Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02063:Esf1'

283307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.935) question?

Stock #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

140119883-140170564 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 140164457 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 257 (D257Y)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046030]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046030
AA Change: D257Y

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: D257Y

Domain	Start	End	E-Value	Type
coiled coil region	91	114	N/A	INTRINSIC
low complexity region	192	207	N/A	INTRINSIC
low complexity region	230	258	N/A	INTRINSIC
coiled coil region	261	293	N/A	INTRINSIC
low complexity region	539	552	N/A	INTRINSIC
coiled coil region	628	652	N/A	INTRINSIC
low complexity region	667	692	N/A	INTRINSIC
low complexity region	730	740	N/A	INTRINSIC
Pfam:NUC153	753	781	4.1e-15	PFAM
low complexity region	784	798	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141086

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,648,322	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,016,023	R24G	probably damaging	Het
BC005624	A	G	2: 30,978,934	M76T	probably benign	Het
Blm	G	T	7: 80,509,419	S323*	probably null	Het
Card19	C	A	13: 49,203,131	G181*	probably null	Het
Cilp2	T	C	8: 69,882,865	I494M	probably damaging	Het
Col5a2	A	G	1: 45,403,419		probably null	Het
Col6a4	T	C	9: 106,057,418	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,702	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,926,348	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,418,202	I466T	probably damaging	Het
Dlg2	T	A	7: 91,810,476		probably benign	Het
Fgfr2	A	G	7: 130,167,755	F634S	probably damaging	Het
Flywch2	A	G	17: 23,777,107		probably benign	Het
Gbp10	A	T	5: 105,236,040	I32N	possibly damaging	Het
Gli3	A	G	13: 15,726,372	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,523,403		probably benign	Het
Gm5724	T	C	6: 141,738,889	D280G	probably benign	Het
Golga5	A	T	12: 102,472,159	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,324,009		probably benign	Het
Ino80b	A	T	6: 83,124,162	D141E	probably damaging	Het
Itpr3	A	G	17: 27,120,023	I2593V	probably benign	Het
Krt73	C	T	15: 101,795,769		probably benign	Het
Loxl4	G	T	19: 42,608,339	L78I	probably benign	Het
Mbd5	A	T	2: 49,274,767	N360I	probably damaging	Het
Nfat5	A	T	8: 107,361,818	M495L	probably benign	Het
Nrxn3	A	T	12: 88,795,795	E204V	possibly damaging	Het
Olfr1053	G	T	2: 86,314,793	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,739,912	C38*	probably null	Het
Pcdhb13	T	A	18: 37,444,229	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,401,757	M268K	probably benign	Het
Pdap1	A	T	5: 145,135,059		probably benign	Het
Phf2	A	T	13: 48,821,642	Y281N	unknown	Het
Phka2	T	A	X: 160,564,213	I664N	possibly damaging	Het
Plekha7	A	T	7: 116,140,701	D762E	possibly damaging	Het
Plekhg4	T	A	8: 105,379,252		probably benign	Het
Ppfia2	A	T	10: 106,904,845	Q1006L	probably null	Het
Pramef8	C	A	4: 143,417,851	Q256K	probably benign	Het
Prmt5	G	A	14: 54,511,020	Q197*	probably null	Het
Prodh	A	T	16: 18,079,185		probably null	Het
Rnft2	A	G	5: 118,242,522		probably benign	Het
Rp1l1	G	T	14: 64,029,536	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,461,510	Y1631H	probably damaging	Het
Slc22a5	A	T	11: 53,875,073	I229K	probably damaging	Het
Snd1	T	A	6: 28,526,221		probably benign	Het
Srrm1	G	T	4: 135,347,207		probably null	Het
Syne2	T	C	12: 76,052,100	V5252A	probably damaging	Het
Tek	A	G	4: 94,739,645	D2G	probably benign	Het
Uba1	T	C	X: 20,679,725	S803P	probably damaging	Het
Uggt2	A	G	14: 119,089,193	I202T	possibly damaging	Het
Umodl1	A	T	17: 30,987,914	I760F	probably benign	Het
Vgll1	A	G	X: 57,099,209		probably benign	Het
Zadh2	T	A	18: 84,095,265	Y355*	probably null	Het
Zfp236	A	G	18: 82,658,151	V347A	probably benign	Het
Zswim9	T	C	7: 13,260,681	E516G	probably damaging	Het

Other mutations in Esf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Esf1	APN	2	140167817	missense	probably benign	0.09
IGL01075:Esf1	APN	2	140120745	missense	probably benign	0.01
IGL01777:Esf1	APN	2	140157172	splice site	probably null
IGL01863:Esf1	APN	2	140120679	missense	probably benign	0.00
IGL01982:Esf1	APN	2	140164528	missense	probably benign	0.00
IGL02040:Esf1	APN	2	140129261	missense	possibly damaging	0.70
IGL03063:Esf1	APN	2	140154786	unclassified	probably benign
PIT4418001:Esf1	UTSW	2	140159777	missense	probably benign	0.18
R0255:Esf1	UTSW	2	140148923	unclassified	probably benign
R0388:Esf1	UTSW	2	140120871	missense	possibly damaging	0.71
R0564:Esf1	UTSW	2	140158586	missense	possibly damaging	0.86
R0655:Esf1	UTSW	2	140148879	missense	probably benign	0.25
R0831:Esf1	UTSW	2	140168359	missense	probably damaging	1.00
R1642:Esf1	UTSW	2	140158486	missense	possibly damaging	0.85
R1984:Esf1	UTSW	2	140148886	missense	possibly damaging	0.83
R3981:Esf1	UTSW	2	140158556	missense	probably benign	0.40
R4736:Esf1	UTSW	2	140124971	missense	probably damaging	0.98
R5083:Esf1	UTSW	2	140157071	missense	possibly damaging	0.93
R5083:Esf1	UTSW	2	140158579	missense	possibly damaging	0.96
R5222:Esf1	UTSW	2	140158583	missense	possibly damaging	0.86
R5347:Esf1	UTSW	2	140154881	nonsense	probably null
R5654:Esf1	UTSW	2	140164228	missense	possibly damaging	0.85
R6123:Esf1	UTSW	2	140168389	missense	probably benign	0.01
R6132:Esf1	UTSW	2	140159779	missense	probably benign	0.18
R6299:Esf1	UTSW	2	140123634	missense	possibly damaging	0.53
R6484:Esf1	UTSW	2	140158538	missense	probably benign	0.03
R6541:Esf1	UTSW	2	140167879	missense	probably benign	0.00
R6674:Esf1	UTSW	2	140120806	nonsense	probably null
R7203:Esf1	UTSW	2	140164219	missense	possibly damaging	0.53
R7309:Esf1	UTSW	2	140125091	intron	probably null
R7379:Esf1	UTSW	2	140154934	missense	probably benign	0.33
RF006:Esf1	UTSW	2	140164374	small deletion	probably benign

Posted On

2015-04-16