Mutagenetix > Incidental Mutation

Incidental Mutation 'R7309:Esf1'

580599

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

2610101J03Rik

MMRRC Submission

045408-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139961803-140012484 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 139967011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

probably null
Transcript: ENSMUST00000046030

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

94% (47/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	C	5: 109,884,819 (GRCm39)	H346Q	probably damaging	Het
4932414N04Rik	A	T	2: 68,546,530 (GRCm39)	I71L	probably benign	Het
Anapc1	A	G	2: 128,516,604 (GRCm39)	S377P	probably damaging	Het
Cldnd2	A	G	7: 43,091,133 (GRCm39)	T22A	possibly damaging	Het
Comp	A	T	8: 70,826,328 (GRCm39)		probably null	Het
Cop1	A	G	1: 159,134,195 (GRCm39)	K446E	probably damaging	Het
Cox18	T	C	5: 90,362,917 (GRCm39)	T314A	possibly damaging	Het
Csrp3	A	G	7: 48,485,317 (GRCm39)	V60A	probably benign	Het
Dnah8	A	T	17: 31,093,988 (GRCm39)	Y4694F	probably damaging	Het
Dnm1l	A	G	16: 16,139,510 (GRCm39)	Y493H	probably damaging	Het
Fam187a	T	A	11: 102,776,832 (GRCm39)	V212E	probably damaging	Het
Fign	A	T	2: 63,810,301 (GRCm39)	M323K	possibly damaging	Het
Foxf2	A	G	13: 31,810,496 (GRCm39)	K145R	probably damaging	Het
Fxyd5	T	C	7: 30,734,829 (GRCm39)	N133D	probably benign	Het
Hnrnpdl	A	T	5: 100,185,482 (GRCm39)	L240*	probably null	Het
Kcna7	T	G	7: 45,058,679 (GRCm39)	F322C	probably damaging	Het
Kcnj9	A	G	1: 172,153,825 (GRCm39)	C100R	probably damaging	Het
Lrrc14b	C	A	13: 74,511,321 (GRCm39)	C253F	probably benign	Het
Map3k11	T	C	19: 5,740,486 (GRCm39)	V71A	probably damaging	Het
Med13	C	A	11: 86,181,888 (GRCm39)	M1315I	probably benign	Het
Mettl24	T	C	10: 40,686,496 (GRCm39)	V291A	probably benign	Het
Miox	G	T	15: 89,220,252 (GRCm39)	C148F	probably damaging	Het
Mpdz	A	T	4: 81,300,195 (GRCm39)		probably null	Het
Mthfsd	G	A	8: 121,835,070 (GRCm39)		probably benign	Het
Myh15	G	A	16: 48,916,828 (GRCm39)	A383T	probably benign	Het
Nlrc5	A	G	8: 95,200,670 (GRCm39)	H117R	probably benign	Het
Ntrk1	A	T	3: 87,702,384 (GRCm39)	M23K	probably benign	Het
Or14c45	T	A	7: 86,176,349 (GRCm39)	L128H	probably damaging	Het
Or4c3d	T	A	2: 89,881,801 (GRCm39)	N289I	probably damaging	Het
Or8g21	T	A	9: 38,906,576 (GRCm39)	S52C	probably damaging	Het
Pkd1l3	A	G	8: 110,374,893 (GRCm39)		probably null	Het
Plcz1	A	T	6: 139,968,882 (GRCm39)	D185E	probably damaging	Het
Plekhg5	C	A	4: 152,196,985 (GRCm39)	Q757K	possibly damaging	Het
Prr23a2	T	A	9: 98,739,027 (GRCm39)	D128E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sgsm1	A	T	5: 113,416,712 (GRCm39)		probably null	Het
Sh3bp5	C	T	14: 31,100,246 (GRCm39)	V221M	probably benign	Het
Slc25a27	A	T	17: 43,975,083 (GRCm39)	D59E	probably benign	Het
Slc35e1	G	C	8: 73,246,358 (GRCm39)	R25G	unknown	Het
Slc4a4	T	C	5: 89,318,610 (GRCm39)	V626A	probably benign	Het
Slfn5	T	C	11: 82,847,529 (GRCm39)	L138P	probably damaging	Het
Stat1	A	G	1: 52,165,780 (GRCm39)		probably null	Het
Tnks2	G	T	19: 36,829,936 (GRCm39)	A206S	probably damaging	Het
Trav7-1	C	A	14: 52,892,521 (GRCm39)	Q25K	probably benign	Het
Ttn	A	G	2: 76,728,670 (GRCm39)	M5470T	unknown	Het
Vps35	A	T	8: 86,001,596 (GRCm39)	D407E	probably benign	Het
Wdr90	T	C	17: 26,079,676 (GRCm39)	D190G	probably benign	Het
Wdr93	T	A	7: 79,423,103 (GRCm39)	F456I	possibly damaging	Het
Wdr95	A	G	5: 149,529,758 (GRCm39)	E675G	probably benign	Het

Other mutations in Esf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Esf1	APN	2	140,009,737 (GRCm39)	missense	probably benign	0.09
IGL01075:Esf1	APN	2	139,962,665 (GRCm39)	missense	probably benign	0.01
IGL01777:Esf1	APN	2	139,999,092 (GRCm39)	splice site	probably null
IGL01863:Esf1	APN	2	139,962,599 (GRCm39)	missense	probably benign	0.00
IGL01982:Esf1	APN	2	140,006,448 (GRCm39)	missense	probably benign	0.00
IGL02040:Esf1	APN	2	139,971,181 (GRCm39)	missense	possibly damaging	0.70
IGL02063:Esf1	APN	2	140,006,377 (GRCm39)	missense	possibly damaging	0.88
IGL03063:Esf1	APN	2	139,996,706 (GRCm39)	unclassified	probably benign
PIT4418001:Esf1	UTSW	2	140,001,697 (GRCm39)	missense	probably benign	0.18
R0255:Esf1	UTSW	2	139,990,843 (GRCm39)	unclassified	probably benign
R0388:Esf1	UTSW	2	139,962,791 (GRCm39)	missense	possibly damaging	0.71
R0564:Esf1	UTSW	2	140,000,506 (GRCm39)	missense	possibly damaging	0.86
R0655:Esf1	UTSW	2	139,990,799 (GRCm39)	missense	probably benign	0.25
R0831:Esf1	UTSW	2	140,010,279 (GRCm39)	missense	probably damaging	1.00
R1642:Esf1	UTSW	2	140,000,406 (GRCm39)	missense	possibly damaging	0.85
R1984:Esf1	UTSW	2	139,990,806 (GRCm39)	missense	possibly damaging	0.83
R3981:Esf1	UTSW	2	140,000,476 (GRCm39)	missense	probably benign	0.40
R4736:Esf1	UTSW	2	139,966,891 (GRCm39)	missense	probably damaging	0.98
R5083:Esf1	UTSW	2	139,998,991 (GRCm39)	missense	possibly damaging	0.93
R5083:Esf1	UTSW	2	140,000,499 (GRCm39)	missense	possibly damaging	0.96
R5222:Esf1	UTSW	2	140,000,503 (GRCm39)	missense	possibly damaging	0.86
R5347:Esf1	UTSW	2	139,996,801 (GRCm39)	nonsense	probably null
R5654:Esf1	UTSW	2	140,006,148 (GRCm39)	missense	possibly damaging	0.85
R6123:Esf1	UTSW	2	140,010,309 (GRCm39)	missense	probably benign	0.01
R6132:Esf1	UTSW	2	140,001,699 (GRCm39)	missense	probably benign	0.18
R6299:Esf1	UTSW	2	139,965,554 (GRCm39)	missense	possibly damaging	0.53
R6484:Esf1	UTSW	2	140,000,458 (GRCm39)	missense	probably benign	0.03
R6541:Esf1	UTSW	2	140,009,799 (GRCm39)	missense	probably benign	0.00
R6674:Esf1	UTSW	2	139,962,726 (GRCm39)	nonsense	probably null
R7203:Esf1	UTSW	2	140,006,139 (GRCm39)	missense	possibly damaging	0.53
R7379:Esf1	UTSW	2	139,996,854 (GRCm39)	missense	probably benign	0.33
R8131:Esf1	UTSW	2	139,990,751 (GRCm39)	nonsense	probably null
R8270:Esf1	UTSW	2	139,997,033 (GRCm39)	unclassified	probably benign
R9066:Esf1	UTSW	2	139,990,693 (GRCm39)	missense	probably benign	0.02
R9186:Esf1	UTSW	2	139,990,792 (GRCm39)	missense	possibly damaging	0.96
R9618:Esf1	UTSW	2	140,001,714 (GRCm39)	missense	probably benign	0.03
R9688:Esf1	UTSW	2	140,010,095 (GRCm39)	missense	probably damaging	0.97
RF006:Esf1	UTSW	2	140,006,294 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACACAACAATGACCATGGTGTC -3'
(R):5'- CCATGTTGTTCAGTACAGTTTAGTGAC -3'

Sequencing Primer
(F):5'- GTCTACCTTTTGTTTTTCCAGATCAG -3'
(R):5'- GAGATGGCCTCACTATGTGTCATAC -3'

Posted On

2019-10-10