Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01357:Emsy'

75571

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: 0.577) question?

Stock #

IGL01357

Quality Score

Status

Chromosome

Chromosomal Location

98236344-98305990 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 98240077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1011 (Y1011*)

Ref Sequence

ENSEMBL: ENSMUSP00000146011 (fasta)

Gene Model

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

AlphaFold

Q8BMB0

Predicted Effect

probably null
Transcript: ENSMUST00000038359
AA Change: Y1059*

SMART Domains

Protein: ENSMUSP00000038216
Gene: ENSMUSG00000035401
AA Change: Y1059*

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 null
Transcript: ENSMUST00000205276
AA Change: Y1205*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205513

Predicted Effect

probably benign
Transcript: ENSMUST00000205886

Predicted Effect

probably null
Transcript: ENSMUST00000205911
AA Change: Y1011*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	C	A	8: 125,366,072 (GRCm39)	V224F	probably damaging	Het
Abca4	T	A	3: 121,897,232 (GRCm39)	M637K	probably damaging	Het
Abca8a	A	G	11: 109,922,398 (GRCm39)	V1395A	probably benign	Het
Adam20	A	C	8: 41,249,597 (GRCm39)	D569A	probably benign	Het
Axl	A	G	7: 25,473,594 (GRCm39)	L344P	probably benign	Het
B3gat1	T	C	9: 26,668,283 (GRCm39)	L291P	probably damaging	Het
Cdc25c	A	T	18: 34,867,910 (GRCm39)		probably null	Het
Crat	A	T	2: 30,297,736 (GRCm39)	Y263N	probably damaging	Het
Crb2	A	G	2: 37,685,523 (GRCm39)		probably benign	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah7a	A	T	1: 53,701,540 (GRCm39)	V205D	probably benign	Het
Fbln5	C	T	12: 101,717,146 (GRCm39)	S414N	probably damaging	Het
Fev	T	C	1: 74,921,683 (GRCm39)	E89G	possibly damaging	Het
Fgg	A	G	3: 82,921,535 (GRCm39)	E406G	possibly damaging	Het
Glra1	A	T	11: 55,405,715 (GRCm39)	M425K	possibly damaging	Het
Gm8214	C	T	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Kdm3b	A	G	18: 34,926,067 (GRCm39)	E69G	probably damaging	Het
Kntc1	T	A	5: 123,895,877 (GRCm39)	V89E	probably damaging	Het
L3mbtl3	T	A	10: 26,206,083 (GRCm39)	N361I	unknown	Het
Macrod2	A	G	2: 142,226,250 (GRCm39)	N457S	probably damaging	Het
Mal	C	A	2: 127,482,234 (GRCm39)	M56I	probably damaging	Het
Mfsd5	C	T	15: 102,189,882 (GRCm39)	T418M	probably benign	Het
Mmaa	C	A	8: 79,994,600 (GRCm39)	R402L	probably benign	Het
Myo15a	T	C	11: 60,393,115 (GRCm39)		probably benign	Het
Nme1	A	G	11: 93,850,317 (GRCm39)	S122P	possibly damaging	Het
Nxt1	A	G	2: 148,517,316 (GRCm39)	E19G	probably damaging	Het
Nynrin	A	T	14: 56,107,874 (GRCm39)	T994S	probably benign	Het
Orc2	T	G	1: 58,536,551 (GRCm39)	E56D	probably benign	Het
Orc2	T	C	1: 58,536,552 (GRCm39)	E56G	probably benign	Het
Pid1	G	A	1: 84,016,026 (GRCm39)	T113I	probably damaging	Het
Plcg2	G	A	8: 118,340,900 (GRCm39)		probably benign	Het
Rad50	A	G	11: 53,597,848 (GRCm39)	V12A	probably damaging	Het
Serpinb9c	C	T	13: 33,335,862 (GRCm39)	V197I	probably benign	Het
Sfxn2	A	T	19: 46,574,212 (GRCm39)	N134I	probably damaging	Het
Spen	T	C	4: 141,244,424 (GRCm39)	R204G	unknown	Het
Strip2	A	G	6: 29,939,166 (GRCm39)		probably benign	Het
Tas2r135	A	T	6: 42,383,078 (GRCm39)	I206L	probably benign	Het
Tmem243	A	G	5: 9,151,348 (GRCm39)	T11A	probably damaging	Het
Tmprss11c	A	G	5: 86,379,666 (GRCm39)	V401A	probably damaging	Het
Trim50	T	A	5: 135,392,808 (GRCm39)	I241N	probably damaging	Het
Ttn	A	C	2: 76,781,864 (GRCm39)	S1015A	possibly damaging	Het
Wee1	T	C	7: 109,741,242 (GRCm39)	S622P	probably benign	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
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