Incidental Mutation 'R6694:Siae'
| ID |
528504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siae
|
| Ensembl Gene |
ENSMUSG00000001942 |
| Gene Name |
sialic acid acetylesterase |
| Synonyms |
LSE, clone 165, Ysg2 |
| MMRRC Submission |
044812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R6694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37555698-37649655 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37616823 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 31
(Y31N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002007]
[ENSMUST00000002013]
[ENSMUST00000213126]
[ENSMUST00000214786]
[ENSMUST00000215474]
[ENSMUST00000215829]
|
| AlphaFold |
P70665 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002007
|
| SMART Domains |
Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF303
|
118 |
420 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002013
|
| SMART Domains |
Protein: ENSMUSP00000002013
Gene: ENSMUSG00000001948
| Domain | Start | End | E-Value | Type |
|---|
|
RIIa
|
14 |
51 |
7.04e-15 |
SMART |
|
low complexity region
|
75 |
86 |
N/A |
INTRINSIC |
|
IQ
|
111 |
133 |
7.4e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215336
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215474
AA Change: Y31N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217567
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600015I10Rik |
G |
A |
6: 48,930,546 (GRCm38) |
S160N |
probably benign |
Het |
| 4930444G20Rik |
T |
C |
10: 22,067,721 (GRCm38) |
E120G |
probably damaging |
Het |
| Arap3 |
A |
C |
18: 37,991,537 (GRCm38) |
|
probably null |
Het |
| Arhgap10 |
A |
G |
8: 77,411,063 (GRCm38) |
F300L |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 17,142,791 (GRCm38) |
E54G |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,767,386 (GRCm38) |
I122F |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,624,505 (GRCm38) |
|
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,037,070 (GRCm38) |
D1691G |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,186,882 (GRCm38) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,549,552 (GRCm38) |
M392K |
probably damaging |
Het |
| Exoc3l |
G |
C |
8: 105,290,490 (GRCm38) |
R622G |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,931,047 (GRCm38) |
R224G |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,625,526 (GRCm38) |
E16G |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,640,757 (GRCm38) |
V568A |
possibly damaging |
Het |
| Lhx4 |
T |
C |
1: 155,704,710 (GRCm38) |
S257G |
probably benign |
Het |
| Med18 |
C |
T |
4: 132,459,982 (GRCm38) |
V114I |
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,386,961 (GRCm38) |
V92M |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,564,333 (GRCm38) |
V645I |
probably benign |
Het |
| Nuak2 |
T |
G |
1: 132,332,310 (GRCm38) |
S609A |
probably damaging |
Het |
| Olfr1393 |
A |
T |
11: 49,280,552 (GRCm38) |
I135F |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,801,828 (GRCm38) |
V58A |
probably damaging |
Het |
| Polq |
T |
A |
16: 37,015,173 (GRCm38) |
F145L |
probably null |
Het |
| Rab11fip2 |
T |
C |
19: 59,937,275 (GRCm38) |
K170R |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,759,984 (GRCm38) |
V246A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,400,543 (GRCm38) |
S316P |
probably damaging |
Het |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,579,928 (GRCm38) |
|
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,579,904 (GRCm38) |
|
probably benign |
Homo |
| Sae1 |
G |
T |
7: 16,368,536 (GRCm38) |
A171E |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,143,708 (GRCm38) |
N959K |
probably benign |
Het |
| Sit1 |
C |
T |
4: 43,483,311 (GRCm38) |
G51D |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 123,267,789 (GRCm38) |
I436V |
possibly damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,622,654 (GRCm38) |
S470P |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,670,952 (GRCm38) |
C288* |
probably null |
Het |
| Timeless |
T |
G |
10: 128,239,999 (GRCm38) |
|
probably null |
Het |
| Ubxn8 |
G |
T |
8: 33,621,544 (GRCm38) |
Q274K |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,962,277 (GRCm38) |
E373G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,782,517 (GRCm38) |
Y597C |
probably damaging |
Het |
| Zfp523 |
T |
G |
17: 28,200,472 (GRCm38) |
Y195D |
probably damaging |
Het |
| Zfp74 |
G |
A |
7: 29,935,134 (GRCm38) |
A383V |
probably damaging |
Het |
| Zfp93 |
A |
T |
7: 24,275,913 (GRCm38) |
Q441L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,614,186 (GRCm38) |
Y76N |
probably damaging |
Het |
|
| Other mutations in Siae |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Siae
|
APN |
9 |
37,631,486 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02696:Siae
|
APN |
9 |
37,631,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB009:Siae
|
UTSW |
9 |
37,633,684 (GRCm38) |
missense |
probably benign |
0.12 |
|
BB019:Siae
|
UTSW |
9 |
37,633,684 (GRCm38) |
missense |
probably benign |
0.12 |
|
R0531:Siae
|
UTSW |
9 |
37,627,794 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1138:Siae
|
UTSW |
9 |
37,642,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1748:Siae
|
UTSW |
9 |
37,631,606 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2175:Siae
|
UTSW |
9 |
37,627,796 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4301:Siae
|
UTSW |
9 |
37,633,713 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4887:Siae
|
UTSW |
9 |
37,627,800 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4989:Siae
|
UTSW |
9 |
37,646,520 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5133:Siae
|
UTSW |
9 |
37,646,520 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5134:Siae
|
UTSW |
9 |
37,646,520 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R5151:Siae
|
UTSW |
9 |
37,631,573 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5242:Siae
|
UTSW |
9 |
37,644,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5459:Siae
|
UTSW |
9 |
37,616,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5571:Siae
|
UTSW |
9 |
37,616,923 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6335:Siae
|
UTSW |
9 |
37,632,981 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6552:Siae
|
UTSW |
9 |
37,646,400 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R6692:Siae
|
UTSW |
9 |
37,642,799 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7183:Siae
|
UTSW |
9 |
37,616,946 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7266:Siae
|
UTSW |
9 |
37,623,013 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7697:Siae
|
UTSW |
9 |
37,633,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7821:Siae
|
UTSW |
9 |
37,644,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7932:Siae
|
UTSW |
9 |
37,633,684 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8312:Siae
|
UTSW |
9 |
37,646,297 (GRCm38) |
missense |
|
|
|
R8377:Siae
|
UTSW |
9 |
37,631,605 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8868:Siae
|
UTSW |
9 |
37,616,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9014:Siae
|
UTSW |
9 |
37,646,343 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R9198:Siae
|
UTSW |
9 |
37,627,809 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9447:Siae
|
UTSW |
9 |
37,646,447 (GRCm38) |
missense |
probably benign |
0.08 |
|
Z1176:Siae
|
UTSW |
9 |
37,631,469 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGGTCATGTTCTGCTGTGATAC -3'
(R):5'- TCATTTTCAGATAATCCAGCAGGTG -3'
Sequencing Primer
(F):5'- TTTAATCTGGAGCAACTGGACCCG -3'
(R):5'- TGGCAGAAGAGGACAATAACTGAAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation