Mutagenetix > Incidental Mutation

Incidental Mutation 'R7126:Ess2'

552352

Institutional Source

Beutler Lab

Gene Symbol

Ess2

Ensembl Gene

ENSMUSG00000003527

Gene Name

ess-2 splicing factor

Synonyms

Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el

MMRRC Submission

045213-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R7126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17718573-17729212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 17729154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

Ref Sequence

ENSEMBL: ENSMUSP00000003621 (fasta)

Gene Model

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

AlphaFold

O70279

Predicted Effect

unknown
Transcript: ENSMUST00000003621
AA Change: T6A

SMART Domains

Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: T6A

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

unknown
Transcript: ENSMUST00000232423
AA Change: T6A

Predicted Effect

probably benign
Transcript: ENSMUST00000232493

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,535,988 (GRCm39)	C85R	unknown	Het
3110082I17Rik	G	T	5: 139,347,005 (GRCm39)	H153Q	unknown	Het
Acadsb	T	C	7: 131,039,177 (GRCm39)	I316T	probably benign	Het
Acsbg2	A	T	17: 57,153,633 (GRCm39)	N523K	probably damaging	Het
Ahnak	C	T	19: 8,979,723 (GRCm39)	P336S	possibly damaging	Het
Ankdd1b	A	G	13: 96,566,370 (GRCm39)	V277A	possibly damaging	Het
Aspm	A	G	1: 139,408,541 (GRCm39)	Y2476C	probably benign	Het
Atg13	G	A	2: 91,510,765 (GRCm39)	R321W	probably damaging	Het
B4galt2	A	G	4: 117,734,735 (GRCm39)	F211S	probably damaging	Het
Baiap3	T	A	17: 25,464,119 (GRCm39)	T913S	possibly damaging	Het
Btbd18	A	T	2: 84,496,546 (GRCm39)	E61D	possibly damaging	Het
Btnl9	G	T	11: 49,060,082 (GRCm39)	S555R	probably damaging	Het
Cbs	T	A	17: 31,838,113 (GRCm39)	M379L	probably benign	Het
Chd9	G	A	8: 91,741,853 (GRCm39)	G1614D	unknown	Het
Cmya5	G	A	13: 93,226,448 (GRCm39)	P2880L	probably benign	Het
Cnnm1	T	C	19: 43,473,292 (GRCm39)	S729P	probably damaging	Het
Cox16	T	A	12: 81,518,940 (GRCm39)	E70D	probably benign	Het
Cp	A	G	3: 20,034,788 (GRCm39)	H699R	probably damaging	Het
Cyp2d26	T	C	15: 82,678,209 (GRCm39)	N56D	probably benign	Het
Dennd4c	A	G	4: 86,725,667 (GRCm39)	Y707C	probably damaging	Het
Dnah5	A	T	15: 28,349,983 (GRCm39)	E2555D	probably benign	Het
Filip1	A	G	9: 79,805,577 (GRCm39)	L59P	possibly damaging	Het
Fsip2	A	G	2: 82,813,485 (GRCm39)	N3268S	possibly damaging	Het
Gja10	A	T	4: 32,601,014 (GRCm39)	C457S	probably benign	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Gm47959	G	A	1: 82,978,503 (GRCm39)	G57S	unknown	Het
Grep1	C	T	17: 23,939,538 (GRCm39)	V8I	probably benign	Het
Grid2	T	A	6: 64,053,794 (GRCm39)	V331E	probably damaging	Het
Inpp4a	C	A	1: 37,413,353 (GRCm39)	H123Q	probably benign	Het
Ireb2	T	A	9: 54,793,851 (GRCm39)	Y260*	probably null	Het
Itpr2	G	A	6: 146,259,294 (GRCm39)	Q628*	probably null	Het
