Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Esf1'

31392

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140119883-140170564 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140120871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 760 (Y760F)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046030
AA Change: Y760F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: Y760F

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

0.0650

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,295,159 (GRCm38)		probably benign	Het
Acsbg1	T	C	9: 54,609,063 (GRCm38)	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,450,658 (GRCm38)	I410T	probably benign	Het
Afap1l2	A	C	19: 56,917,242 (GRCm38)		probably benign	Het
Aox2	T	C	1: 58,354,406 (GRCm38)	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,414,673 (GRCm38)		noncoding transcript	Het
Camta1	C	A	4: 151,075,140 (GRCm38)	R1614L	probably damaging	Het
Cdh3	C	A	8: 106,539,129 (GRCm38)	T268K	probably damaging	Het
Chd5	T	A	4: 152,371,644 (GRCm38)	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560 (GRCm38)	V1967A	probably benign	Het
Cntn3	T	C	6: 102,277,316 (GRCm38)	M222V	probably damaging	Het
Dcaf17	A	G	2: 71,078,571 (GRCm38)	K277R	probably benign	Het
Dmbt1	T	C	7: 131,096,049 (GRCm38)		probably benign	Het
Dmpk	T	A	7: 19,084,077 (GRCm38)		probably benign	Het
Dzank1	A	T	2: 144,476,106 (GRCm38)	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,109,401 (GRCm38)	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,427,351 (GRCm38)	R471P	possibly damaging	Het
Fanci	C	A	7: 79,439,630 (GRCm38)	T938K	probably benign	Het
Gnai3	A	G	3: 108,115,757 (GRCm38)		probably benign	Het
Hspg2	T	A	4: 137,511,158 (GRCm38)	C319S	probably damaging	Het
Il12a	T	A	3: 68,695,187 (GRCm38)		probably null	Het
Inpp4a	A	G	1: 37,396,160 (GRCm38)	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,317,863 (GRCm38)	E13V	probably damaging	Het
Kcnq3	T	A	15: 66,000,038 (GRCm38)	Y594F	probably benign	Het
Kif16b	T	C	2: 142,740,937 (GRCm38)	E556G	probably damaging	Het
Kif28	T	C	1: 179,740,089 (GRCm38)	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,554,549 (GRCm38)	E143G	probably damaging	Het
Mast1	T	G	8: 84,915,537 (GRCm38)	I1063L	probably benign	Het
Med12l	T	C	3: 59,093,504 (GRCm38)		probably benign	Het
Mmp19	G	T	10: 128,798,883 (GRCm38)	R456L	probably benign	Het
Mon1b	T	A	8: 113,639,078 (GRCm38)	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,940,999 (GRCm38)	I96L	probably benign	Het
Mrgpra9	A	T	7: 47,252,794 (GRCm38)	M1K	probably null	Het
Mycbp2	A	T	14: 103,156,667 (GRCm38)	H2819Q	probably benign	Het
Nav1	A	C	1: 135,448,917 (GRCm38)		probably benign	Het
Neurl4	T	C	11: 69,911,733 (GRCm38)		probably benign	Het
Ntng2	G	C	2: 29,207,426 (GRCm38)	P341R	probably damaging	Het
Oas1d	A	T	5: 120,917,028 (GRCm38)	Y221F	probably damaging	Het
Olfr1040	A	G	2: 86,146,630 (GRCm38)	Y35H	probably damaging	Het
Olfr348	C	A	2: 36,786,862 (GRCm38)	D112E	probably benign	Het
Olfr365	A	C	2: 37,202,184 (GRCm38)		probably null	Het
Osbpl8	A	G	10: 111,272,282 (GRCm38)	M380V	probably benign	Het
Pank1	T	C	19: 34,821,706 (GRCm38)		probably benign	Het
Parn	T	C	16: 13,654,476 (GRCm38)	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,603,192 (GRCm38)	I311N	probably damaging	Het
Pprc1	T	C	19: 46,062,775 (GRCm38)	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,254,234 (GRCm38)	C322R	probably benign	Het
Ptpn13	T	A	5: 103,555,062 (GRCm38)	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,069,072 (GRCm38)	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Sass6	C	A	3: 116,607,308 (GRCm38)		probably benign	Het
Shroom3	G	A	5: 92,951,293 (GRCm38)	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,184,887 (GRCm38)	Y249*	probably null	Het
Slc9a3	C	T	13: 74,121,536 (GRCm38)	P8S	unknown	Het
Slc9a9	T	A	9: 94,939,563 (GRCm38)		probably null	Het
Syne2	T	A	12: 75,986,975 (GRCm38)	M3666K	probably benign	Het
Synpo2	A	G	3: 123,079,897 (GRCm38)	V1140A	probably benign	Het
Thada	A	G	17: 84,231,096 (GRCm38)	F1495L	probably benign	Het
Timeless	A	G	10: 128,241,425 (GRCm38)		probably null	Het
Tlr6	G	T	5: 64,955,205 (GRCm38)	H120N	possibly damaging	Het
Tmem173	A	G	18: 35,735,111 (GRCm38)		probably null	Het
Tns3	T	C	11: 8,445,703 (GRCm38)	I1234V	probably benign	Het
Ttll9	A	G	2: 153,000,179 (GRCm38)	S318G	probably benign	Het
Vps13c	T	C	9: 67,922,915 (GRCm38)		probably benign	Het
Zfp933	T	C	4: 147,826,442 (GRCm38)	I232M	probably benign	Het
Zfyve27	T	C	19: 42,189,585 (GRCm38)	S382P	probably damaging	Het

