Mutagenetix > Incidental Mutation

Incidental Mutation 'R1957:Emsy'

217912

Institutional Source

Beutler Lab

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

MMRRC Submission

039971-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R1957 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98297027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 52 (L52P)

Ref Sequence

ENSEMBL: ENSMUSP00000146150 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000038359
AA Change: L52P

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

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: L52P

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: L52P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205911
AA Change: L52P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206565

Predicted Effect

probably damaging
Transcript: ENSMUST00000206611
AA Change: L52P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206619
AA Change: L52P

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

Meta Mutation Damage Score

0.9354

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

97% (117/121)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	C	T	15: 102,247,068 (GRCm39)		probably benign	Het
Aadacl4fm5	G	A	4: 144,504,389 (GRCm39)	T254I	possibly damaging	Het
Abce1	A	G	8: 80,412,578 (GRCm39)	I583T	probably benign	Het
Abtb3	T	C	10: 85,469,563 (GRCm39)	L828P	probably damaging	Het
Adcy1	A	T	11: 7,111,945 (GRCm39)	T937S	probably benign	Het
Adgra2	A	G	8: 27,601,196 (GRCm39)	I279V	possibly damaging	Het
Adgrl4	A	T	3: 151,216,416 (GRCm39)	N533I	possibly damaging	Het
Adipor1	T	C	1: 134,350,771 (GRCm39)	S7P	probably benign	Het
Amelx	A	T	X: 167,965,153 (GRCm39)		probably null	Het
Anks1b	A	T	10: 89,885,792 (GRCm39)	T163S	probably damaging	Het
Apc	A	G	18: 34,450,388 (GRCm39)	E2394G	probably damaging	Het
Arhgef39	C	T	4: 43,499,309 (GRCm39)	G56E	probably damaging	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
Arsj	A	G	3: 126,232,670 (GRCm39)	N472S	probably benign	Het
Atg2b	T	C	12: 105,635,677 (GRCm39)	Y197C	probably damaging	Het
B3gat1	A	T	9: 26,667,248 (GRCm39)	D160V	possibly damaging	Het
Bmp7	T	C	2: 172,781,714 (GRCm39)	E50G	probably damaging	Het
Bms1	T	C	6: 118,369,939 (GRCm39)	E869G	probably damaging	Het
Brd4	G	A	17: 32,440,340 (GRCm39)	P332L	possibly damaging	Het
C130074G19Rik	T	C	1: 184,615,095 (GRCm39)	T32A	probably benign	Het
C1rl	A	T	6: 124,486,021 (GRCm39)	Y464F	probably damaging	Het
Ccdc150	T	A	1: 54,303,068 (GRCm39)	M193K	probably benign	Het
Ccdc7a	A	G	8: 129,706,616 (GRCm39)	S338P	probably damaging	Het
Cenpu	T	C	8: 47,025,872 (GRCm39)		probably benign	Het
Cep170	A	C	1: 176,597,013 (GRCm39)	V448G	probably benign	Het
Col27a1	G	T	4: 63,196,031 (GRCm39)	A879S	probably benign	Het
Crtac1	C	T	19: 42,276,383 (GRCm39)	S515N	possibly damaging	Het
Cstad	G	A	2: 30,498,293 (GRCm39)	V43M	unknown	Het
Daam1	T	C	12: 72,029,529 (GRCm39)		probably null	Het
Dnmt1	C	T	9: 20,838,442 (GRCm39)	R207H	probably benign	Het
Dsg3	A	G	18: 20,655,162 (GRCm39)	N153S	probably damaging	Het
Dzip3	C	A	16: 48,747,956 (GRCm39)	L1151F	probably damaging	Het
Eml5	A	T	12: 98,826,220 (GRCm39)	H644Q	probably damaging	Het
Eno1	T	A	4: 150,331,232 (GRCm39)		probably null	Het
Epha3	T	A	16: 63,593,315 (GRCm39)	T258S	probably benign	Het
Ern1	T	C	11: 106,317,723 (GRCm39)	T134A	probably damaging	Het
Fam151b	G	T	13: 92,614,410 (GRCm39)	T26K	probably damaging	Het
Fam151b	T	A	13: 92,614,411 (GRCm39)	T26S	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Fbn1	T	C	2: 125,209,574 (GRCm39)	N930S	possibly damaging	Het
Fgr	A	G	4: 132,725,673 (GRCm39)	M361V	probably benign	Het
Fmo4	G	A	1: 162,631,259 (GRCm39)	T236I	probably benign	Het
Fndc7	G	A	3: 108,790,825 (GRCm39)	T67I	probably damaging	Het
Fxr2	A	G	11: 69,534,766 (GRCm39)	T216A	probably benign	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm42669	A	T	5: 107,656,738 (GRCm39)	E355D	possibly damaging	Het
Gm5174	A	T	10: 86,492,617 (GRCm39)		noncoding transcript	Het
Gm5431	A	T	11: 48,779,224 (GRCm39)	L844*	probably null	Het
Gm6489	T	C	1: 31,326,452 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,678 (GRCm39)	V344A	probably damaging	Het
