Incidental Mutation 'R0227:Ess2'
| ID |
34012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ess2
|
| Ensembl Gene |
ENSMUSG00000003527 |
| Gene Name |
ess-2 splicing factor |
| Synonyms |
Dgsi, Dgcr14, D16H22S1269E, ES2, Es2el |
| MMRRC Submission |
038472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R0227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17718573-17729212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17720135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 406
(V406I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003621]
[ENSMUST00000046937]
[ENSMUST00000055374]
[ENSMUST00000232423]
|
| AlphaFold |
O70279 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003621
AA Change: V406I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003621
Gene: ENSMUSG00000003527
AA Change: V406I
| 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: ENSMUST00000046937
|
| SMART Domains |
Protein: ENSMUSP00000040302
Gene: ENSMUSG00000041566
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
12 |
272 |
3.86e-89 |
SMART |
|
low complexity region
|
315 |
326 |
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 |
possibly damaging
Transcript: ENSMUST00000232423
AA Change: V405I
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
86% (37/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
| Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
| Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
| Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,938 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
| D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
| Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
| Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,892,199 (GRCm39) |
R317S |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
| Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,209,541 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,968 (GRCm39) |
F697S |
possibly damaging |
Het |
| Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
| Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
| Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
| Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
Het |
|
| Other mutations in Ess2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTAGATGCTCCACAAAGTGTTCC -3'
(R):5'- GCCAAAGGTTCCATAGAGCCTCAG -3'
Sequencing Primer
(F):5'- GCCTGGCTCTAAAAGAAGTCTG -3'
(R):5'- AGGGACCATGTCTTTTCCTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation