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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |