Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01863:Esf1'

178411

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: 0.939) question?

Stock #

IGL01863

Quality Score

Status

Chromosome

Chromosomal Location

140119883-140170564 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140120679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 824 (M824K)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

probably benign
Transcript: ENSMUST00000046030
AA Change: M824K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: M824K

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	T	A	10: 42,339,911	I326F	possibly damaging	Het
Aimp1	T	C	3: 132,672,092	T171A	probably benign	Het
Armc4	T	C	18: 7,222,617	T551A	probably damaging	Het
Ash1l	T	A	3: 88,985,506	L1564*	probably null	Het
Atp1a1	G	T	3: 101,591,889	Y131*	probably null	Het
Celsr2	T	C	3: 108,394,022	E2686G	probably benign	Het
Cyp4f18	A	G	8: 71,989,926	V395A	possibly damaging	Het
Ephb2	T	C	4: 136,659,777	Q713R	probably benign	Het
Fam46c	C	T	3: 100,472,664	D259N	probably benign	Het
Fat4	T	C	3: 38,970,619		probably benign	Het
Gem	A	G	4: 11,705,980	I23V	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Il6st	A	G	13: 112,504,210	E779G	possibly damaging	Het
Lama3	T	A	18: 12,419,936		probably benign	Het
Lipi	A	C	16: 75,550,226	I435R	probably damaging	Het
Lrrc6	A	T	15: 66,396,974		probably benign	Het
Olfr291	T	C	7: 84,856,411	L14P	probably damaging	Het
Omg	C	T	11: 79,502,224	M269I	probably benign	Het
Optn	A	T	2: 5,021,487		probably benign	Het
Pex1	A	G	5: 3,606,066	T298A	probably benign	Het
Rab27b	T	A	18: 69,989,554	R111S	probably damaging	Het
Rhbdf1	T	G	11: 32,213,484	E329D	probably benign	Het
Slc2a13	T	C	15: 91,516,492	I176V	probably benign	Het
Slc30a1	T	A	1: 191,909,084	C281S	probably damaging	Het
Slc4a7	T	A	14: 14,762,430	C509S	probably damaging	Het
Slfn9	T	C	11: 82,981,325	R862G	probably benign	Het
Tbc1d2	A	G	4: 46,607,064	I782T	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vps33b	T	C	7: 80,274,311		probably null	Het
Wrap73	A	G	4: 154,145,333	I54V	probably benign	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
IGL01982:Esf1	APN	2	140164528	missense	probably benign	0.00
IGL02040:Esf1	APN	2	140129261	missense	possibly damaging	0.70
IGL02063:Esf1	APN	2	140164457	missense	possibly damaging	0.88
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	splice site	probably null
R7379:Esf1	UTSW	2	140154934	missense	probably benign	0.33
R8131:Esf1	UTSW	2	140148831	nonsense	probably null
R8270:Esf1	UTSW	2	140155113	unclassified	probably benign
R9066:Esf1	UTSW	2	140148773	missense	probably benign	0.02
R9186:Esf1	UTSW	2	140148872	missense	possibly damaging	0.96
RF006:Esf1	UTSW	2	140164374	small deletion	probably benign

Posted On

2014-05-07