Kbtbd11	G	A	8: 15,078,759 (GRCm39)	A453T	probably damaging	Het
Kcnj2	A	G	11: 110,963,648 (GRCm39)	T347A	probably damaging	Het
Kif19b	A	T	5: 140,477,073 (GRCm39)	D874V	probably benign	Het
Klhl12	A	G	1: 134,395,521 (GRCm39)	H161R	probably damaging	Het
Krt78	T	C	15: 101,856,871 (GRCm39)	E412G	probably damaging	Het
Lzic	A	G	4: 149,573,132 (GRCm39)	I95V	probably damaging	Het
Mme	C	T	3: 63,276,322 (GRCm39)	P700S	probably damaging	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Mthfd2	A	G	6: 83,290,472 (GRCm39)	V53A	probably benign	Het
Mtus1	A	G	8: 41,468,439 (GRCm39)	L210P	probably damaging	Het
Muc16	T	C	9: 18,552,512 (GRCm39)	T4594A	probably benign	Het
Niban1	T	A	1: 151,590,318 (GRCm39)	C537*	probably null	Het
Olfm5	A	T	7: 103,809,187 (GRCm39)	C208S	probably damaging	Het
Or10q1	T	A	19: 13,726,887 (GRCm39)	I139N	possibly damaging	Het
Or2ad1	A	T	13: 21,326,888 (GRCm39)	L113H	probably damaging	Het
Or7a39	T	C	10: 78,715,411 (GRCm39)	V135A	possibly damaging	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Plin1	T	C	7: 79,376,412 (GRCm39)		probably null	Het
Prl7a1	C	T	13: 27,826,402 (GRCm39)		probably null	Het
Ptpn23	T	C	9: 110,217,812 (GRCm39)	D711G	probably benign	Het
Rgs22	A	T	15: 36,103,954 (GRCm39)	I169N	probably damaging	Het
Scn7a	G	T	2: 66,587,630 (GRCm39)	H24Q	possibly damaging	Het
Scrt2	C	T	2: 151,935,006 (GRCm39)	P53L	probably damaging	Het
Sh3rf1	A	T	8: 61,802,458 (GRCm39)	I264L	probably benign	Het
Smarcd1	A	T	15: 99,607,206 (GRCm39)	D393V	probably damaging	Het
Spag17	T	G	3: 100,008,751 (GRCm39)	N1960K	probably benign	Het
Ssb	A	G	2: 69,696,845 (GRCm39)	T62A	possibly damaging	Het
Taar7b	T	A	10: 23,875,960 (GRCm39)	Y42N	possibly damaging	Het
Terf1	A	T	1: 15,883,363 (GRCm39)	I159L	probably benign	Het
Tff3	T	G	17: 31,346,410 (GRCm39)	N54T	probably benign	Het
Top2a	A	G	11: 98,905,818 (GRCm39)	L285P	probably benign	Het
Trim24	A	G	6: 37,896,392 (GRCm39)	Y283C	probably damaging	Het
Trim58	T	C	11: 58,531,405 (GRCm39)	C38R	probably damaging	Het
Trpa1	T	A	1: 14,960,648 (GRCm39)	T647S	probably benign	Het
Trpm4	A	T	7: 44,960,133 (GRCm39)		probably null	Het
Trpm6	C	T	19: 18,831,397 (GRCm39)	Q1421*	probably null	Het
Ubr2	A	T	17: 47,284,982 (GRCm39)		probably null	Het
Vmn1r46	T	G	6: 89,953,976 (GRCm39)	I275S	possibly damaging	Het
Vmn2r54	A	G	7: 12,366,088 (GRCm39)	F282S	possibly damaging	Het
Vmn2r57	A	G	7: 41,049,218 (GRCm39)	S844P	possibly damaging	Het
Vps13a	A	C	19: 16,688,243 (GRCm39)	C855G	probably benign	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	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
R7804:Ess2	UTSW	16	17,729,031 (GRCm39)	missense	probably damaging	0.96
R8479:Ess2	UTSW	16	17,728,805 (GRCm39)	splice site	probably null
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'- AGTTGTTCCACTTCCAAGGG -3'
(R):5'- TAGATGGGCATGAGCAACGC -3'

Sequencing Primer
(F):5'- CTGAGAGTGCCAGGACCAG -3'
(R):5'- CATGAGCAACGCGGGTG -3'

Posted On

2019-05-15