Mutagenetix > Incidental Mutation

Incidental Mutation 'R8479:Ess2'

660819

Institutional Source

Beutler Lab

Gene Symbol

Ess2

Ensembl Gene

ENSMUSG00000003527

Gene Name

ess-2 splicing factor

Synonyms

Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el

MMRRC Submission

067923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8479 (G1)

Quality Score

48.0072

Status

Validated

Chromosome

Chromosomal Location

17718573-17729212 bp(-) (GRCm39)

Type of Mutation

splice site (221 bp from exon)

DNA Base Change (assembly)

T to C at 17728805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]

AlphaFold

O70279

Predicted Effect

probably null
Transcript: ENSMUST00000003621

SMART Domains

Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527

Domain	Start	End	E-Value	Type
low complexity region	7	34	N/A	INTRINSIC
Pfam:Es2	37	405	1.9e-76	PFAM
low complexity region	434	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000012279

SMART Domains

Protein: ENSMUSP00000012279
Gene: ENSMUSG00000022738

Domain	Start	End	E-Value	Type
low complexity region	59	85	N/A	INTRINSIC
low complexity region	95	119	N/A	INTRINSIC
HOX	136	198	2.9e-23	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000232423

Predicted Effect

probably benign
Transcript: ENSMUST00000232493

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (52/52)

MGI Phenotype

FUNCTION: The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	G	A	15: 83,112,061 (GRCm39)	H241Y	probably benign	Het
Afg3l2	C	T	18: 67,581,986 (GRCm39)	G29D	probably benign	Het
Ano2	T	C	6: 125,689,123 (GRCm39)	S52P	possibly damaging	Het
Atp11a	A	T	8: 12,892,932 (GRCm39)	E641V	possibly damaging	Het
Atp6v1d	T	C	12: 78,896,520 (GRCm39)	T116A	probably benign	Het
Cacna2d2	T	C	9: 107,403,596 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,574,628 (GRCm39)	Y537*	probably null	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cntnap2	C	T	6: 46,736,707 (GRCm39)	A711V	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Crhbp	A	G	13: 95,578,632 (GRCm39)	V163A	possibly damaging	Het
Crmp1	C	A	5: 37,441,502 (GRCm39)	P414Q	possibly damaging	Het
Cse1l	G	A	2: 166,763,893 (GRCm39)	E78K	possibly damaging	Het
Ctnna2	A	G	6: 77,735,573 (GRCm39)	V35A	probably damaging	Het
Ddx1	T	A	12: 13,270,749 (GRCm39)	N654I	probably damaging	Het
Dido1	A	T	2: 180,315,022 (GRCm39)		probably null	Het
Dmtf1	C	T	5: 9,170,428 (GRCm39)	V630I	probably damaging	Het
Ercc6	T	C	14: 32,248,363 (GRCm39)	S305P	probably benign	Het
Ercc6l2	T	A	13: 63,972,629 (GRCm39)	S37T	possibly damaging	Het
Fnip2	A	G	3: 79,419,862 (GRCm39)	M138T	probably damaging	Het
Galnt9	T	C	5: 110,692,617 (GRCm39)	V17A	probably benign	Het
Gm7324	T	C	14: 43,952,220 (GRCm39)	S288P	probably benign	Het
Gucy2e	G	A	11: 69,123,789 (GRCm39)	A370V	probably benign	Het
H2-T13	G	A	17: 36,395,111 (GRCm39)	A2V	probably damaging	Het
Ift57	T	C	16: 49,522,263 (GRCm39)	F2L	probably damaging	Het
Ipo7	G	A	7: 109,638,452 (GRCm39)	V240I	probably benign	Het
Lrrc4c	A	G	2: 97,459,977 (GRCm39)	Y201C	probably damaging	Het
Ly6g2	A	G	15: 75,089,626 (GRCm39)	T45A	probably damaging	Het
Mapkap1	A	T	2: 34,471,302 (GRCm39)	S389C	probably damaging	Het
Met	G	T	6: 17,491,746 (GRCm39)		probably null	Het
Misp	T	C	10: 79,663,750 (GRCm39)	F575L	possibly damaging	Het
Mtmr11	T	C	3: 96,071,051 (GRCm39)	L136P	probably damaging	Het
Muc4	C	T	16: 32,574,799 (GRCm39)	T1128M	possibly damaging	Het
Nfyc	A	T	4: 120,626,089 (GRCm39)	V70E	probably damaging	Het
Nphp4	T	C	4: 152,608,747 (GRCm39)	S452P	probably benign	Het
Oasl2	T	A	5: 115,035,852 (GRCm39)	F43I	probably damaging	Het
Or10ak11	A	G	4: 118,687,212 (GRCm39)	C141R	probably damaging	Het
Or5g25	A	G	2: 85,478,447 (GRCm39)	S73P	probably damaging	Het
Pros1	G	T	16: 62,728,102 (GRCm39)	G269W	probably damaging	Het
Rif1	A	C	2: 52,002,563 (GRCm39)	S2006R	possibly damaging	Het
Ror2	G	T	13: 53,271,400 (GRCm39)	N306K	probably damaging	Het
Rragd	C	T	4: 33,018,734 (GRCm39)	A379V	probably benign	Het
Slc10a2	C	T	8: 5,148,443 (GRCm39)		probably null	Het
Susd3	C	T	13: 49,390,952 (GRCm39)	G113S	probably benign	Het
Tbc1d19	T	A	5: 54,041,031 (GRCm39)	M371K	possibly damaging	Het
Tnn	C	A	1: 159,950,397 (GRCm39)	R736S	probably benign	Het
Trio	T	C	15: 27,901,286 (GRCm39)	T323A	probably benign	Het
Ubqln1	G	A	13: 58,339,653 (GRCm39)	P324S	probably benign	Het
Uspl1	T	C	5: 149,152,004 (GRCm39)	L1068P	probably damaging	Het
Vmn2r86	A	T	10: 130,282,735 (GRCm39)	I627N	probably damaging	Het
Wdr35	C	A	12: 9,035,985 (GRCm39)	T252K	probably benign	Het
Zfp62	T	C	11: 49,107,319 (GRCm39)	I470T	probably damaging	Het

