Mutagenetix > Incidental Mutation

Incidental Mutation 'R8826:Ess2'

673496

Institutional Source

Beutler Lab

Gene Symbol

Ess2

Ensembl Gene

ENSMUSG00000003527

Gene Name

ess-2 splicing factor

Synonyms

Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el

MMRRC Submission

068729-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R8826 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17718573-17729212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 17722954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 320 (M320K)

Ref Sequence

ENSEMBL: ENSMUSP00000003621 (fasta)

Gene Model

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

AlphaFold

O70279

Predicted Effect

probably damaging
Transcript: ENSMUST00000003621
AA Change: M320K

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

SMART Domains

Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: M320K

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 damaging
Transcript: ENSMUST00000232423
AA Change: M319K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.8583

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (91/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta1	T	C	8: 124,619,978 (GRCm39)	M121V	probably damaging	Het
AI987944	A	T	7: 41,024,627 (GRCm39)	H120Q	possibly damaging	Het
Aldh9a1	C	G	1: 167,184,119 (GRCm39)	P205A	probably damaging	Het
Ank2	A	T	3: 126,740,951 (GRCm39)	N1644K	unknown	Het
Arfgef2	A	T	2: 166,677,386 (GRCm39)		probably benign	Het
Bpifb4	G	T	2: 153,783,817 (GRCm39)	V54L	probably benign	Het
Cacna1c	T	A	6: 118,711,836 (GRCm39)	M456L		Het
Cbln1	T	C	8: 88,198,420 (GRCm39)	N95S	probably benign	Het
Ccl11	G	T	11: 81,953,044 (GRCm39)	R67S	possibly damaging	Het
Cd200	G	A	16: 45,215,157 (GRCm39)	R165C	probably benign	Het
Cd2bp2	A	T	7: 126,793,257 (GRCm39)	M283K	probably damaging	Het
Cd86	G	T	16: 36,435,650 (GRCm39)	L256I	possibly damaging	Het
Ces2f	T	A	8: 105,679,734 (GRCm39)	F409Y	probably benign	Het
Cisd3	A	T	11: 97,579,158 (GRCm39)	Q100L	probably damaging	Het
Cntnap1	C	T	11: 101,077,655 (GRCm39)	R1106C	probably damaging	Het
Col6a2	A	T	10: 76,439,433 (GRCm39)	M777K	probably damaging	Het
Cp	A	G	3: 20,039,739 (GRCm39)	Y852C	probably damaging	Het
Ddx1	T	C	12: 13,277,332 (GRCm39)	E523G	probably damaging	Het
Ddx60	T	A	8: 62,398,990 (GRCm39)	D236E	probably benign	Het
Dnah9	A	T	11: 65,740,742 (GRCm39)	F4148Y	probably benign	Het
Dusp6	G	T	10: 99,099,469 (GRCm39)		probably benign	Het
Eif2a	C	A	3: 58,456,049 (GRCm39)	Y349*	probably null	Het
Enpep	G	A	3: 129,065,067 (GRCm39)	T874I	probably damaging	Het
Eps15	A	G	4: 109,169,505 (GRCm39)	D105G	possibly damaging	Het
Exosc10	G	A	4: 148,653,159 (GRCm39)		probably null	Het
Fam13b	A	T	18: 34,631,070 (GRCm39)	N36K	probably damaging	Het
Fanca	T	C	8: 123,995,209 (GRCm39)	D1431G	probably benign	Het
Fgg	A	G	3: 82,921,625 (GRCm39)	D436G	probably benign	Het
Fip1l1	C	T	5: 74,725,188 (GRCm39)	T251I	probably benign	Het
Galnt2	A	G	8: 125,032,347 (GRCm39)	N104S	probably damaging	Het
Gmip	T	C	8: 70,268,748 (GRCm39)	S458P	possibly damaging	Het
Herc2	A	G	7: 55,756,144 (GRCm39)	D728G	probably benign	Het
Hif3a	A	G	7: 16,788,671 (GRCm39)	L100P	probably damaging	Het
Hmox2	C	G	16: 4,583,866 (GRCm39)	P282R	possibly damaging	Het
Hook1	A	T	4: 95,880,432 (GRCm39)	H90L	probably benign	Het
Igf2bp2	C	A	16: 21,883,866 (GRCm39)	G473C	probably damaging	Het
Ip6k2	T	C	9: 108,675,379 (GRCm39)		probably null	Het
Ipo5	G	T	14: 121,157,366 (GRCm39)	R68L	probably damaging	Het
