Incidental Mutation 'R2035:Ess2'
ID 224547
Institutional Source Beutler Lab
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
MMRRC Submission 040042-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R2035 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 17727950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156085 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold O70279
Predicted Effect probably null
Transcript: ENSMUST00000003621
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527

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 null
Transcript: ENSMUST00000003621
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527

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 null
Transcript: ENSMUST00000232423
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,760,761 (GRCm39) *1273Q probably null Het
Aars2 A G 17: 45,825,727 (GRCm39) I348V possibly damaging Het
Abca8b G A 11: 109,847,932 (GRCm39) R788C possibly damaging Het
Abhd15 T C 11: 77,406,536 (GRCm39) L171P probably damaging Het
Abi3bp A T 16: 56,480,581 (GRCm39) H686L probably benign Het
Acsl1 A G 8: 46,981,621 (GRCm39) Y456C probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l T A 3: 88,973,624 (GRCm39) V2561D probably benign Het
B3galnt2 T A 13: 14,140,909 (GRCm39) F44I probably benign Het
Bicra A T 7: 15,730,338 (GRCm39) H24Q possibly damaging Het
Ccdc163 T C 4: 116,568,530 (GRCm39) S195P probably damaging Het
Cd163 A T 6: 124,297,588 (GRCm39) K911N probably damaging Het
Clcn3 A T 8: 61,387,632 (GRCm39) S179T probably damaging Het
Dctn4 T A 18: 60,671,489 (GRCm39) D120E possibly damaging Het
Dnali1 C T 4: 124,952,903 (GRCm39) V207M probably damaging Het
Dnhd1 A G 7: 105,354,128 (GRCm39) Q3036R probably damaging Het
Dst G A 1: 34,310,494 (GRCm39) R4098H probably damaging Het
Eml5 A T 12: 98,760,525 (GRCm39) N1741K probably benign Het
Enah G A 1: 181,749,537 (GRCm39) P415L probably damaging Het
Entr1 T A 2: 26,273,639 (GRCm39) S374C probably damaging Het
F8 ATCTCTCTC ATCTCTC X: 74,366,604 (GRCm39) probably null Het
Gm4841 T G 18: 60,402,929 (GRCm39) Y388S probably benign Het
Grin3a T C 4: 49,771,336 (GRCm39) T479A probably damaging Het
Gucy2e C A 11: 69,118,358 (GRCm39) V743L probably benign Het
Il33 T A 19: 29,932,037 (GRCm39) N143K probably damaging Het
Ism1 T A 2: 139,599,075 (GRCm39) S349R probably damaging Het
Itgb2 T A 10: 77,383,033 (GRCm39) D134E probably damaging Het
Kcnk1 A C 8: 126,752,108 (GRCm39) N238T possibly damaging Het
Kcnu1 G T 8: 26,386,721 (GRCm39) V535L probably benign Het
Muc19 T A 15: 91,776,599 (GRCm39) noncoding transcript Het
Mycbp2 A T 14: 103,497,675 (GRCm39) Y966N probably damaging Het
Myo19 A T 11: 84,788,434 (GRCm39) M349L probably benign Het
Narf G A 11: 121,129,326 (GRCm39) A37T probably benign Het
Ncapd2 T C 6: 125,161,491 (GRCm39) N208D probably benign Het
Nr1i2 A G 16: 38,071,488 (GRCm39) probably null Het
Opn5 A G 17: 42,918,052 (GRCm39) I70T probably damaging Het
Or52e19 T A 7: 102,959,463 (GRCm39) H178Q probably damaging Het
Or7a38 T C 10: 78,753,421 (GRCm39) V249A possibly damaging Het
Pkn2 G T 3: 142,526,348 (GRCm39) P410T probably damaging Het
Pla2r1 T C 2: 60,253,080 (GRCm39) N1337S probably damaging Het
Prkd3 A T 17: 79,282,802 (GRCm39) probably null Het
Pum2 T A 12: 8,778,638 (GRCm39) Y429* probably null Het
Resf1 G A 6: 149,230,724 (GRCm39) V1257I possibly damaging Het
Rttn T A 18: 89,038,340 (GRCm39) V812E probably damaging Het
Rufy2 T A 10: 62,842,526 (GRCm39) L483H probably damaging Het
Slc35a3 T A 3: 116,480,972 (GRCm39) Q97L probably damaging Het
St18 A T 1: 6,872,552 (GRCm39) M96L probably benign Het
Strc G A 2: 121,205,415 (GRCm39) A905V probably damaging Het
Syne3 T C 12: 104,924,386 (GRCm39) M338V probably benign Het
Syngr2 A G 11: 117,704,186 (GRCm39) D187G probably benign Het
Tas2r109 A C 6: 132,957,423 (GRCm39) I169R probably benign Het
Tbc1d22a T A 15: 86,275,266 (GRCm39) probably null Het
Thbs1 T A 2: 117,948,821 (GRCm39) probably null Het
Them6 C A 15: 74,593,524 (GRCm39) D127E probably damaging Het
Tmem132d T C 5: 127,869,522 (GRCm39) D604G probably damaging Het
Tnni1 A G 1: 135,733,330 (GRCm39) T51A probably benign Het
Topors T C 4: 40,262,879 (GRCm39) N135S probably damaging Het
Unc80 A T 1: 66,645,752 (GRCm39) D1476V probably damaging Het
Vmn1r17 A G 6: 57,337,573 (GRCm39) V264A probably benign Het
Vmn1r193 T A 13: 22,403,732 (GRCm39) T87S probably benign Het
Vmn1r202 C A 13: 22,685,772 (GRCm39) R215L probably damaging Het
Vmn2r24 A T 6: 123,793,019 (GRCm39) N782I probably damaging Het
Vmn2r53 A G 7: 12,332,438 (GRCm39) F404L possibly damaging Het
Xpo4 A T 14: 57,823,383 (GRCm39) C1036S possibly damaging Het
Yae1d1 T C 13: 18,164,306 (GRCm39) N104D probably benign Het
Zan C A 5: 137,442,209 (GRCm39) R1901L unknown Het
Zbtb9 G A 17: 27,193,897 (GRCm39) R434H probably damaging Het
Zdhhc23 A C 16: 43,793,871 (GRCm39) C268G probably damaging 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
R1633:Ess2 UTSW 16 17,727,831 (GRCm39) missense probably benign 0.03
R1891:Ess2 UTSW 16 17,725,644 (GRCm39) nonsense 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'- TCACCATCATCTAGGTCTCGGC -3'
(R):5'- TCCCAGATGACAACTCTGGC -3'

Sequencing Primer
(F):5'- TCATCTAGGTCTCGGCCCTGG -3'
(R):5'- AGATGACAACTCTGGCCTTTG -3'
Posted On 2014-08-25