Other mutations in Ess2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Ess2	APN	16	17,720,796 (GRCm39)	missense	probably damaging	1.00
IGL02279:Ess2	APN	16	17,720,775 (GRCm39)	missense	possibly damaging	0.95
R0227:Ess2	UTSW	16	17,720,135 (GRCm39)	missense	probably damaging	0.97
R0316:Ess2	UTSW	16	17,727,958 (GRCm39)	missense	probably benign	0.06
R0669:Ess2	UTSW	16	17,725,419 (GRCm39)	missense	probably damaging	1.00
R0880:Ess2	UTSW	16	17,729,051 (GRCm39)	missense	probably damaging	0.96
R1230:Ess2	UTSW	16	17,727,814 (GRCm39)	missense	probably benign	0.00
R1429:Ess2	UTSW	16	17,720,069 (GRCm39)	nonsense	probably null
R1633:Ess2	UTSW	16	17,727,831 (GRCm39)	missense	probably benign	0.03
R1891:Ess2	UTSW	16	17,725,644 (GRCm39)	nonsense	probably null
R2035:Ess2	UTSW	16	17,727,950 (GRCm39)	critical splice donor site	probably null
R2267:Ess2	UTSW	16	17,727,859 (GRCm39)	missense	probably damaging	1.00
R7126:Ess2	UTSW	16	17,729,154 (GRCm39)	missense	unknown
R7804:Ess2	UTSW	16	17,729,031 (GRCm39)	missense	probably damaging	0.96
R8826:Ess2	UTSW	16	17,722,954 (GRCm39)	missense	probably damaging	1.00
R9194:Ess2	UTSW	16	17,728,028 (GRCm39)	missense	probably damaging	1.00
R9628:Ess2	UTSW	16	17,720,757 (GRCm39)	missense	probably damaging	0.99
Z1176:Ess2	UTSW	16	17,720,174 (GRCm39)	missense	possibly damaging	0.85
Z1177:Ess2	UTSW	16	17,727,786 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGTCGGTCTGTCCTCCAG -3'
(R):5'- GTACATCGAGGTACCAGCTC -3'

Sequencing Primer
(F):5'- GTCCTCCAGCGTGTTTGCAG -3'
(R):5'- ATCGAGGTACCAGCTCAGTGC -3'

Posted On

2021-03-05