Mutagenetix > Incidental Mutation

Incidental Mutation 'R5965:Esco1'

472058

Institutional Source

Beutler Lab

Gene Symbol

Esco1

Ensembl Gene

ENSMUSG00000024293

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 1

Synonyms

A930014I12Rik

MMRRC Submission

044150-MU

Accession Numbers

Essential gene?

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

Stock #

R5965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10566507-10610352 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 10593867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 473 (E473G)

Ref Sequence

ENSEMBL: ENSMUSP00000025142 (fasta)

Gene Model

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

AlphaFold

Q69Z69

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025142
AA Change: E473G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025142
Gene: ENSMUSG00000024293
AA Change: E473G

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 benign
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 benign
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

0.0601

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,410,637 (GRCm39)	T23S	probably benign	Het
Armc2	A	G	10: 41,798,568 (GRCm39)	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,579,261 (GRCm39)	H1729L	probably damaging	Het
Crebbp	A	G	16: 3,905,525 (GRCm39)		probably benign	Het
Cyp4f17	T	A	17: 32,743,611 (GRCm39)	M326K	probably damaging	Het
Dchs1	T	G	7: 105,405,132 (GRCm39)	D2470A	probably damaging	Het
Ddhd2	T	C	8: 26,225,804 (GRCm39)	T518A	probably damaging	Het
Derl2	T	C	11: 70,905,378 (GRCm39)	T109A	probably benign	Het
Dnah7b	T	C	1: 46,402,147 (GRCm39)	L3994P	probably damaging	Het
Dock10	T	C	1: 80,546,461 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,599,212 (GRCm39)	S1856T	probably benign	Het
Ehd2	T	C	7: 15,685,999 (GRCm39)	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,746,367 (GRCm39)		probably null	Het
Exoc5	A	G	14: 49,272,388 (GRCm39)	F342S	probably damaging	Het
Fam186a	T	A	15: 99,842,978 (GRCm39)	T1089S	probably benign	Het
Fanca	T	C	8: 124,043,149 (GRCm39)	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,517,696 (GRCm39)	Y506C	probably damaging	Het
Galntl6	T	C	8: 58,310,565 (GRCm39)	T379A	probably benign	Het
Garin2	T	A	12: 78,757,080 (GRCm39)	N12K	unknown	Het
Gm34768	A	G	2: 11,913,316 (GRCm39)		noncoding transcript	Het
Gps2	A	G	11: 69,805,620 (GRCm39)	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,676,447 (GRCm39)		probably null	Het
Gys1	C	T	7: 45,104,763 (GRCm39)	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,169,651 (GRCm39)		probably benign	Het
Iffo1	T	A	6: 125,129,471 (GRCm39)		probably benign	Het
Ighv1-51	T	C	12: 115,095,177 (GRCm39)		noncoding transcript	Het
Kansl3	T	A	1: 36,384,601 (GRCm39)		probably null	Het
Kdm3a	A	G	6: 71,598,364 (GRCm39)	I174T	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Lair1	T	C	7: 4,032,023 (GRCm39)	D28G	possibly damaging	Het
Lama3	A	G	18: 12,562,944 (GRCm39)	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,025,768 (GRCm39)	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,044,161 (GRCm39)		probably null	Het
Man1a	A	G	10: 53,809,586 (GRCm39)		probably benign	Het
Mcam	A	C	9: 44,047,925 (GRCm39)	S57R	probably damaging	Het
Mrgprf	C	A	7: 144,861,168 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,999,529 (GRCm39)	*499Q	probably null	Het
Nmbr	C	A	10: 14,642,554 (GRCm39)	R38S	probably benign	Het
Or12e7	T	G	2: 87,288,381 (GRCm39)	F291V	probably benign	Het
Or51a25	C	A	7: 102,373,467 (GRCm39)	V77L	probably benign	Het
Or5h23	T	C	16: 58,906,666 (GRCm39)	Y60C	probably damaging	Het
P3h1	C	T	4: 119,105,424 (GRCm39)	H741Y	probably benign	Het
Parp4	A	T	14: 56,861,489 (GRCm39)	M941L	probably benign	Het
Phaf1	T	C	8: 105,961,171 (GRCm39)	F69L	probably damaging	Het
Pik3c3	C	T	18: 30,431,633 (GRCm39)	T331M	probably damaging	Het
Prkg1	T	C	19: 30,701,556 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,112,233 (GRCm39)	V103D	probably benign	Het
Ranbp1	T	C	16: 18,063,092 (GRCm39)	T95A	probably damaging	Het
Ric1	G	A	19: 29,548,171 (GRCm39)	D280N	probably damaging	Het
Scd1	A	G	19: 44,388,579 (GRCm39)		probably null	Het
Serpinb3c	A	G	1: 107,204,653 (GRCm39)	I31T	probably benign	Het
Slc7a11	T	A	3: 50,333,593 (GRCm39)	Y386F	probably benign	Het
Smtnl2	A	T	11: 72,291,279 (GRCm39)		probably null	Het
Snx2	G	T	18: 53,327,534 (GRCm39)	E87*	probably null	Het
Tars2	A	C	3: 95,655,464 (GRCm39)		probably null	Het
Tax1bp1	C	A	6: 52,706,317 (GRCm39)	T106N	probably damaging	Het
Tcof1	A	G	18: 60,966,490 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,681,543 (GRCm39)	E2680*	probably null	Het
Thap7	C	T	16: 17,348,611 (GRCm39)		probably benign	Het
Thoc6	T	A	17: 23,889,842 (GRCm39)	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,454,294 (GRCm39)	Y18*	probably null	Het
Trav6-1	A	C	14: 52,876,254 (GRCm39)	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,128,989 (GRCm39)	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,320,838 (GRCm39)	M122K	probably benign	Het
Vps13a	T	C	19: 16,596,392 (GRCm39)		probably null	Het
Zdhhc24	T	G	19: 4,933,778 (GRCm39)	D278E	probably benign	Het
Zfp316	T	C	5: 143,250,427 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,548,878 (GRCm39)	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,284,103 (GRCm39)	N96K	possibly 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
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'- CGGGTGCTCAGTTTCATCAC -3'
(R):5'- TCTCAAGTGTCTCCTAAGTTGAAC -3'

Sequencing Primer
(F):5'- AGTTTCATCACTGTAAGGCTGC -3'
(R):5'- TCATCCAGTGTCCCAAAG -3'

Posted On

2017-03-31