Mutagenetix > Incidental Mutation

Incidental Mutation 'R9728:Esco2'

731178

Institutional Source

Beutler Lab

Gene Symbol

Esco2

Ensembl Gene

ENSMUSG00000022034

Gene Name

establishment of sister chromatid cohesion N-acetyltransferase 2

Synonyms

2410004I17Rik, D030072L07Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9728 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66056476-66071418 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66069069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 80 (F80L)

Ref Sequence

ENSEMBL: ENSMUSP00000022613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022613] [ENSMUST00000225853]

AlphaFold

Q8CIB9

Predicted Effect

probably benign
Transcript: ENSMUST00000022613
AA Change: F80L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022613
Gene: ENSMUSG00000022034
AA Change: F80L

Domain	Start	End	E-Value	Type
low complexity region	139	156	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:zf-C2H2_3	371	410	1.6e-18	PFAM
Pfam:Acetyltransf_13	520	588	2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225853

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete embryonic lethality before implantation associated with impaired chromosome cohesion and abnormal mitosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disc1	A	T	8: 125,959,795 (GRCm39)	E769V	probably null	Het
Egln1	G	A	8: 125,675,093 (GRCm39)	T234I	possibly damaging	Het
Frem2	C	T	3: 53,564,052 (GRCm39)	A152T	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gm19410	A	G	8: 36,247,594 (GRCm39)	T469A	possibly damaging	Het
Gm4884	A	T	7: 40,692,689 (GRCm39)	Q219H	probably benign	Het
Gpr160	A	G	3: 30,950,144 (GRCm39)	N72S	probably damaging	Het
Hps3	C	A	3: 20,065,128 (GRCm39)	A771S	probably benign	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Kcna10	A	T	3: 107,101,513 (GRCm39)	N48I	possibly damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Knop1	C	T	7: 118,451,840 (GRCm39)	S293N		Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Or14a259	A	G	7: 86,012,771 (GRCm39)	L258P	probably damaging	Het
Or5m13	A	G	2: 85,748,887 (GRCm39)	N206S	possibly damaging	Het
Or8u8	A	T	2: 86,011,636 (GRCm39)	M273K	possibly damaging	Het
Pde11a	C	A	2: 76,121,608 (GRCm39)	L324F	probably damaging	Het
Pprc1	T	C	19: 46,060,639 (GRCm39)	V1568A	probably damaging	Het
Ralgps1	C	T	2: 33,163,626 (GRCm39)	V144M	probably damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Sapcd2	C	A	2: 25,262,669 (GRCm39)	A76D	probably damaging	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Sema4a	T	C	3: 88,348,187 (GRCm39)		probably null	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc23a2	G	T	2: 131,900,130 (GRCm39)	N568K	probably damaging	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Sun5	T	A	2: 153,709,466 (GRCm39)	M75L	probably benign	Het
Syde1	AGCCCGAAAACACGGGGCTCTGC	AGC	10: 78,424,638 (GRCm39)		probably null	Het
Synrg	A	G	11: 83,915,117 (GRCm39)	Y963C	probably damaging	Het
Tdpoz6	A	T	3: 93,599,807 (GRCm39)	C187*	probably null	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trrap	G	T	5: 144,726,193 (GRCm39)	D381Y	probably benign	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Unc45a	G	T	7: 79,978,448 (GRCm39)	L667I	probably benign	Het
Vav1	A	G	17: 57,612,459 (GRCm39)	D570G	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vmn2r112	G	A	17: 22,824,108 (GRCm39)	M454I	probably damaging	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp13	C	T	17: 23,799,788 (GRCm39)	R107K	possibly damaging	Het
Zfp318	G	A	17: 46,707,713 (GRCm39)	R257Q	probably benign	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	Het

Other mutations in Esco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Esco2	APN	14	66,063,977 (GRCm39)	missense	probably benign	0.00
IGL01613:Esco2	APN	14	66,064,044 (GRCm39)	missense	possibly damaging	0.75
IGL02148:Esco2	APN	14	66,064,044 (GRCm39)	missense	probably benign	0.00
IGL03039:Esco2	APN	14	66,068,867 (GRCm39)	missense	probably damaging	0.97
PIT4508001:Esco2	UTSW	14	66,068,914 (GRCm39)	missense	probably damaging	0.99
R0400:Esco2	UTSW	14	66,069,155 (GRCm39)	missense	possibly damaging	0.73
R0894:Esco2	UTSW	14	66,064,726 (GRCm39)	missense	probably benign	0.35
R1778:Esco2	UTSW	14	66,068,711 (GRCm39)	missense	possibly damaging	0.47
R1795:Esco2	UTSW	14	66,064,726 (GRCm39)	missense	probably benign	0.35
R1962:Esco2	UTSW	14	66,068,982 (GRCm39)	missense	probably damaging	1.00
R2325:Esco2	UTSW	14	66,064,027 (GRCm39)	splice site	probably null
R2357:Esco2	UTSW	14	66,064,000 (GRCm39)	missense	probably benign	0.32
R2369:Esco2	UTSW	14	66,059,189 (GRCm39)	missense	probably damaging	1.00
R4659:Esco2	UTSW	14	66,064,035 (GRCm39)	missense	possibly damaging	0.92
R5648:Esco2	UTSW	14	66,068,641 (GRCm39)	missense	probably damaging	1.00
R5873:Esco2	UTSW	14	66,061,640 (GRCm39)	missense	probably benign	0.00
R6782:Esco2	UTSW	14	66,057,465 (GRCm39)	missense	probably benign	0.00
R6877:Esco2	UTSW	14	66,068,494 (GRCm39)	missense	probably benign	0.01
R7116:Esco2	UTSW	14	66,064,006 (GRCm39)	missense	probably damaging	1.00
R7572:Esco2	UTSW	14	66,068,641 (GRCm39)	missense	probably damaging	0.97
R7645:Esco2	UTSW	14	66,064,630 (GRCm39)	missense	probably benign	0.08
R8055:Esco2	UTSW	14	66,069,168 (GRCm39)	missense	probably benign	0.20
R8072:Esco2	UTSW	14	66,070,130 (GRCm39)	missense	probably benign
R8483:Esco2	UTSW	14	66,069,118 (GRCm39)	missense	probably benign	0.00
R9244:Esco2	UTSW	14	66,059,088 (GRCm39)	missense	probably damaging	1.00
R9478:Esco2	UTSW	14	66,068,657 (GRCm39)	nonsense	probably null
R9498:Esco2	UTSW	14	66,068,752 (GRCm39)	missense	probably benign	0.00
Z1177:Esco2	UTSW	14	66,062,385 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGAATATTTTCTGTCACACTGGG -3'
(R):5'- GTAGGGAGAAGTTTACTAGTGGATC -3'

Sequencing Primer
(F):5'- CACACTGGGAATAGGTTTATCTCCAC -3'
(R):5'- CAAACTTACCAATGGACTTTCTTTTC -3'

Posted On

2022-10-06