Mutagenetix > Incidental Mutation

Incidental Mutation 'R1984:Esf1'

220281

Institutional Source

Beutler Lab

Gene Symbol

Esf1

Ensembl Gene

ENSMUSG00000045624

Gene Name

ESF1 nucleolar pre-rRNA processing protein homolog

Synonyms

2610101J03Rik

MMRRC Submission

039996-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R1984 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139961803-140012484 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139990806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 559 (D559E)

Ref Sequence

ENSEMBL: ENSMUSP00000036523 (fasta)

Gene Model

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

AlphaFold

Q3V1V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046030
AA Change: D559E

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036523
Gene: ENSMUSG00000045624
AA Change: D559E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153769

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,778 (GRCm39)	L81H	probably damaging	Het
Abca8b	A	G	11: 109,868,667 (GRCm39)	C166R	probably damaging	Het
Adgrv1	T	A	13: 81,671,868 (GRCm39)	E2242D	probably damaging	Het
Agap1	T	C	1: 89,694,045 (GRCm39)	S448P	probably benign	Het
Aldh1a2	T	C	9: 71,160,334 (GRCm39)	L120P	probably damaging	Het
Alkbh2	T	C	5: 114,262,115 (GRCm39)	N205S	probably benign	Het
Anapc1	C	A	2: 128,511,608 (GRCm39)	G493C	possibly damaging	Het
Aox3	A	T	1: 58,192,220 (GRCm39)	I497F	possibly damaging	Het
Atp2b1	T	C	10: 98,850,354 (GRCm39)	S826P	possibly damaging	Het
Atp8b4	T	A	2: 126,164,928 (GRCm39)	R1129S	probably damaging	Het
Bche	T	A	3: 73,609,159 (GRCm39)	Q89L	probably benign	Het
Bche	G	T	3: 73,609,160 (GRCm39)	Q89K	probably benign	Het
Bcl9	T	C	3: 97,121,050 (GRCm39)	K171E	probably damaging	Het
Cacna1b	A	T	2: 24,538,998 (GRCm39)	Y1488N	probably damaging	Het
Dock8	A	G	19: 25,098,545 (GRCm39)	N623S	probably null	Het
Dok6	T	C	18: 89,578,234 (GRCm39)	E61G	probably damaging	Het
Duxf4	T	A	10: 58,071,785 (GRCm39)	Q143L	possibly damaging	Het
F11r	A	G	1: 171,289,438 (GRCm39)	I254V	probably benign	Het
Fkrp	A	G	7: 16,545,802 (GRCm39)	V20A	probably benign	Het
Fscb	T	C	12: 64,521,457 (GRCm39)	E3G	unknown	Het
Hdlbp	A	G	1: 93,358,840 (GRCm39)	I237T	probably damaging	Het
Hfm1	A	T	5: 107,046,442 (GRCm39)	D481E	probably damaging	Het
Hspa4l	T	C	3: 40,714,833 (GRCm39)	V156A	probably damaging	Het
Igfn1	A	G	1: 135,889,782 (GRCm39)	S2422P	probably benign	Het
Il23r	T	A	6: 67,467,652 (GRCm39)		probably null	Het
Il24	G	A	1: 130,810,268 (GRCm39)	T196I	probably benign	Het
Isg15	T	C	4: 156,284,250 (GRCm39)	I93V	probably benign	Het
Kcna6	T	C	6: 126,715,473 (GRCm39)	E472G	probably benign	Het
Kif21b	G	A	1: 136,075,284 (GRCm39)	D166N	probably damaging	Het
Lilrb4b	A	T	10: 51,357,831 (GRCm39)	Q80L	possibly damaging	Het
Lrrc69	T	C	4: 14,708,669 (GRCm39)	E225G	possibly damaging	Het
Marchf6	A	T	15: 31,469,792 (GRCm39)	L726Q	probably damaging	Het
Megf6	G	T	4: 154,352,124 (GRCm39)	G1210C	probably damaging	Het
Msh2	C	T	17: 88,026,724 (GRCm39)	T740I	probably damaging	Het
Myh14	T	C	7: 44,288,446 (GRCm39)	Y514C	probably damaging	Het
Myorg	C	A	4: 41,497,501 (GRCm39)	A710S	possibly damaging	Het
Nedd1	T	C	10: 92,550,022 (GRCm39)	T88A	possibly damaging	Het
Nfkb1	G	A	3: 135,321,110 (GRCm39)	T215I	possibly damaging	Het
Obox1	A	T	7: 15,289,135 (GRCm39)	I17L	probably benign	Het
Or11g24	A	T	14: 50,662,848 (GRCm39)	I291L	possibly damaging	Het
Palb2	A	C	7: 121,726,303 (GRCm39)	H522Q	probably damaging	Het
Pde4c	C	T	8: 71,177,191 (GRCm39)	T6M	probably damaging	Het
Plekhg1	A	G	10: 3,908,181 (GRCm39)	K97E	probably damaging	Het
Plod3	A	G	5: 137,019,707 (GRCm39)		probably null	Het
Plppr3	A	T	10: 79,703,294 (GRCm39)	Y63*	probably null	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Qrich1	T	C	9: 108,411,246 (GRCm39)	V257A	probably damaging	Het
Rpl14	A	G	9: 120,401,253 (GRCm39)	D32G	possibly damaging	Het
Senp8	A	G	9: 59,644,721 (GRCm39)	V132A	possibly damaging	Het
Serac1	A	G	17: 6,095,964 (GRCm39)		probably null	Het
Sh2d3c	T	A	2: 32,639,256 (GRCm39)	C295*	probably null	Het
Stab1	A	G	14: 30,872,605 (GRCm39)	F1142L	probably benign	Het
Stam2	T	C	2: 52,599,638 (GRCm39)	T257A	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tg	A	G	15: 66,554,691 (GRCm39)	E702G	probably benign	Het
Tgif2lx2	A	T	X: 117,337,690 (GRCm39)	K218*	probably null	Het
Tpp1	C	A	7: 105,400,905 (GRCm39)	V41L	probably benign	Het
Tulp3	A	T	6: 128,303,769 (GRCm39)	S277T	probably benign	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp683	T	C	4: 133,784,766 (GRCm39)	F338L	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
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
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'- CAGAAAATCTCTGGAAAATAAACCCT -3'
(R):5'- ACTCTTCATGCATAGGAGGGAATATT -3'

Sequencing Primer
(F):5'- TCTCACCTGGAACCCATT -3'
(R):5'- CTCTAGCAGTGACTACATCAC -3'

Posted On

2014-08-25