Kif19b	A	G	5: 140,455,434 (GRCm39)	M347V	probably damaging	Het
Klhdc1	G	T	12: 69,305,392 (GRCm39)	W234L	probably damaging	Het
Krt8	A	G	15: 101,909,870 (GRCm39)	V178A	possibly damaging	Het
Lgi3	T	A	14: 70,768,712 (GRCm39)		probably null	Het
Litaf	T	G	16: 10,784,421 (GRCm39)	N30H	probably benign	Het
Lman2	C	A	13: 55,510,368 (GRCm39)	W12L	unknown	Het
Macf1	A	G	4: 123,276,022 (GRCm39)	L6182P	probably damaging	Het
Magi3	A	T	3: 103,992,662 (GRCm39)	M270K	probably benign	Het
Mapre2	A	T	18: 23,886,888 (GRCm39)		probably benign	Het
Minar1	T	A	9: 89,483,234 (GRCm39)	E721V	probably damaging	Het
Mllt10	T	A	2: 18,167,353 (GRCm39)	V426D	probably benign	Het
Mrgprf	A	G	7: 144,862,046 (GRCm39)	I203V	probably benign	Het
Mrnip	G	A	11: 50,067,688 (GRCm39)	C27Y	probably damaging	Het
Mrpl24	C	T	3: 87,829,701 (GRCm39)	R96*	probably null	Het
Nbas	T	A	12: 13,402,875 (GRCm39)		probably benign	Het
Nipal4	G	A	11: 46,045,470 (GRCm39)	T131M	possibly damaging	Het
Nlrp12	T	C	7: 3,289,621 (GRCm39)	D297G	possibly damaging	Het
Nol6	A	C	4: 41,121,823 (GRCm39)	M237R	probably benign	Het
Olig1	A	G	16: 91,067,027 (GRCm39)	E88G	probably benign	Het
Or1j19	T	A	2: 36,676,855 (GRCm39)	L106*	probably null	Het
Parg	A	G	14: 31,931,175 (GRCm39)	D265G	possibly damaging	Het
Pcdhgb8	A	T	18: 37,895,301 (GRCm39)	I124L	probably damaging	Het
Pign	A	G	1: 105,481,827 (GRCm39)	F822L	probably damaging	Het
Plch2	T	C	4: 155,071,140 (GRCm39)	T1080A	probably benign	Het
Pld4	A	T	12: 112,733,210 (GRCm39)	Y262F	possibly damaging	Het
Ppp1r12b	A	G	1: 134,693,730 (GRCm39)	V977A	probably benign	Het
Ppp6r3	C	T	19: 3,521,984 (GRCm39)	E565K		Het
Psmg2	A	G	18: 67,787,158 (GRCm39)		probably benign	Het
Ptcd3	C	T	6: 71,885,645 (GRCm39)	G27D	probably benign	Het
Retreg2	G	T	1: 75,119,525 (GRCm39)	G7C	unknown	Het
Rlbp1	A	T	7: 79,027,114 (GRCm39)	F182Y	probably benign	Het
Rnf148	G	C	6: 23,654,378 (GRCm39)	S206C	probably benign	Het
Sash1	A	G	10: 8,637,869 (GRCm39)	M1T	probably null	Het
Shank3	A	T	15: 89,433,598 (GRCm39)	T1448S	probably damaging	Het
Sipa1l1	A	G	12: 82,389,207 (GRCm39)	K478E	probably damaging	Het
Slitrk6	A	G	14: 110,988,801 (GRCm39)	I302T	probably benign	Het
Smc1b	A	G	15: 84,950,529 (GRCm39)	V1165A	probably damaging	Het
Sncaip	A	T	18: 53,048,381 (GRCm39)	H939L	probably benign	Het
Stn1	T	C	19: 47,524,709 (GRCm39)	D27G	probably damaging	Het
Sugct	T	G	13: 17,427,180 (GRCm39)		probably null	Het
Tmem259	A	G	10: 79,814,983 (GRCm39)	S214P	probably damaging	Het
Trdv4	G	A	14: 54,312,946 (GRCm39)	G107S	probably damaging	Het
Ttc3	C	T	16: 94,232,829 (GRCm39)	L957F	possibly damaging	Het
Ttn	A	G	2: 76,711,471 (GRCm39)	Y8357H	unknown	Het
Twnk	T	C	19: 44,996,434 (GRCm39)	V289A	probably benign	Het
Umodl1	A	G	17: 31,202,958 (GRCm39)	D437G	possibly damaging	Het
Upf1	T	C	8: 70,790,930 (GRCm39)	T590A	probably benign	Het
Vmn2r63	A	T	7: 42,576,441 (GRCm39)	D457E	probably benign	Het
Wdr82	A	T	9: 106,061,975 (GRCm39)	T213S	probably benign	Het
Zfp267	T	C	3: 36,218,255 (GRCm39)	Y93H	possibly damaging	Het
Zfp672	A	T	11: 58,220,590 (GRCm39)	M3K	unknown	Het
Zfyve26	A	G	12: 79,285,742 (GRCm39)	V2345A	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
R7126:Ess2	UTSW	16	17,729,154 (GRCm39)	missense	unknown
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
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'- ACAGTCCTACCGTAATGCCC -3'
(R):5'- TACAGCCATCTTGCTTTGGGG -3'

Sequencing Primer
(F):5'- CTGCAGAAGTCCAGTGTCTG -3'
(R):5'- GTGCTGCTGTTTTTGAATTTTCCC -3'

Posted On

2021-07-15