Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Esco1'

513096

Institutional Source

Beutler Lab

Gene Symbol

Esco1

Ensembl Gene

ENSMUSG00000024293

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Synonyms

A930014I12Rik

MMRRC Submission

044510-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10566507-10610352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10574931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 714 (F714I)

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: F714I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: F714I

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: F215I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095274
Gene: ENSMUSG00000024293
AA Change: F215I

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: F190I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111530
Gene: ENSMUSG00000024293
AA Change: F190I

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

0.2461

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,985,831 (GRCm39)	Q657*	probably null	Het
Car15	T	C	16: 17,655,930 (GRCm39)	T560A	probably benign	Het
Cass4	C	T	2: 172,274,531 (GRCm39)	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,546 (GRCm39)	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,415,388 (GRCm39)	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,359,461 (GRCm39)	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Dab2ip	A	G	2: 35,600,278 (GRCm39)	H355R	probably benign	Het
Dennd2a	C	T	6: 39,470,076 (GRCm39)	A539T	probably benign	Het
Dnajc18	T	C	18: 35,819,762 (GRCm39)	E173G	probably damaging	Het
Dock7	T	C	4: 98,857,899 (GRCm39)	I1472V	probably benign	Het
Fam107a	T	G	14: 8,299,619 (GRCm38)	H73P	probably damaging	Het
Flg	A	G	3: 93,197,908 (GRCm39)		probably benign	Het
Fyn	C	A	10: 39,402,879 (GRCm39)	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,231,596 (GRCm39)	D330G	probably benign	Het
Gin1	T	C	1: 97,720,264 (GRCm39)	S509P	possibly damaging	Het
Gm17067	A	C	7: 42,357,906 (GRCm39)	S199A	probably benign	Het
Grk4	A	T	5: 34,831,881 (GRCm39)	K50M	probably damaging	Het
Inpp4b	A	G	8: 82,629,481 (GRCm39)	H272R	probably benign	Het
Ipo7	T	A	7: 109,626,336 (GRCm39)	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,756,191 (GRCm39)	I515T	probably damaging	Het
Kcnu1	T	A	8: 26,351,208 (GRCm39)	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,064,096 (GRCm39)	N336S	probably benign	Het
Lbr	G	T	1: 181,659,720 (GRCm39)	D158E	probably benign	Het
Mphosph10	T	C	7: 64,039,703 (GRCm39)	Q89R	probably benign	Het
Nectin3	T	A	16: 46,231,472 (GRCm39)	T21S	probably benign	Het
Numb	C	A	12: 83,844,036 (GRCm39)	R383L	probably damaging	Het
Or2p2	A	T	13: 21,256,753 (GRCm39)	N239K	probably damaging	Het
Or9a7	G	T	6: 40,521,647 (GRCm39)	Q89K	possibly damaging	Het
Pcdhb11	A	T	18: 37,555,212 (GRCm39)	I181F	probably benign	Het
Pcgf2	T	A	11: 97,583,235 (GRCm39)		probably null	Het
Pdzd8	T	C	19: 59,289,415 (GRCm39)	T662A	probably benign	Het
Pex13	A	C	11: 23,605,690 (GRCm39)	V180G	probably benign	Het
Pira1	A	T	7: 3,739,503 (GRCm39)	L455Q	probably damaging	Het
Pkp4	T	A	2: 59,045,091 (GRCm39)	V22D	probably benign	Het
Prkn	T	C	17: 12,222,939 (GRCm39)	F363S	probably damaging	Het
Prpf4b	A	C	13: 35,085,416 (GRCm39)	D954A	probably damaging	Het
Rfx8	T	C	1: 39,720,125 (GRCm39)	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,598,868 (GRCm39)	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778 (GRCm39)	C453S	possibly damaging	Het
Saxo4	T	C	19: 10,456,845 (GRCm39)	N167D	probably damaging	Het
Scarf1	G	T	11: 75,406,495 (GRCm39)	G260W	probably damaging	Het
Scyl1	T	C	19: 5,810,599 (GRCm39)	E538G	probably damaging	Het
Sec14l5	A	T	16: 4,990,859 (GRCm39)	I267F	probably damaging	Het
Senp6	T	A	9: 80,021,088 (GRCm39)	V256D	probably benign	Het
Sf3b4	G	A	3: 96,084,044 (GRCm39)		probably benign	Het
Ssh1	T	C	5: 114,099,408 (GRCm39)		probably null	Het
Tas2r143	A	C	6: 42,377,769 (GRCm39)	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,098,830 (GRCm39)	P19S	probably damaging	Het
Tent5b	T	C	4: 133,214,067 (GRCm39)	F313L	probably damaging	Het
Tmc5	T	A	7: 118,233,189 (GRCm39)	M1K	probably null	Het
Tnc	T	C	4: 63,918,970 (GRCm39)	Y1151C	probably damaging	Het
Tshz3	A	G	7: 36,468,866 (GRCm39)	E285G	probably damaging	Het
Txndc11	C	T	16: 10,902,656 (GRCm39)	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,553,908 (GRCm39)	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476 (GRCm39)	I369L	probably benign	Het
Vwf	A	T	6: 125,660,489 (GRCm39)	T2666S	probably benign	Het
Yif1a	A	G	19: 5,142,369 (GRCm39)	M259V	probably benign	Het
Zbtb46	T	C	2: 181,033,248 (GRCm39)	D471G	probably damaging	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
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'- ACGGACTAATTCCCACCTTCAT -3'
(R):5'- TCAGCACATATACCTAAAATAGTCCT -3'

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

Posted On

2018-04-27