Incidental Mutation 'R1138:Siae'
| ID |
95298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siae
|
| Ensembl Gene |
ENSMUSG00000001942 |
| Gene Name |
sialic acid acetylesterase |
| Synonyms |
LSE, clone 165, Ysg2 |
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37525117-37559554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37553988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 366
(R366H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002007]
[ENSMUST00000213126]
[ENSMUST00000215474]
|
| AlphaFold |
P70665 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002007
AA Change: R294H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
AA Change: R294H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF303
|
118 |
420 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213126
AA Change: R331H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000213964
AA Change: R4H
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215474
AA Change: R366H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit normal marginal zone B cell and memory phenotype T cell numbers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,542,011 (GRCm39) |
|
probably null |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
possibly damaging |
Het |
|
| Other mutations in Siae |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Siae
|
APN |
9 |
37,542,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02696:Siae
|
APN |
9 |
37,542,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Siae
|
UTSW |
9 |
37,544,980 (GRCm39) |
missense |
probably benign |
0.12 |
|
BB019:Siae
|
UTSW |
9 |
37,544,980 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0531:Siae
|
UTSW |
9 |
37,539,090 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1748:Siae
|
UTSW |
9 |
37,542,902 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2175:Siae
|
UTSW |
9 |
37,539,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Siae
|
UTSW |
9 |
37,545,009 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4887:Siae
|
UTSW |
9 |
37,539,096 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4989:Siae
|
UTSW |
9 |
37,557,816 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5133:Siae
|
UTSW |
9 |
37,557,816 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5134:Siae
|
UTSW |
9 |
37,557,816 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5151:Siae
|
UTSW |
9 |
37,542,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5242:Siae
|
UTSW |
9 |
37,556,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Siae
|
UTSW |
9 |
37,528,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5571:Siae
|
UTSW |
9 |
37,528,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6335:Siae
|
UTSW |
9 |
37,544,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6552:Siae
|
UTSW |
9 |
37,557,696 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6692:Siae
|
UTSW |
9 |
37,554,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6694:Siae
|
UTSW |
9 |
37,528,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Siae
|
UTSW |
9 |
37,528,242 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7266:Siae
|
UTSW |
9 |
37,534,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7697:Siae
|
UTSW |
9 |
37,544,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Siae
|
UTSW |
9 |
37,556,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Siae
|
UTSW |
9 |
37,544,980 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8312:Siae
|
UTSW |
9 |
37,557,593 (GRCm39) |
missense |
|
|
|
R8377:Siae
|
UTSW |
9 |
37,542,901 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8868:Siae
|
UTSW |
9 |
37,528,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Siae
|
UTSW |
9 |
37,557,639 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9198:Siae
|
UTSW |
9 |
37,539,105 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9447:Siae
|
UTSW |
9 |
37,557,743 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1176:Siae
|
UTSW |
9 |
37,542,765 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAAGCCACAAGCAGTGGTCTC -3'
(R):5'- GGCAAGAACATTCGCAGGCAAC -3'
Sequencing Primer
(F):5'- TTGTTGGACACGACCCTGAAC -3'
(R):5'- CCTAAAGCTGAAGAGGCGACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation