Mutagenetix > Incidental Mutation

Incidental Mutation 'R9618:Esf1'

724646

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

2610101J03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R9618 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

139961803-140012484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140001714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 378 (I378V)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

probably benign
Transcript: ENSMUST00000046030
AA Change: I378V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: I378V

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	C	T	3: 68,777,402 (GRCm39)	P121L	probably damaging	Het
2310002L09Rik	C	A	4: 73,868,934 (GRCm39)	M1I	probably null	Het
2510039O18Rik	T	A	4: 148,029,873 (GRCm39)	Y614*	probably null	Het
4930562C15Rik	A	T	16: 4,667,418 (GRCm39)	S270C	unknown	Het
Ak9	A	C	10: 41,203,627 (GRCm39)	T173P		Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chrd	T	G	16: 20,552,378 (GRCm39)	C82W	probably damaging	Het
Cln6	T	C	9: 62,758,111 (GRCm39)	V290A	probably damaging	Het
Cps1	A	G	1: 67,196,975 (GRCm39)	D342G	possibly damaging	Het
Cracd	A	G	5: 77,004,617 (GRCm39)	D326G	unknown	Het
Cryzl2	G	A	1: 157,289,578 (GRCm39)	R72H	probably benign	Het
Cyp2j6	A	T	4: 96,414,085 (GRCm39)	H393Q	probably benign	Het
Eefsec	T	C	6: 88,274,681 (GRCm39)	T428A	probably benign	Het
Ergic1	G	A	17: 26,827,619 (GRCm39)	G25S	probably damaging	Het
Fndc1	T	A	17: 7,990,313 (GRCm39)	T1128S	unknown	Het
Gabrp	A	T	11: 33,504,342 (GRCm39)	Y324*	probably null	Het
Hadha	G	A	5: 30,339,165 (GRCm39)	T270M	possibly damaging	Het
Hdac1-ps	T	C	17: 78,799,114 (GRCm39)	I35T	probably damaging	Het
Ino80d	G	A	1: 63,101,342 (GRCm39)	T428M	probably damaging	Het
Itgae	T	C	11: 73,011,171 (GRCm39)	F647S	possibly damaging	Het
Kank4	T	C	4: 98,653,732 (GRCm39)	R899G	possibly damaging	Het
Kcna4	T	A	2: 107,126,374 (GRCm39)	N369K	probably benign	Het
Kcnip3	G	T	2: 127,352,812 (GRCm39)	P69Q	probably benign	Het
Mcf2l	A	G	8: 13,034,320 (GRCm39)		probably benign	Het
Mtmr2	T	C	9: 13,707,315 (GRCm39)	V289A	probably benign	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Nxph1	T	G	6: 9,247,108 (GRCm39)	N26K	probably benign	Het
Obox1	A	G	7: 15,289,624 (GRCm39)	I138V	possibly damaging	Het
Or4c35	A	T	2: 89,808,343 (GRCm39)	T74S	probably benign	Het
Or4m1	A	T	14: 50,557,760 (GRCm39)	Y177*	probably null	Het
Or7e176	G	A	9: 20,171,639 (GRCm39)	V168M	possibly damaging	Het
P2ry14	T	A	3: 59,023,251 (GRCm39)	M70L	probably damaging	Het
Pcare	T	A	17: 72,057,817 (GRCm39)	Y620F	probably damaging	Het
Pcnt	A	G	10: 76,188,794 (GRCm39)	Y2869H	probably damaging	Het
Pkd1l1	T	C	11: 8,911,420 (GRCm39)	R286G		Het
Pygb	C	T	2: 150,657,008 (GRCm39)	R320W		Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Slc15a5	A	T	6: 138,032,779 (GRCm39)	S192T	possibly damaging	Het
Tex15	A	G	8: 34,062,397 (GRCm39)	H609R	probably benign	Het
Tmem256	T	A	11: 69,730,210 (GRCm39)	S73T	possibly damaging	Het
Tpr	G	T	1: 150,321,979 (GRCm39)	A2338S	possibly damaging	Het
Trub2	A	T	2: 29,673,346 (GRCm39)	M119K	probably benign	Het
Vmn1r228	T	C	17: 20,997,045 (GRCm39)	M158V	probably benign	Het
Vmn2r100	A	T	17: 19,742,583 (GRCm39)	H319L	probably damaging	Het
Vmn2r3	T	A	3: 64,178,724 (GRCm39)	I514F	probably damaging	Het
Wnt16	T	A	6: 22,297,891 (GRCm39)	Y252*	probably null	Het
Wnt16	G	T	6: 22,297,892 (GRCm39)	E253*	probably null	Het
Xkr4	A	T	1: 3,741,201 (GRCm39)	V124E	probably damaging	Het
Zc3h13	G	T	14: 75,567,542 (GRCm39)	R945L		Het
Zfp445	T	C	9: 122,685,788 (GRCm39)	N251D	probably damaging	Het
Zfp683	A	T	4: 133,782,965 (GRCm39)	D143V	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
R7309:Esf1	UTSW	2	139,967,011 (GRCm39)	splice site	probably null
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
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'- CAAGCTGTCCTAAGTGTAAGTGT -3'
(R):5'- GATAGTGCTCTGTTTTAGTCCCCA -3'

Sequencing Primer
(F):5'- GTGCAAACTTCAGTTCTTCTAACG -3'
(R):5'- AGTCCCCATCTTTCTCCTAAATTTC -3'

Posted On

2022-09-12