Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Emsy'

599737

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: 0.497) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98587137-98656783 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98621489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 436 (P436Q)

Ref Sequence

ENSEMBL: ENSMUSP00000145858 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

unknown
Transcript: ENSMUST00000038359
AA Change: P436Q

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: P436Q

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: P436Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000205911
AA Change: P397Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206619
AA Change: P422Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	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
R7794:Emsy	UTSW	7	98600724	missense	probably benign	0.30
R7832:Emsy	UTSW	7	98639853	missense	probably damaging	1.00
R7974:Emsy	UTSW	7	98630218	missense	possibly damaging	0.73
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'- AGGACTTCTTTGTAGACCTGTCTC -3'
(R):5'- TGAAACTTGTATGCACACCTCC -3'

Sequencing Primer
(F):5'- CTATATGTGCAGTATGACACACACGG -3'
(R):5'- TGTATGCACACCTCCATAGATAAAAG -3'

Posted On

2019-11-26