Other mutations in Esf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00925:Esf1	APN	2	140,167,817 (GRCm38)	missense	probably benign	0.09
IGL01075:Esf1	APN	2	140,120,745 (GRCm38)	missense	probably benign	0.01
IGL01777:Esf1	APN	2	140,157,172 (GRCm38)	splice site	probably null
IGL01863:Esf1	APN	2	140,120,679 (GRCm38)	missense	probably benign	0.00
IGL01982:Esf1	APN	2	140,164,528 (GRCm38)	missense	probably benign	0.00
IGL02040:Esf1	APN	2	140,129,261 (GRCm38)	missense	possibly damaging	0.70
IGL02063:Esf1	APN	2	140,164,457 (GRCm38)	missense	possibly damaging	0.88
IGL03063:Esf1	APN	2	140,154,786 (GRCm38)	unclassified	probably benign
PIT4418001:Esf1	UTSW	2	140,159,777 (GRCm38)	missense	probably benign	0.18
R0255:Esf1	UTSW	2	140,148,923 (GRCm38)	unclassified	probably benign
R0564:Esf1	UTSW	2	140,158,586 (GRCm38)	missense	possibly damaging	0.86
R0655:Esf1	UTSW	2	140,148,879 (GRCm38)	missense	probably benign	0.25
R0831:Esf1	UTSW	2	140,168,359 (GRCm38)	missense	probably damaging	1.00
R1642:Esf1	UTSW	2	140,158,486 (GRCm38)	missense	possibly damaging	0.85
R1984:Esf1	UTSW	2	140,148,886 (GRCm38)	missense	possibly damaging	0.83
R3981:Esf1	UTSW	2	140,158,556 (GRCm38)	missense	probably benign	0.40
R4736:Esf1	UTSW	2	140,124,971 (GRCm38)	missense	probably damaging	0.98
R5083:Esf1	UTSW	2	140,157,071 (GRCm38)	missense	possibly damaging	0.93
R5083:Esf1	UTSW	2	140,158,579 (GRCm38)	missense	possibly damaging	0.96
R5222:Esf1	UTSW	2	140,158,583 (GRCm38)	missense	possibly damaging	0.86
R5347:Esf1	UTSW	2	140,154,881 (GRCm38)	nonsense	probably null
R5654:Esf1	UTSW	2	140,164,228 (GRCm38)	missense	possibly damaging	0.85
R6123:Esf1	UTSW	2	140,168,389 (GRCm38)	missense	probably benign	0.01
R6132:Esf1	UTSW	2	140,159,779 (GRCm38)	missense	probably benign	0.18
R6299:Esf1	UTSW	2	140,123,634 (GRCm38)	missense	possibly damaging	0.53
R6484:Esf1	UTSW	2	140,158,538 (GRCm38)	missense	probably benign	0.03
R6541:Esf1	UTSW	2	140,167,879 (GRCm38)	missense	probably benign	0.00
R6674:Esf1	UTSW	2	140,120,806 (GRCm38)	nonsense	probably null
R7203:Esf1	UTSW	2	140,164,219 (GRCm38)	missense	possibly damaging	0.53
R7309:Esf1	UTSW	2	140,125,091 (GRCm38)	splice site	probably null
R7379:Esf1	UTSW	2	140,154,934 (GRCm38)	missense	probably benign	0.33
R8131:Esf1	UTSW	2	140,148,831 (GRCm38)	nonsense	probably null
R8270:Esf1	UTSW	2	140,155,113 (GRCm38)	unclassified	probably benign
R9066:Esf1	UTSW	2	140,148,773 (GRCm38)	missense	probably benign	0.02
R9186:Esf1	UTSW	2	140,148,872 (GRCm38)	missense	possibly damaging	0.96
R9618:Esf1	UTSW	2	140,159,794 (GRCm38)	missense	probably benign	0.03
R9688:Esf1	UTSW	2	140,168,175 (GRCm38)	missense	probably damaging	0.97
RF006:Esf1	UTSW	2	140,164,374 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAGGCGAGAGCAGTTATTTGACC -3'
(R):5'- TGCCTTGGGAACCACTTCTCTAGTC -3'

Sequencing Primer
(F):5'- AGAGCAGTTATTTGACCCTCTG -3'
(R):5'- tgcctgtaatcccagttctc -3'

Posted On

2013-04-24