Mutagenetix > Incidental Mutation

Incidental Mutation 'R8877:Esco1'

676659

Institutional Source

Beutler Lab

Gene Symbol

Esco1

Ensembl Gene

ENSMUSG00000024293

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Synonyms

A930014I12Rik

MMRRC Submission

068745-MU

Accession Numbers

Essential gene?

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

Stock #

R8877 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10566507-10610352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10575017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 685 (V685A)

Ref Sequence

ENSEMBL: ENSMUSP00000025142 (fasta)

Gene Model

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

AlphaFold

Q69Z69

Predicted Effect

probably damaging
Transcript: ENSMUST00000025142
AA Change: V685A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: V685A

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 damaging
Transcript: ENSMUST00000097670
AA Change: V186A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293
AA Change: V186A

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 damaging
Transcript: ENSMUST00000115864
AA Change: V161A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: V161A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (58/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,704 (GRCm39)		probably null	Het
Acp2	G	A	2: 91,036,129 (GRCm39)	R109H	probably damaging	Het
Adamts8	T	C	9: 30,862,688 (GRCm39)	S298P	probably damaging	Het
Anxa7	A	G	14: 20,517,548 (GRCm39)	V157A	probably benign	Het
Arid3b	T	C	9: 57,740,904 (GRCm39)	K181E	probably damaging	Het
Armt1	A	G	10: 4,400,864 (GRCm39)	T204A	possibly damaging	Het
Brip1	A	C	11: 86,043,532 (GRCm39)	V344G	possibly damaging	Het
Ccdc40	C	T	11: 119,153,992 (GRCm39)	S1088L	probably damaging	Het
Ccdc93	A	T	1: 121,403,867 (GRCm39)	H332L	probably benign	Het
Celsr3	A	G	9: 108,706,877 (GRCm39)	D1120G	probably damaging	Het
Cep104	T	A	4: 154,077,985 (GRCm39)	I631N	probably damaging	Het
Col17a1	C	T	19: 47,637,197 (GRCm39)	A1354T	unknown	Het
Cpa2	T	C	6: 30,541,692 (GRCm39)	L10P	probably damaging	Het
Creg2	G	T	1: 39,689,861 (GRCm39)	T83K	probably benign	Het
Ddit3	T	C	10: 127,131,884 (GRCm39)	I144T	probably damaging	Het
Dmxl1	A	G	18: 50,011,292 (GRCm39)	I1150V	possibly damaging	Het
Eprs1	C	T	1: 185,148,071 (GRCm39)	R1278*	probably null	Het
Gid8	C	T	2: 180,358,710 (GRCm39)	A125V	probably damaging	Het
Gin1	A	G	1: 97,710,941 (GRCm39)	D208G	possibly damaging	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Grin2d	T	C	7: 45,503,699 (GRCm39)	I679V	probably damaging	Het
Gsto2	C	A	19: 47,873,176 (GRCm39)	R184S	probably damaging	Het
Hira	T	A	16: 18,770,854 (GRCm39)	H830Q	probably benign	Het
Hmcn1	G	A	1: 150,514,659 (GRCm39)	T3571I	probably benign	Het
Khnyn	T	C	14: 56,131,782 (GRCm39)	V568A	possibly damaging	Het
Kif13a	T	A	13: 46,954,921 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,193,835 (GRCm39)	V161A	probably benign	Het
Larp6	T	A	9: 60,644,850 (GRCm39)	M330K	probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Mavs	A	G	2: 131,087,489 (GRCm39)	N329S	possibly damaging	Het
Mep1b	T	A	18: 21,221,630 (GRCm39)	N193K	possibly damaging	Het
Msantd5f6	T	A	4: 73,322,468 (GRCm39)	R12*	probably null	Het
Mttp	A	T	3: 137,818,317 (GRCm39)	D380E	probably damaging	Het
Nbeal2	G	A	9: 110,459,311 (GRCm39)	T1939I	probably damaging	Het
Nsun7	A	T	5: 66,453,294 (GRCm39)	R670*	probably null	Het
Obsl1	G	A	1: 75,473,167 (GRCm39)	R1019*	probably null	Het
Or10ak12	A	G	4: 118,666,482 (GRCm39)	V193A	probably damaging	Het
Or5w11	T	C	2: 87,459,212 (GRCm39)	M19T	probably damaging	Het
Phc3	C	T	3: 30,968,271 (GRCm39)	V922I	probably damaging	Het
Pip5kl1	T	C	2: 32,468,951 (GRCm39)	V190A	possibly damaging	Het
Plekhg2	G	T	7: 28,060,278 (GRCm39)	T993N	possibly damaging	Het
Psg26	C	T	7: 18,217,865 (GRCm39)	V18I	probably benign	Het
Slc11a1	A	G	1: 74,419,424 (GRCm39)	Y187C	probably damaging	Het
Smarcd3	A	G	5: 24,798,990 (GRCm39)	S323P	possibly damaging	Het
Spen	G	T	4: 141,199,137 (GRCm39)	Y3163*	probably null	Het
Stx4a	T	A	7: 127,447,633 (GRCm39)	V259D	probably damaging	Het
Synj2	T	C	17: 6,087,941 (GRCm39)	S1331P	probably damaging	Het
Tmprss11c	G	A	5: 86,385,540 (GRCm39)	Q311*	probably null	Het
Tpo	T	A	12: 30,142,738 (GRCm39)	N662I	probably damaging	Het
Trav13d-4	C	A	14: 53,995,350 (GRCm39)	D101E	probably damaging	Het
Trbv14	G	A	6: 41,112,292 (GRCm39)	A30T	probably benign	Het
Unc80	T	C	1: 66,567,144 (GRCm39)	S917P	possibly damaging	Het
Zc3h6	T	A	2: 128,856,319 (GRCm39)	C466*	probably null	Het
Zfp462	T	C	4: 55,011,097 (GRCm39)	V1021A	probably damaging	Het
Zfp51	T	C	17: 21,682,017 (GRCm39)	M72T	probably damaging	Het
Zfp704	C	T	3: 9,674,416 (GRCm39)	E122K	unknown	Het
Zfyve26	T	C	12: 79,334,152 (GRCm39)	K289E	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
R2140:Esco1	UTSW	18	10,574,873 (GRCm39)	critical splice donor site	probably null
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
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'- GACGGACTAATTCCCACCTTCAT -3'
(R):5'- AGCACATATACCTAAAATAGTCCTTCA -3'

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

Posted On

2021-07-15