Mutagenetix > Incidental Mutation

Incidental Mutation 'R8131:Esf1'

631999

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

2610101J03Rik

MMRRC Submission

067560-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R8131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139961803-140012484 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 139990751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 578 (Q578*)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046030] [ENSMUST00000104994]

AlphaFold

Q3V1V3

Predicted Effect

probably null
Transcript: ENSMUST00000046030
AA Change: Q578*

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: Q578*

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

probably benign
Transcript: ENSMUST00000104994

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,506,834 (GRCm39)		probably null	Het
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Acan	C	T	7: 78,741,086 (GRCm39)	P484L	possibly damaging	Het
Amotl2	T	A	9: 102,597,615 (GRCm39)	Y125N	probably damaging	Het
Apaf1	C	A	10: 90,913,420 (GRCm39)	V168F	possibly damaging	Het
Arhgap32	C	T	9: 32,158,426 (GRCm39)	H154Y	probably damaging	Het
B4galnt3	A	G	6: 120,271,346 (GRCm39)		probably null	Het
Bahcc1	C	T	11: 120,163,664 (GRCm39)	A654V	probably benign	Het
Bcl11b	T	A	12: 107,931,967 (GRCm39)	M202L	probably benign	Het
Cdc40	C	A	10: 40,717,473 (GRCm39)	R406L	possibly damaging	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Col26a1	T	C	5: 136,775,894 (GRCm39)	D353G	probably benign	Het
Col6a5	T	A	9: 105,778,815 (GRCm39)	Q1682L	unknown	Het
Cul9	C	T	17: 46,822,168 (GRCm39)	G1819D	probably damaging	Het
Cyp2b10	C	T	7: 25,614,242 (GRCm39)	Q239*	probably null	Het
Dthd1	T	A	5: 63,000,259 (GRCm39)	I527N	probably damaging	Het
Dzip3	C	T	16: 48,754,156 (GRCm39)		probably null	Het
Ecm2	A	G	13: 49,671,940 (GRCm39)	E147G	probably benign	Het
Ercc6l2	C	T	13: 63,982,561 (GRCm39)	T132M	probably damaging	Het
Gria4	C	T	9: 4,502,429 (GRCm39)	R368H	probably benign	Het
Hps5	T	C	7: 46,421,312 (GRCm39)	D717G	probably benign	Het
Hrh1	A	T	6: 114,457,253 (GRCm39)	D178V	probably benign	Het
Inppl1	T	C	7: 101,479,268 (GRCm39)	N537S	possibly damaging	Het
Itih1	T	C	14: 30,663,521 (GRCm39)	Y165C	probably damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Larp4	T	C	15: 99,892,570 (GRCm39)	V255A	probably damaging	Het
Lrriq1	T	G	10: 103,051,572 (GRCm39)	R393S	possibly damaging	Het
Mep1a	T	A	17: 43,813,558 (GRCm39)	I31L	probably benign	Het
Muc5b	C	T	7: 141,396,146 (GRCm39)	T134I	unknown	Het
Neurl4	T	C	11: 69,800,067 (GRCm39)	Y1052H	probably benign	Het
Nlrc5	C	G	8: 95,208,420 (GRCm39)	N755K	probably damaging	Het
Nrde2	T	C	12: 100,108,502 (GRCm39)	K363R	probably benign	Het
Pcdhb12	T	C	18: 37,570,335 (GRCm39)	S494P	possibly damaging	Het
Pcnx1	C	A	12: 81,965,292 (GRCm39)	S486R	possibly damaging	Het
Pira13	T	A	7: 3,825,161 (GRCm39)	R494*	probably null	Het
Plrg1	T	A	3: 82,977,081 (GRCm39)	V374E	probably damaging	Het
Plxnb2	A	G	15: 89,042,916 (GRCm39)	I1491T	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn4a	T	C	11: 106,232,367 (GRCm39)	E490G	probably benign	Het
Sec16a	A	G	2: 26,300,958 (GRCm39)	V887A		Het
Serpina3a	T	C	12: 104,082,467 (GRCm39)	I80T	probably damaging	Het
Setd1b	A	T	5: 123,281,443 (GRCm39)	I66F	unknown	Het
Slirp	T	A	12: 87,494,428 (GRCm39)		probably null	Het
Socs6	A	C	18: 88,888,169 (GRCm39)	S249A	probably benign	Het
Thoc2l	A	G	5: 104,669,027 (GRCm39)	E1183G	possibly damaging	Het
Ttn	A	T	2: 76,616,077 (GRCm39)	I16622N	probably damaging	Het
Uox	A	T	3: 146,331,589 (GRCm39)	T237S	probably damaging	Het
Vmn2r43	T	A	7: 8,258,326 (GRCm39)	I296L	probably benign	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vps13b	T	C	15: 35,372,255 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,707 (GRCm39)	V962A		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
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'- GATAGTTACATGTTAATTCTGAGGTGA -3'
(R):5'- ACATCTGAGTTTGACTAAGTACAAGAC -3'

Sequencing Primer
(F):5'- GCTTCTAAAGAAGAGTTAGCA -3'
(R):5'- GACTAAGGTCTAGTTGAAGGTAATTG -3'

Posted On

2020-06-30