Incidental Mutation 'R7804:Ess2'
ID 600692
Institutional Source Beutler Lab
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
MMRRC Submission 045859-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R7804 (G1)
Quality Score 158.009
Status Validated
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17729031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 47 (I47F)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000012279] [ENSMUST00000232423] [ENSMUST00000232493]
AlphaFold O70279
Predicted Effect probably damaging
Transcript: ENSMUST00000003621
AA Change: I47F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: I47F

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 probably damaging
Transcript: ENSMUST00000232423
AA Change: I47F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 95% (55/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTATGTGT GTGTGT 11: 43,478,241 (GRCm39) probably benign Het
Ago4 A T 4: 126,406,423 (GRCm39) C296S probably benign Het
Apbb1 A G 7: 105,215,807 (GRCm39) L401P probably damaging Het
Cacnb2 C A 2: 14,972,848 (GRCm39) P252T probably benign Het
Ctnna2 C T 6: 77,618,357 (GRCm39) V202I probably benign Het
Dapk1 A T 13: 60,873,153 (GRCm39) I352F probably benign Het
Dexi T C 16: 10,360,349 (GRCm39) D69G possibly damaging Het
Dlg5 T C 14: 24,215,388 (GRCm39) E645G possibly damaging Het
Dnah3 A G 7: 119,551,841 (GRCm39) I2826T probably damaging Het
Dnah3 A G 7: 119,610,235 (GRCm39) W1734R probably damaging Het
Dtna A G 18: 23,728,666 (GRCm39) K287R probably damaging Het
Elovl5 A G 9: 77,887,105 (GRCm39) probably null Het
Fam222b C A 11: 78,044,979 (GRCm39) P180Q probably benign Het
Fat3 C T 9: 15,901,888 (GRCm39) V3046I probably benign Het
Fem1a A G 17: 56,565,068 (GRCm39) D387G probably damaging Het
Frmd5 A G 2: 121,422,225 (GRCm39) Y33H probably damaging Het
Gucy2g A T 19: 55,216,584 (GRCm39) L464H probably benign Het
Ints2 T C 11: 86,103,489 (GRCm39) E1189G possibly damaging Het
Itgb4 T C 11: 115,894,510 (GRCm39) V1355A probably damaging Het
Lepr A T 4: 101,639,783 (GRCm39) S750C probably damaging Het
Lingo1 T C 9: 56,526,798 (GRCm39) D603G probably benign Het
Map4k3 A C 17: 80,922,499 (GRCm39) V474G probably damaging Het
Myl4 T A 11: 104,475,787 (GRCm39) V167E probably damaging Het
Naa25 T C 5: 121,562,652 (GRCm39) V478A probably benign Het
Neurl4 T A 11: 69,796,700 (GRCm39) L487H probably benign Het
Nkx2-9 C T 12: 56,658,917 (GRCm39) R99H probably damaging Het
Or4c110 C G 2: 88,831,855 (GRCm39) R259P unknown Het
Or52x1 A T 7: 104,853,367 (GRCm39) M61K probably damaging Het
Or6c76 A G 10: 129,612,091 (GRCm39) I103V probably benign Het
Pcdhga9 A G 18: 37,871,132 (GRCm39) I320M probably damaging Het
Pi15 T A 1: 17,695,137 (GRCm39) C251* probably null Het
Pkhd1l1 A T 15: 44,460,534 (GRCm39) K4248* probably null Het
Prkg1 C T 19: 30,556,032 (GRCm39) V625I probably benign Het
Prkg1 G A 19: 30,602,170 (GRCm39) A362V possibly damaging Het
Prol1 C T 5: 88,476,264 (GRCm39) T218I unknown Het
Ptpro G A 6: 137,376,599 (GRCm39) probably null Het
Rev3l T A 10: 39,699,481 (GRCm39) I1326K probably benign Het
Shank1 C A 7: 43,962,308 (GRCm39) R60S unknown Het
Slc24a2 A G 4: 86,909,774 (GRCm39) V648A probably damaging Het
Slc35d3 T C 10: 19,725,116 (GRCm39) T247A probably damaging Het
Specc1 C T 11: 62,096,223 (GRCm39) T895I probably damaging Het
Spta1 A G 1: 174,023,471 (GRCm39) E626G possibly damaging Het
Syngr2 C A 11: 117,703,401 (GRCm39) S72R possibly damaging Het
Synj2 T A 17: 6,069,809 (GRCm39) L490Q unknown Het
Tbc1d9 T C 8: 83,963,341 (GRCm39) L351P possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Themis3 G A 17: 66,862,605 (GRCm39) T451I probably benign Het
Tia1 T C 6: 86,401,364 (GRCm39) S146P probably benign Het
Tpp2 T A 1: 44,022,441 (GRCm39) N946K probably benign Het
Tpr A T 1: 150,308,310 (GRCm39) R1688S probably damaging Het
Trav12-1 A G 14: 53,775,988 (GRCm39) Q47R possibly damaging Het
Ttll9 G A 2: 152,844,278 (GRCm39) probably null Het
Ttn G A 2: 76,537,585 (GRCm39) T34781M possibly damaging Het
V1ra8 A G 6: 90,180,298 (GRCm39) Y167C probably damaging Het
Vegfb T C 19: 6,963,707 (GRCm39) D84G probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Wdr26 A G 1: 181,010,387 (GRCm39) I554T 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
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
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'- AACTGGATGCCCACTTCTGC -3'
(R):5'- CAGTGACATCATTGGAGCGC -3'

Sequencing Primer
(F):5'- GCATTGTTTTCTTGGTTCTCAATGC -3'
(R):5'- GCGCCGGCTTTGTTACAAAAATAC -3'
Posted On 2019-11-26