Mutagenetix > Incidental Mutation

Incidental Mutation 'R6299:Esf1'

508947

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

2610101J03Rik

MMRRC Submission

044465-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R6299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139961803-140012484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139965554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 714 (K714R)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046030
AA Change: K714R

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: K714R

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: 99.4%
20x: 98.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	G	A	6: 118,395,476 (GRCm39)	R24W	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,126 (GRCm39)	S60C	probably damaging	Het
Cabcoco1	A	G	10: 68,272,720 (GRCm39)	Y222H	probably damaging	Het
Cc2d1b	T	C	4: 108,485,335 (GRCm39)	V559A	probably benign	Het
Cgrrf1	T	A	14: 47,077,647 (GRCm39)	N46K	probably damaging	Het
Clca3a1	T	C	3: 144,464,275 (GRCm39)	D114G	probably damaging	Het
Clcnkb	T	A	4: 141,138,034 (GRCm39)	L279F	probably damaging	Het
Cr2	T	C	1: 194,850,954 (GRCm39)	T151A	probably damaging	Het
Creb3l3	C	T	10: 80,924,447 (GRCm39)	E236K	probably damaging	Het
Dcstamp	T	A	15: 39,618,599 (GRCm39)	V336D	probably damaging	Het
Dop1a	T	G	9: 86,386,265 (GRCm39)	F379V	probably damaging	Het
Exoc3l4	A	T	12: 111,388,513 (GRCm39)	M1L	possibly damaging	Het
Extl3	T	C	14: 65,314,121 (GRCm39)	R354G	probably benign	Het
Fastkd3	T	C	13: 68,735,855 (GRCm39)	L535P	probably damaging	Het
Gab2	A	G	7: 96,731,066 (GRCm39)	T12A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,386,438 (GRCm39)	S1187T	probably benign	Het
Haus3	A	G	5: 34,325,140 (GRCm39)	V173A	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hspg2	A	G	4: 137,272,016 (GRCm39)	Y2566C	probably damaging	Het
Inpp5f	A	T	7: 128,237,884 (GRCm39)	T34S	possibly damaging	Het
Iqck	G	A	7: 118,475,485 (GRCm39)	G70S	unknown	Het
Jade1	T	C	3: 41,568,160 (GRCm39)	F743L	probably damaging	Het
Kif5a	T	C	10: 127,069,690 (GRCm39)	K845R	probably damaging	Het
Klhl30	A	G	1: 91,285,636 (GRCm39)		probably null	Het
Map2k1	T	C	9: 64,121,772 (GRCm39)	D67G	possibly damaging	Het
Mcm9	A	C	10: 53,413,777 (GRCm39)	C434W	probably damaging	Het
Muc4	T	G	16: 32,570,853 (GRCm39)	S638A	possibly damaging	Het
Nectin3	A	G	16: 46,284,345 (GRCm39)	V113A	probably damaging	Het
Nfya	T	C	17: 48,699,938 (GRCm39)		probably benign	Het
Nup155	G	T	15: 8,157,922 (GRCm39)	A460S	possibly damaging	Het
Nup210	T	C	6: 91,051,270 (GRCm39)	E371G	possibly damaging	Het
Olfm3	T	C	3: 114,914,632 (GRCm39)	S228P	probably damaging	Het
Or52n20	C	A	7: 104,320,075 (GRCm39)	D55E	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Plin1	A	C	7: 79,371,224 (GRCm39)	V500G	probably benign	Het
Ppfia1	A	C	7: 144,064,049 (GRCm39)	M513R	probably benign	Het
Ppp1cb	T	A	5: 32,640,798 (GRCm39)	C27*	probably null	Het
Prss22	T	A	17: 24,215,408 (GRCm39)	I123F	probably damaging	Het
Rbm24	G	T	13: 46,572,549 (GRCm39)	V15L	probably damaging	Het
Reln	T	C	5: 22,491,942 (GRCm39)	T97A	possibly damaging	Het
Sipa1l2	T	C	8: 126,180,203 (GRCm39)	T1065A	possibly damaging	Het
Sipa1l3	A	C	7: 29,065,974 (GRCm39)		probably null	Het
Snrnp200	T	A	2: 127,064,081 (GRCm39)	Y689*	probably null	Het
Srcap	T	C	7: 127,129,626 (GRCm39)		probably benign	Het
Sv2a	T	C	3: 96,095,565 (GRCm39)		probably null	Het
Tcf12	A	T	9: 71,766,211 (GRCm39)	V474D	probably damaging	Het
Tpcn2	A	T	7: 144,815,980 (GRCm39)	S403T	probably damaging	Het
Trim65	C	A	11: 116,017,377 (GRCm39)	A362S	probably benign	Het
Trmt1	T	A	8: 85,423,919 (GRCm39)	C36*	probably null	Het
Trpm8	T	A	1: 88,282,201 (GRCm39)	L699Q	probably damaging	Het
Ube2m	A	C	7: 12,769,797 (GRCm39)	I116R	probably damaging	Het
Ulk1	T	C	5: 110,938,963 (GRCm39)	K492E	possibly damaging	Het
Usp40	T	A	1: 87,925,649 (GRCm39)	K193N	probably damaging	Het
Vmn1r3	A	G	4: 3,185,098 (GRCm39)	S70P	possibly damaging	Het
Vmn2r2	T	A	3: 64,024,074 (GRCm39)	K836*	probably null	Het
Vmn2r75	T	A	7: 85,814,482 (GRCm39)	H337L	probably benign	Het
Wars1	G	A	12: 108,827,309 (GRCm39)	T437M	probably benign	Het
Zdhhc5	T	C	2: 84,520,825 (GRCm39)	T451A	probably benign	Het
Zfp788	T	G	7: 41,297,965 (GRCm39)	H180Q	possibly damaging	Het
Zkscan7	A	G	9: 122,717,782 (GRCm39)	E59G	probably damaging	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
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
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'- TCCACCCTCTCAGAGAATAGAGG -3'
(R):5'- CTGAAATGAACTTAAGCTGTGTGTC -3'

Sequencing Primer
(F):5'- ACTGTGTGAAGGGAGGACC -3'
(R):5'- AACTTAAGCTGTGTGTCTTGGGC -3'

Posted On

2018-04-02