Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Esco1'

236184

Institutional Source

Beutler Lab

Gene Symbol

Esco1

Ensembl Gene

ENSMUSG00000024293

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Synonyms

A930014I12Rik

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10566507-10610352 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 10574873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025142] [ENSMUST00000097670] [ENSMUST00000097670] [ENSMUST00000115864] [ENSMUST00000115864]

AlphaFold

Q69Z69

Predicted Effect

probably null
Transcript: ENSMUST00000025142

SMART Domains

Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
coiled coil region	8	32	N/A	INTRINSIC
low complexity region	117	128	N/A	INTRINSIC
low complexity region	322	338	N/A	INTRINSIC
low complexity region	463	477	N/A	INTRINSIC
Pfam:zf-C2H2_3	607	646	4.7e-17	PFAM
Pfam:Acetyltransf_13	766	834	1.3e-32	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097670

SMART Domains

Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	108	148	1.7e-19	PFAM
Pfam:Acetyltransf_13	266	335	4.6e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000097670

SMART Domains

Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	108	148	1.7e-19	PFAM
Pfam:Acetyltransf_13	266	335	4.6e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115864

SMART Domains

Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	83	123	1.8e-19	PFAM
Pfam:Acetyltransf_13	241	310	4.1e-35	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115864

SMART Domains

Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293

Domain	Start	End	E-Value	Type
Pfam:zf-C2H2_3	83	123	1.8e-19	PFAM
Pfam:Acetyltransf_13	241	310	4.1e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145320

Meta Mutation Damage Score

0.9590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
Adgrf1	A	C	17: 43,611,693 (GRCm39)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,665,378 (GRCm39)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Alppl2	A	G	1: 87,015,419 (GRCm39)	S381P	probably benign	Het
Aqp2	A	G	15: 99,477,247 (GRCm39)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,779,302 (GRCm39)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,826,995 (GRCm39)		noncoding transcript	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,947,809 (GRCm39)	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,764,389 (GRCm39)	D1341G	probably damaging	Het
Cfap300	T	C	9: 8,022,478 (GRCm39)	D248G	probably damaging	Het
Cir1	A	T	2: 73,142,781 (GRCm39)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Crb1	T	C	1: 139,164,750 (GRCm39)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,919,716 (GRCm39)	V20D	possibly damaging	Het
Dars1	T	A	1: 128,299,899 (GRCm39)	M362L	probably benign	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Dnah11	T	C	12: 117,972,545 (GRCm39)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 180,790,535 (GRCm39)	E374K	probably benign	Het
Eif3a	A	T	19: 60,763,832 (GRCm39)		probably benign	Het
Exoc8	C	T	8: 125,624,154 (GRCm39)	R71Q	possibly damaging	Het
Far1	G	A	7: 113,165,667 (GRCm39)	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,185,730 (GRCm39)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,425,393 (GRCm39)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,838,540 (GRCm39)	P276H	unknown	Het
Fpr3	T	A	17: 18,190,879 (GRCm39)	V50E	probably damaging	Het
Garem1	T	A	18: 21,262,431 (GRCm39)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm4787	A	G	12: 81,425,336 (GRCm39)	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,026,193 (GRCm39)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 95,901,549 (GRCm39)	503	probably null	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ints13	A	G	6: 146,477,929 (GRCm39)	S7P	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,364,288 (GRCm39)	L988R	probably damaging	Het
Kcnq3	C	A	15: 65,877,827 (GRCm39)		probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,453,591 (GRCm39)	Q265L	probably damaging	Het
Lama2	A	T	10: 26,930,690 (GRCm39)		probably null	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,701,771 (GRCm39)	E350K	probably damaging	Het
Lrrk1	A	T	7: 65,980,498 (GRCm39)	D227E	probably damaging	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Madd	A	G	2: 90,982,854 (GRCm39)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,883,334 (GRCm39)	V295A	probably benign	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,717,059 (GRCm39)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,462,043 (GRCm39)	Y313C	probably damaging	Het
Myot	A	T	18: 44,487,192 (GRCm39)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,467,772 (GRCm39)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,674,253 (GRCm39)	D877E	probably damaging	Het
Nle1	A	G	11: 82,796,394 (GRCm39)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Nostrin	A	C	2: 68,996,347 (GRCm39)	Y209S	probably damaging	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or1e19	A	T	11: 73,316,707 (GRCm39)	M34K	probably damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or5d40	A	T	2: 88,015,439 (GRCm39)	S73C	probably benign	Het
Or8h9	A	T	2: 86,789,625 (GRCm39)	M59K	probably damaging	Het
Or8s2	G	A	15: 98,276,277 (GRCm39)	T238I	possibly damaging	Het
Pcdh7	T	A	5: 58,286,338 (GRCm39)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 91,933,874 (GRCm39)	V173G	probably benign	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,040,765 (GRCm39)	D1787G	probably benign	Het
Pms1	T	A	1: 53,321,147 (GRCm39)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,653,908 (GRCm39)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,118,430 (GRCm39)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,887,800 (GRCm39)	F120S	probably benign	Het
Rab7b	T	A	1: 131,626,157 (GRCm39)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,575,493 (GRCm39)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,705,493 (GRCm39)	V807A	probably benign	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,759,487 (GRCm39)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,392,408 (GRCm39)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,875,481 (GRCm39)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tasor	C	T	14: 27,201,992 (GRCm39)	T1462I	probably damaging	Het
Tiam1	A	G	16: 89,646,533 (GRCm39)		probably benign	Het
Tiparp	C	A	3: 65,436,673 (GRCm39)		probably benign	Het
Tmem39b	T	C	4: 129,572,481 (GRCm39)	T374A	probably benign	Het
Trim5	G	A	7: 103,925,998 (GRCm39)	R188*	probably null	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,038,196 (GRCm39)	E590D	probably benign	Het
Wwc1	A	G	11: 35,761,355 (GRCm39)	F650S	probably benign	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp1005	A	T	2: 150,111,281 (GRCm39)	H657L	probably benign	Het

