Incidental Mutation 'R1633:Ess2'
ID 172946
Institutional Source Beutler Lab
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
MMRRC Submission 039670-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R1633 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17727831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold O70279
Predicted Effect probably benign
Transcript: ENSMUST00000003621
AA Change: V116A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: V116A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000231921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232366
Predicted Effect probably benign
Transcript: ENSMUST00000232423
AA Change: V116A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 83.9%
Validation Efficiency 94% (68/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C T 1: 127,681,592 (GRCm39) A185V probably benign Het
Acsl6 T C 11: 54,219,224 (GRCm39) probably benign Het
Arel1 A G 12: 84,973,057 (GRCm39) F580S probably damaging Het
Arhgef19 T C 4: 140,965,871 (GRCm39) probably benign Het
Bpifb3 T A 2: 153,764,504 (GRCm39) L132Q probably damaging Het
Cacna2d1 T A 5: 16,525,114 (GRCm39) D516E probably damaging Het
Ccar1 T C 10: 62,586,793 (GRCm39) R882G unknown Het
Cep162 T C 9: 87,085,736 (GRCm39) E1196G probably benign Het
Cpt1b T C 15: 89,303,018 (GRCm39) T649A probably damaging Het
Cttnbp2 A T 6: 18,435,166 (GRCm39) S231T probably damaging Het
Dock8 A G 19: 25,028,927 (GRCm39) T44A probably benign Het
Edrf1 T C 7: 133,253,869 (GRCm39) S536P probably damaging Het
Eif5 T A 12: 111,506,721 (GRCm39) N104K probably damaging Het
Enpp3 T C 10: 24,671,680 (GRCm39) Y438C probably damaging Het
Galnt4 T C 10: 98,945,814 (GRCm39) V513A possibly damaging Het
Gdpd5 T C 7: 99,097,720 (GRCm39) I172T probably benign Het
Ggt7 C T 2: 155,344,608 (GRCm39) G245D probably damaging Het
Gm5884 A T 6: 128,623,028 (GRCm39) noncoding transcript Het
Herc2 G A 7: 55,879,117 (GRCm39) G4669R probably null Het
Hydin T A 8: 111,233,614 (GRCm39) D1817E probably benign Het
Igf2r A C 17: 12,945,196 (GRCm39) N359K probably benign Het
Itgb4 T C 11: 115,898,586 (GRCm39) F1722L probably damaging Het
Itih3 T A 14: 30,639,355 (GRCm39) E406V possibly damaging Het
Lamc2 A T 1: 153,017,444 (GRCm39) C514* probably null Het
Mepe G T 5: 104,485,540 (GRCm39) V227F probably benign Het
Nadk C T 4: 155,661,642 (GRCm39) T56I probably damaging Het
Nedd4 G A 9: 72,578,539 (GRCm39) V84I possibly damaging Het
Nipal3 C A 4: 135,174,659 (GRCm39) R364L probably benign Het
Nkx2-9 T C 12: 56,659,766 (GRCm39) R27G probably benign Het
Noc2l T A 4: 156,329,750 (GRCm39) S600T probably benign Het
Or1l4b T A 2: 37,036,983 (GRCm39) I253N probably damaging Het
Or1o3 T A 17: 37,574,553 (GRCm39) M1L probably benign Het
Or2c1 A C 16: 3,657,396 (GRCm39) K186N probably damaging Het
Pax6 A T 2: 105,522,063 (GRCm39) E240V probably damaging Het
Pdilt T G 7: 119,087,217 (GRCm39) T478P probably damaging Het
Phldb1 T A 9: 44,629,619 (GRCm39) I25F probably damaging Het
Rad50 C T 11: 53,583,686 (GRCm39) R365Q probably benign Het
Rdh10 A G 1: 16,198,420 (GRCm39) E186G possibly damaging Het
Rdh12 A T 12: 79,265,498 (GRCm39) E224V probably damaging Het
Reck T C 4: 43,922,964 (GRCm39) V413A possibly damaging Het
Scn8a A G 15: 100,927,696 (GRCm39) I1392V probably benign Het
Simc1 G A 13: 54,673,044 (GRCm39) G464D probably benign Het
Srf A T 17: 46,862,534 (GRCm39) V318E probably damaging Het
Stab1 T C 14: 30,872,337 (GRCm39) probably null Het
Stk3 T C 15: 34,959,206 (GRCm39) D322G probably damaging Het
Stxbp4 A G 11: 90,430,986 (GRCm39) probably benign Het
Sult2a1 A G 7: 13,535,351 (GRCm39) I234T probably benign Het
Syne1 A G 10: 5,299,388 (GRCm39) F956L probably damaging Het
Tasor2 A T 13: 3,631,771 (GRCm39) I910N possibly damaging Het
Thsd7a G T 6: 12,471,103 (GRCm39) S505* probably null Het
Tmem63a T A 1: 180,776,391 (GRCm39) V67E probably damaging Het
Tram2 A T 1: 21,074,146 (GRCm39) V264E probably damaging Het
Trpv5 A T 6: 41,652,854 (GRCm39) C106* probably null Het
Tspyl5 T A 15: 33,686,791 (GRCm39) K385* probably null Het
Vezt T A 10: 93,820,138 (GRCm39) Q409L probably damaging Het
Vmn2r79 T C 7: 86,687,042 (GRCm39) C808R possibly damaging Het
Wdfy3 A C 5: 102,129,414 (GRCm39) V4G probably damaging Het
Wdr95 A T 5: 149,516,637 (GRCm39) I493F probably damaging Het
Zfhx4 A T 3: 5,465,473 (GRCm39) N1877I probably damaging Het
Zfp180 A G 7: 23,804,226 (GRCm39) D215G probably benign Het
Zfp442 A T 2: 150,250,260 (GRCm39) Y490* probably null Het
Zfp804b A G 5: 7,229,513 (GRCm39) probably benign Het
Other mutations in Ess2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCTCACAAGGCTGGAACACTGAAC -3'
(R):5'- CATGCGCCAGATTGCCATCAAG -3'

Sequencing Primer
(F):5'- acgcctttaatcccagcac -3'
(R):5'- AAGTTTGGCTCTGCCCTG -3'
Posted On 2014-04-24