Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01314:Emsy'

73779

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Emsy

Ensembl Gene

ENSMUSG00000035401

Gene Name

EMSY, BRCA2-interacting transcriptional repressor

Synonyms

2210018M11Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

IGL01314

Quality Score

Status

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98242662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1159 (V1159A)

Ref Sequence

ENSEMBL: ENSMUSP00000145858 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

probably benign
Transcript: ENSMUST00000038359

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401

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 benign
Transcript: ENSMUST00000205276
AA Change: V1159A

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205513

Predicted Effect

probably benign
Transcript: ENSMUST00000205886

Predicted Effect

unknown
Transcript: ENSMUST00000205911
AA Change: V965A

Predicted Effect

probably benign
Transcript: ENSMUST00000206626

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206813

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	C	T	15: 11,071,939 (GRCm39)	A161V	probably benign	Het
Bptf	A	T	11: 106,945,679 (GRCm39)	V2520E	probably damaging	Het
C87436	T	C	6: 86,434,837 (GRCm39)	F395S	probably damaging	Het
Capn1	T	C	19: 6,040,014 (GRCm39)		probably benign	Het
Ceacam5	T	A	7: 17,481,181 (GRCm39)	Y309*	probably null	Het
Clasp2	A	G	9: 113,735,195 (GRCm39)	D1011G	possibly damaging	Het
Csmd3	A	G	15: 47,713,151 (GRCm39)	Y1608H	probably damaging	Het
Dcaf1	T	C	9: 106,711,390 (GRCm39)	I77T	probably benign	Het
Dcdc2a	T	C	13: 25,286,587 (GRCm39)	L170P	probably damaging	Het
Ddx28	A	G	8: 106,737,212 (GRCm39)	F282S	probably damaging	Het
Egf	A	G	3: 129,479,909 (GRCm39)	I497T	probably benign	Het
Hk3	C	A	13: 55,154,876 (GRCm39)		probably benign	Het
Htt	A	G	5: 35,036,200 (GRCm39)	D2049G	probably benign	Het
Inpp5d	C	A	1: 87,611,472 (GRCm39)	S45*	probably null	Het
Irf8	A	G	8: 121,480,119 (GRCm39)	Y119C	probably damaging	Het
Klk1b4	T	C	7: 43,860,600 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,380,513 (GRCm39)	S1273P	probably damaging	Het
Man2c1	A	T	9: 57,049,103 (GRCm39)	H867L	probably benign	Het
Mgat4e	T	C	1: 134,469,187 (GRCm39)	T286A	probably damaging	Het
Mug2	T	C	6: 122,058,238 (GRCm39)	F1267L	possibly damaging	Het
Necab1	T	A	4: 15,005,079 (GRCm39)	E128D	probably damaging	Het
Or10ak9	G	A	4: 118,726,328 (GRCm39)	V117I	probably benign	Het
Pds5a	A	G	5: 65,772,637 (GRCm39)	V1322A	probably benign	Het
Poc1b	C	T	10: 98,965,503 (GRCm39)	T144I	probably damaging	Het
Prcc	T	A	3: 87,777,387 (GRCm39)	N196Y	probably damaging	Het
Psma5	G	A	3: 108,187,111 (GRCm39)	V237M	possibly damaging	Het
Rap1gds1	A	G	3: 138,756,322 (GRCm39)	L11P	probably damaging	Het
Rapgef3	A	G	15: 97,646,104 (GRCm39)	F132S	probably damaging	Het
Rgs13	T	G	1: 144,047,179 (GRCm39)	D14A	probably benign	Het
Rlig1	A	C	10: 100,409,473 (GRCm39)	D313E	probably damaging	Het
Stxbp4	A	G	11: 90,512,475 (GRCm39)		probably benign	Het
Tcerg1	C	A	18: 42,706,374 (GRCm39)	A1017D	probably damaging	Het
Tent5c	T	C	3: 100,380,490 (GRCm39)	K89E	probably benign	Het
Tmem79	T	C	3: 88,239,883 (GRCm39)	I276V	possibly damaging	Het
Tmem94	C	A	11: 115,680,835 (GRCm39)	H113N	probably damaging	Het
Vil1	G	A	1: 74,467,397 (GRCm39)	D715N	probably damaging	Het
Vmn2r96	A	G	17: 18,803,226 (GRCm39)	T187A	probably benign	Het
Zfhx4	T	A	3: 5,478,154 (GRCm39)	S3590T	probably damaging	Het

Other mutations in Emsy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07