Other mutations in Esco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00673:Esco1	APN	18	10,582,078 (GRCm39)	missense	probably damaging	1.00
IGL01376:Esco1	APN	18	10,594,892 (GRCm39)	nonsense	probably null
IGL01886:Esco1	APN	18	10,595,262 (GRCm39)	missense	probably damaging	1.00
IGL03171:Esco1	APN	18	10,594,263 (GRCm39)	missense	probably damaging	1.00
IGL03233:Esco1	APN	18	10,574,877 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Esco1	UTSW	18	10,572,093 (GRCm39)	missense	probably damaging	1.00
PIT4585001:Esco1	UTSW	18	10,594,355 (GRCm39)	nonsense	probably null
R0266:Esco1	UTSW	18	10,594,605 (GRCm39)	missense	probably benign	0.00
R0445:Esco1	UTSW	18	10,574,989 (GRCm39)	missense	probably damaging	1.00
R0494:Esco1	UTSW	18	10,594,940 (GRCm39)	missense	probably benign	0.28
R0965:Esco1	UTSW	18	10,567,570 (GRCm39)	missense	probably damaging	1.00
R1834:Esco1	UTSW	18	10,594,350 (GRCm39)	missense	probably damaging	1.00
R2141:Esco1	UTSW	18	10,574,873 (GRCm39)	critical splice donor site	probably null
R2142:Esco1	UTSW	18	10,574,873 (GRCm39)	critical splice donor site	probably null
R4562:Esco1	UTSW	18	10,595,074 (GRCm39)	missense	possibly damaging	0.74
R4668:Esco1	UTSW	18	10,594,734 (GRCm39)	missense	possibly damaging	0.60
R5083:Esco1	UTSW	18	10,594,734 (GRCm39)	missense	probably benign	0.00
R5128:Esco1	UTSW	18	10,567,468 (GRCm39)	utr 3 prime	probably benign
R5407:Esco1	UTSW	18	10,574,886 (GRCm39)	missense	probably damaging	1.00
R5454:Esco1	UTSW	18	10,584,327 (GRCm39)	missense	probably benign
R5870:Esco1	UTSW	18	10,593,744 (GRCm39)	critical splice donor site	probably null
R5965:Esco1	UTSW	18	10,593,867 (GRCm39)	missense	possibly damaging	0.94
R6360:Esco1	UTSW	18	10,574,931 (GRCm39)	missense	probably damaging	1.00
R6390:Esco1	UTSW	18	10,567,528 (GRCm39)	missense	probably damaging	1.00
R6438:Esco1	UTSW	18	10,572,031 (GRCm39)	missense	probably damaging	1.00
R6524:Esco1	UTSW	18	10,582,188 (GRCm39)	critical splice acceptor site	probably null
R6534:Esco1	UTSW	18	10,594,794 (GRCm39)	missense	possibly damaging	0.90
R6633:Esco1	UTSW	18	10,595,738 (GRCm39)	intron	probably benign
R8743:Esco1	UTSW	18	10,572,123 (GRCm39)	missense	probably damaging	1.00
R8877:Esco1	UTSW	18	10,575,017 (GRCm39)	missense	probably damaging	1.00
R9065:Esco1	UTSW	18	10,594,005 (GRCm39)	missense	probably benign	0.00
R9141:Esco1	UTSW	18	10,594,731 (GRCm39)	missense	possibly damaging	0.87
R9739:Esco1	UTSW	18	10,594,218 (GRCm39)	missense	probably benign	0.08
R9750:Esco1	UTSW	18	10,594,510 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACGGACTAATTCCCACCTTCA -3'
(R):5'- AGCACATATACCTAAAATAGTCCTTCA -3'

Sequencing Primer
(F):5'- ATGGTGGCTCACAACCATCTG -3'
(R):5'- AATAGTCCTTCAAGCTGGGC -3'

Posted On

2014-10-01