Gtpbp3	A	G	8: 71,943,099 (GRCm39)	E170G	probably damaging	Het
H2az1	A	C	3: 137,571,275 (GRCm39)		probably benign	Het
Heatr1	A	G	13: 12,411,419 (GRCm39)	N87D	probably damaging	Het
Iars2	T	C	1: 185,027,868 (GRCm39)	K687E	possibly damaging	Het
Ica1	T	C	6: 8,749,736 (GRCm39)	D71G	possibly damaging	Het
Ifnlr1	T	C	4: 135,413,881 (GRCm39)	L10P	probably damaging	Het
Il1r1	T	A	1: 40,352,300 (GRCm39)	L490*	probably null	Het
Ip6k3	A	T	17: 27,370,142 (GRCm39)	L92Q	probably benign	Het
Itgbl1	T	A	14: 124,204,090 (GRCm39)	F394I	probably damaging	Het
Kat6b	T	C	14: 21,678,947 (GRCm39)	Y437H	probably damaging	Het
Kcnh5	G	C	12: 74,944,358 (GRCm39)	Q964E	probably benign	Het
Krt27	A	T	11: 99,237,309 (GRCm39)		probably null	Het
Mki67	A	T	7: 135,300,128 (GRCm39)	D1635E	probably benign	Het
Mmp23	G	T	4: 155,736,509 (GRCm39)	H177Q	possibly damaging	Het
Myef2l	G	T	3: 10,154,346 (GRCm39)	V372F	probably benign	Het
Mylk2	C	A	2: 152,759,527 (GRCm39)	Q406K	possibly damaging	Het
Myo1g	A	G	11: 6,462,159 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,197,160 (GRCm39)	T261A	probably benign	Het
Nmt2	C	T	2: 3,326,419 (GRCm39)	P486L	possibly damaging	Het
Oard1	T	A	17: 48,722,304 (GRCm39)	L100*	probably null	Het
Oca2	T	C	7: 55,971,246 (GRCm39)	I391T	possibly damaging	Het
Or51v14	T	A	7: 103,260,618 (GRCm39)	*314L	probably null	Het
Or5k17	T	A	16: 58,746,530 (GRCm39)	M135L	probably benign	Het
Or5p64	A	C	7: 107,854,403 (GRCm39)	L314*	probably null	Het
Or6c68	A	T	10: 129,157,740 (GRCm39)	I83F	possibly damaging	Het
Or8b39	T	A	9: 37,996,419 (GRCm39)	C96S	probably damaging	Het
Or9k2b	C	A	10: 130,015,847 (GRCm39)	A301S	possibly damaging	Het
Pabpc4	T	A	4: 123,180,658 (GRCm39)	S127T	probably damaging	Het
Pcdhb1	A	G	18: 37,398,760 (GRCm39)	D237G	probably damaging	Het
Pdcd6ip	T	C	9: 113,537,090 (GRCm39)	Y29C	probably damaging	Het
Phf3	C	A	1: 30,870,601 (GRCm39)	R95L	probably damaging	Het
Pkd1l2	A	T	8: 117,757,421 (GRCm39)	V1539D	probably damaging	Het
Plxna1	A	T	6: 89,308,273 (GRCm39)	D1271E	probably damaging	Het
Ppp3r2	A	G	4: 49,681,726 (GRCm39)	F75L	probably damaging	Het
Pth2r	C	A	1: 65,411,514 (GRCm39)	D350E	probably damaging	Het
Rabgap1	T	C	2: 37,373,774 (GRCm39)	F262S	possibly damaging	Het
Rbbp6	T	C	7: 122,589,511 (GRCm39)	S438P	probably benign	Het
Rexo1	G	A	10: 80,379,200 (GRCm39)	R1038C	probably damaging	Het
Rnf10	A	G	5: 115,398,381 (GRCm39)		probably benign	Het
Scyl1	C	A	19: 5,810,132 (GRCm39)	A565S	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Sh3yl1	A	G	12: 30,992,787 (GRCm39)		probably null	Het
Slc1a7	G	T	4: 107,825,782 (GRCm39)	D14Y	probably benign	Het
Slc32a1	T	C	2: 158,455,963 (GRCm39)	V206A	probably damaging	Het
Smyd5	G	A	6: 85,415,121 (GRCm39)	R43Q	probably benign	Het
Snrnp200	G	A	2: 127,058,095 (GRCm39)	A286T	possibly damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Srebf2	T	A	15: 82,079,155 (GRCm39)	H794Q	probably benign	Het
Ssbp2	T	C	13: 91,812,303 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,455,207 (GRCm39)	G3023D	probably damaging	Het
St6galnac5	T	A	3: 152,552,120 (GRCm39)	Q149L	probably benign	Het
Stab2	A	G	10: 86,697,334 (GRCm39)	Y1985H	probably benign	Het
Suz12	A	G	11: 79,889,926 (GRCm39)	M146V	probably benign	Het
Tac2	A	G	10: 127,564,349 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,899 (GRCm39)	E323G	probably damaging	Het
Tnfrsf26	T	A	7: 143,171,660 (GRCm39)	T98S	probably damaging	Het
Trim15	T	C	17: 37,173,215 (GRCm39)		probably benign	Het
Trpt1	T	C	19: 6,975,561 (GRCm39)	V105A	possibly damaging	Het
Vcam1	T	C	3: 115,919,606 (GRCm39)	Y226C	probably damaging	Het
Vmn1r175	A	G	7: 23,507,808 (GRCm39)	V273A	probably benign	Het
Vmn2r109	A	G	17: 20,784,969 (GRCm39)	V17A	probably benign	Het
Vmn2r84	G	A	10: 130,226,677 (GRCm39)	A387V	probably benign	Het
Wdfy4	A	T	14: 32,693,641 (GRCm39)	L2728Q	probably damaging	Het
Zfp934	T	A	13: 62,666,108 (GRCm39)	T178S	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
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
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'- GCCTGAAACCCTTTGATTGGC -3'
(R):5'- TTATACCCTCGGCCTCCATGAG -3'

Sequencing Primer
(F):5'- GGCTTATACCACAGACTAAGTTTTCC -3'
(R):5'- CGGCCTCCATGAGACATTTTATAAC -3'

Posted On

2014-08-01