Incidental Mutation 'IGL01118:Ess2'
ID 52945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ess2
Ensembl Gene ENSMUSG00000003527
Gene Name ess-2 splicing factor
Synonyms Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL01118
Quality Score
Status
Chromosome 16
Chromosomal Location 17718573-17729212 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17720796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 350 (I350N)
Ref Sequence ENSEMBL: ENSMUSP00000003621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003621] [ENSMUST00000055374] [ENSMUST00000232423]
AlphaFold O70279
Predicted Effect probably damaging
Transcript: ENSMUST00000003621
AA Change: I350N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: I350N

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: ENSMUST00000055374
SMART Domains Protein: ENSMUSP00000051035
Gene: ENSMUSG00000045521

DomainStartEndE-ValueType
S_TKc 12 272 1.39e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231750
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232111
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232366
Predicted Effect probably damaging
Transcript: ENSMUST00000232423
AA Change: I349N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,195,058 (GRCm39) R539Q probably benign Het
Abcb1a G A 5: 8,724,687 (GRCm39) R40H probably damaging Het
Acan T A 7: 78,748,401 (GRCm39) S1057R possibly damaging Het
Ahnak A T 19: 8,989,942 (GRCm39) D3742V probably damaging Het
Amdhd1 A T 10: 93,367,430 (GRCm39) D241E probably benign Het
Cntn5 T C 9: 9,831,565 (GRCm39) Y605C possibly damaging Het
Dnmt3l T C 10: 77,893,120 (GRCm39) F299S probably damaging Het
Eif1ad19 T A 12: 87,740,212 (GRCm39) N116Y probably damaging Het
G6pd2 A T 5: 61,967,406 (GRCm39) M394L probably benign Het
Gm9839 A T 1: 32,558,924 (GRCm39) M386K probably benign Het
Gtf2h3 T C 5: 124,733,731 (GRCm39) V268A probably damaging Het
Hgs T C 11: 120,366,040 (GRCm39) V195A probably damaging Het
Igkv3-2 A T 6: 70,675,978 (GRCm39) S96C probably damaging Het
Mgl2 A G 11: 70,025,015 (GRCm39) E12G probably benign Het
Mup11 A T 4: 60,615,779 (GRCm39) F153I probably damaging Het
Nf1 T A 11: 79,437,812 (GRCm39) C2057S probably damaging Het
Nkrf A G X: 36,152,410 (GRCm39) F624S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Or8k40 A G 2: 86,584,314 (GRCm39) I256T probably benign Het
Pax8 T C 2: 24,332,944 (GRCm39) probably benign Het
Psg28 A T 7: 18,162,017 (GRCm39) V162D probably damaging Het
Rai1 T C 11: 60,078,264 (GRCm39) F776S probably damaging Het
Taar8a A T 10: 23,952,759 (GRCm39) H121L probably damaging Het
Tas2r113 A G 6: 132,870,278 (GRCm39) N102S probably benign Het
Trpm1 A G 7: 63,885,572 (GRCm39) T863A probably benign Het
Ttf2 A G 3: 100,874,413 (GRCm39) probably benign Het
Wdr62 T C 7: 29,942,206 (GRCm39) H611R probably damaging Het
Wdr90 A T 17: 26,073,661 (GRCm39) L762Q probably damaging Het
Yeats2 T G 16: 20,005,054 (GRCm39) S364A probably damaging Het
Zdhhc15 G T X: 103,641,712 (GRCm39) Q82K probably benign Het
Other mutations in Ess2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21