Mutagenetix > Incidental Mutation

Incidental Mutation 'R6541:Esf1'

520746

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

MMRRC Submission

044667-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R6541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140119883-140170564 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140167879 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 179 (V179A)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044825] [ENSMUST00000046030]

AlphaFold

Q3V1V3

Predicted Effect

probably benign
Transcript: ENSMUST00000044825

SMART Domains

Protein: ENSMUSP00000035325
Gene: ENSMUSG00000027384

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Methyltransf_29	45	196	7.1e-8	PFAM
Pfam:Methyltransf_23	53	239	6.4e-16	PFAM
Pfam:Ubie_methyltran	78	204	3e-10	PFAM
Pfam:Methyltransf_18	89	187	1.1e-8	PFAM
Pfam:Methyltransf_31	92	243	9.6e-13	PFAM
Pfam:Methyltransf_25	93	182	1.3e-9	PFAM
Pfam:Methyltransf_12	94	184	2.4e-14	PFAM
Pfam:Methyltransf_11	94	186	6.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046030
AA Change: V179A

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

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: V179A

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: ENSMUST00000123078

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125913

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016D06Rik	T	A	8: 11,662,613	Q79L	probably benign	Het
2410089E03Rik	T	C	15: 8,219,295	V1776A	possibly damaging	Het
Ass1	T	C	2: 31,510,233	V321A	probably damaging	Het
BC028528	T	A	3: 95,888,218	M91L	probably benign	Het
Bicra	T	C	7: 15,979,129	T998A	probably benign	Het
Cdkl3	T	G	11: 52,022,744	L220R	probably damaging	Het
Cluh	A	G	11: 74,657,214	D117G	probably damaging	Het
Crygf	T	C	1: 65,928,065	F116S	probably damaging	Het
Ergic2	T	A	6: 148,183,150	Y20F	probably damaging	Het
Gm28360	T	C	1: 117,830,317		probably benign	Het
Hhatl	C	T	9: 121,785,144	V385I	probably damaging	Het
Iba57	A	T	11: 59,158,863	D219E	possibly damaging	Het
Il1f8	T	A	2: 24,159,815	V146D	probably damaging	Het
Itgal	T	A	7: 127,311,562	V176E	probably damaging	Het
Kdm3a	T	C	6: 71,594,533	M1060V	possibly damaging	Het
Kif18b	T	C	11: 102,914,266	K351R	probably damaging	Het
Mroh9	A	G	1: 163,058,038	F342L	possibly damaging	Het
Ndufa11	T	A	17: 56,717,867	S10T	probably benign	Het
Olfr1152	T	C	2: 87,868,294	F101S	probably benign	Het
Olfr1344	A	T	7: 6,440,493	N198Y	probably benign	Het
Olfr711	A	T	7: 106,972,203	F47Y	probably benign	Het
Olfr871	T	A	9: 20,212,399	F17I	probably benign	Het
Pacsin3	A	G	2: 91,262,784	E207G	probably damaging	Het
Pcsk1	T	A	13: 75,125,984	L136Q	probably damaging	Het
Prr18	G	T	17: 8,341,336	R108L	possibly damaging	Het
Rdh5	A	G	10: 128,918,108	V44A	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Sh2d4b	T	C	14: 40,820,791	T343A	probably benign	Het
Slc16a10	T	C	10: 40,037,272	N480S	probably benign	Het
Sval3	A	T	6: 41,972,446	N73Y	probably damaging	Het
Taar7d	T	C	10: 24,028,231	I337T	probably benign	Het
Ttn	T	A	2: 76,746,695	Q24618L	possibly damaging	Het
Ugt1a9	T	A	1: 88,071,596	V256E	probably damaging	Het
Vmn2r108	T	A	17: 20,481,218	I7F	probably benign	Het
Vmn2r55	A	G	7: 12,671,012	S155P	probably damaging	Het
Vwa3b	T	A	1: 37,051,761	V169E	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
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
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
R9618:Esf1	UTSW	2	140159794	missense	probably benign	0.03
R9688:Esf1	UTSW	2	140168175	missense	probably damaging	0.97
RF006:Esf1	UTSW	2	140164374	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AATCGTTCACCCAACTCTCATG -3'
(R):5'- GCAAAGTCAATTGAAAAGCCGATTG -3'

Sequencing Primer
(F):5'- TGTCTTTTGGTATCAAAACAGGAG -3'
(R):5'- TCAATTGAAAAGCCGATTGAAGAG -3'

Posted On

2018-06-06