	probably damaging	1.00
R7996:Emsy	UTSW	7	98593681	missense	probably benign	0.00
R8070:Emsy	UTSW	7	98626715	missense	possibly damaging	0.73
R8221:Emsy	UTSW	7	98647904	missense	probably damaging	1.00
R8472:Emsy	UTSW	7	98654830	start gained	probably benign
R8841:Emsy	UTSW	7	98615561	missense	possibly damaging	0.95
R8998:Emsy	UTSW	7	98619305	missense	possibly damaging	0.63
R9063:Emsy	UTSW	7	98646477	missense	probably damaging	0.96
R9259:Emsy	UTSW	7	98593550	missense	probably benign
R9366:Emsy	UTSW	7	98641653	missense	probably benign	0.23
R9660:Emsy	UTSW	7	98613078	missense	possibly damaging	0.95
R9729:Emsy	UTSW	7	98613049	missense	probably benign	0.01
X0067:Emsy	UTSW	7	98630240	missense	possibly damaging	0.65
Z1088:Emsy	UTSW	7	98600722	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGACCTAACAGCAGAGATCCTC -3'
(R):5'- ACCAAGTTCAACCTTTGTGCC -3'

Sequencing Primer
(F):5'- GAGATCCTCAACCCCAAGATAGG -3'
(R):5'- AGTTCAACCTTTGTGCCCAACATTC -3'

Posted On

2020-09-15