Incidental Mutation 'R0316:Ess2'
ID 34225
Institutional Source Beutler Lab
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
MMRRC Submission 038526-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R0316 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17727958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 103 (P103S)
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: P103S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: P103S

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: P103S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000232493
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,765 (GRCm39) F276I probably damaging Het
Ado A G 10: 67,384,548 (GRCm39) L19P possibly damaging Het
Ago2 T C 15: 73,002,725 (GRCm39) H169R probably damaging Het
Asic1 G A 15: 99,569,819 (GRCm39) A47T probably benign Het
Atg16l2 A T 7: 100,942,603 (GRCm39) I364N probably damaging Het
C130050O18Rik G A 5: 139,400,313 (GRCm39) R122Q probably damaging Het
Capn7 T A 14: 31,069,766 (GRCm39) C197S probably benign Het
Casp16 T C 17: 23,771,066 (GRCm39) D113G probably damaging Het
Cdh18 T A 15: 23,366,999 (GRCm39) V235D probably damaging Het
Clca4a G T 3: 144,659,525 (GRCm39) T777K probably damaging Het
Col17a1 A G 19: 47,673,972 (GRCm39) probably null Het
Col5a3 C A 9: 20,686,621 (GRCm39) D1335Y unknown Het
Cpxm1 T C 2: 130,235,091 (GRCm39) E576G probably damaging Het
Dcbld2 T C 16: 58,253,808 (GRCm39) S182P probably damaging Het
Dclk1 C T 3: 55,410,313 (GRCm39) S616L probably damaging Het
Dll4 C A 2: 119,161,634 (GRCm39) D405E probably damaging Het
Dnah1 G A 14: 31,000,108 (GRCm39) R2462C probably benign Het
Dnah3 A T 7: 119,564,882 (GRCm39) Y2594N possibly damaging Het
Fam110a C A 2: 151,812,006 (GRCm39) A255S probably benign Het
Fbn2 G A 18: 58,246,397 (GRCm39) R502W probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Gm1527 T C 3: 28,969,923 (GRCm39) S342P probably damaging Het
Gm19668 A T 10: 77,634,564 (GRCm39) probably benign Het
Gm5901 A T 7: 105,026,522 (GRCm39) T97S probably damaging Het
Greb1l A G 18: 10,547,420 (GRCm39) Y1546C probably damaging Het
Impg1 A T 9: 80,249,347 (GRCm39) S619T probably damaging Het
Itih2 C A 2: 10,110,057 (GRCm39) Q565H possibly damaging Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lama3 T C 18: 12,652,934 (GRCm39) M218T probably benign Het
Lipg T C 18: 75,094,012 (GRCm39) S12G probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mex3d G T 10: 80,217,505 (GRCm39) P571T probably damaging Het
Neb A C 2: 52,085,482 (GRCm39) Y1538D possibly damaging Het
Nsd1 T C 13: 55,361,584 (GRCm39) I184T probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b99 T A 19: 12,976,766 (GRCm39) C139S probably damaging Het
Or5w18 T C 2: 87,633,525 (GRCm39) F264S probably damaging Het
Pacs1 T C 19: 5,185,149 (GRCm39) silent Het
Pdcd11 T C 19: 47,101,611 (GRCm39) V932A probably damaging Het
Pkd2 A G 5: 104,625,032 (GRCm39) D276G probably damaging Het
Pkia T A 3: 7,502,499 (GRCm39) D25E probably damaging Het
Plxna2 A C 1: 194,326,458 (GRCm39) S131R probably damaging Het
Prelid1 T C 13: 55,472,220 (GRCm39) V132A possibly damaging Het
Psma3 T C 12: 71,030,163 (GRCm39) Y59H probably benign Het
Ptchd3 A C 11: 121,732,916 (GRCm39) E602A possibly damaging Het
Ptpro T C 6: 137,353,987 (GRCm39) V121A possibly damaging Het
Ptprt A G 2: 161,449,239 (GRCm39) L878P probably damaging Het
Pxn G A 5: 115,692,027 (GRCm39) G370S probably damaging Het
Rcn2 G T 9: 55,949,453 (GRCm39) A40S probably benign Het
Rnf215 A G 11: 4,089,760 (GRCm39) N258D probably damaging Het
Rnpc3 T C 3: 113,423,622 (GRCm39) T28A probably damaging Het
Rtel1 T A 2: 180,997,795 (GRCm39) V1100E possibly damaging Het
Scn3a T A 2: 65,291,173 (GRCm39) I1858F probably damaging Het
Slc9c1 G A 16: 45,400,595 (GRCm39) R735Q possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata13 A G 14: 60,929,788 (GRCm39) T449A probably benign Het
Svep1 A G 4: 58,072,737 (GRCm39) W2191R probably damaging Het
Thbs1 G A 2: 117,948,055 (GRCm39) R405H probably damaging Het
Tnn A G 1: 159,948,137 (GRCm39) Y859H possibly damaging Het
Tonsl A G 15: 76,513,500 (GRCm39) S1245P possibly damaging Het
Tpcn1 G A 5: 120,677,324 (GRCm39) T661M probably damaging Het
Trap1 A G 16: 3,863,424 (GRCm39) F533L probably benign Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Vax2 T C 6: 83,688,426 (GRCm39) S50P possibly damaging Het
Vmn1r5 A C 6: 56,962,784 (GRCm39) E153A probably benign Het
Vmn2r14 G T 5: 109,366,762 (GRCm39) P486Q probably benign Het
Vmn2r96 T A 17: 18,802,827 (GRCm39) F246I probably damaging Het
Zc3h10 C A 10: 128,380,624 (GRCm39) E244D probably damaging Het
Zdhhc18 T A 4: 133,340,966 (GRCm39) K265* probably null 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
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
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'- TGGCAGGGACTTCAGACAGTTATCC -3'

Sequencing Primer
(F):5'- acgcctttaatcccagcac -3'
(R):5'- GACAGTTATCCAGAGAGACTTCTTCC -3'
Posted On 2013-05-09