Incidental Mutation 'R5571:Siae'
| ID |
435675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Siae
|
| Ensembl Gene |
ENSMUSG00000001942 |
| Gene Name |
sialic acid acetylesterase |
| Synonyms |
LSE, clone 165, Ysg2 |
| MMRRC Submission |
044395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5571 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37525117-37559554 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37528219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 64
(G64D)
|
| 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
AA Change: G29D
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215336
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215474
AA Change: G64D
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215678
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215829
AA Change: G29D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217567
|
| Meta Mutation Damage Score |
0.0684 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 92.9%
|
| Validation Efficiency |
100% (59/59) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
A |
T |
3: 59,784,640 (GRCm39) |
H371L |
probably damaging |
Het |
| Atad5 |
T |
C |
11: 80,002,382 (GRCm39) |
V1058A |
probably benign |
Het |
| Baiap2l2 |
T |
C |
15: 79,155,783 (GRCm39) |
H97R |
probably damaging |
Het |
| Bax |
A |
G |
7: 45,111,315 (GRCm39) |
S184P |
probably damaging |
Het |
| Bsph1 |
T |
G |
7: 13,184,840 (GRCm39) |
M1R |
probably null |
Het |
| Cbln2 |
A |
G |
18: 86,731,273 (GRCm39) |
D27G |
probably benign |
Het |
| Cntnap3 |
G |
A |
13: 65,051,572 (GRCm39) |
A28V |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,715,938 (GRCm39) |
R1641L |
unknown |
Het |
| Dhrs3 |
T |
G |
4: 144,620,134 (GRCm39) |
I17S |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,527,418 (GRCm39) |
|
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,664,717 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,064,423 (GRCm39) |
E4793V |
probably damaging |
Het |
| Fbxw22 |
T |
G |
9: 109,232,156 (GRCm39) |
K80N |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,436,066 (GRCm39) |
E322G |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,855,994 (GRCm39) |
D1927G |
probably damaging |
Het |
| Fndc7 |
T |
C |
3: 108,763,724 (GRCm39) |
I639V |
possibly damaging |
Het |
| Folh1 |
T |
C |
7: 86,383,328 (GRCm39) |
Y473C |
probably damaging |
Het |
| Foxb2 |
T |
A |
19: 16,850,131 (GRCm39) |
M292L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,605,265 (GRCm39) |
S41P |
probably damaging |
Het |
| Gmds |
A |
T |
13: 32,101,704 (GRCm39) |
|
probably null |
Het |
| Gp6 |
G |
T |
7: 4,371,899 (GRCm39) |
A302D |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,803,171 (GRCm39) |
M8K |
probably benign |
Het |
| Itpripl2 |
C |
T |
7: 118,089,092 (GRCm39) |
R489Q |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,474,760 (GRCm39) |
V175A |
possibly damaging |
Het |
| Lce1i |
C |
T |
3: 92,684,988 (GRCm39) |
G63S |
unknown |
Het |
| Lrp1b |
T |
C |
2: 41,298,354 (GRCm39) |
Q155R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Neto2 |
C |
T |
8: 86,367,173 (GRCm39) |
D524N |
probably damaging |
Het |
| Oga |
T |
C |
19: 45,765,445 (GRCm39) |
T121A |
probably benign |
Het |
| Or1j10 |
A |
G |
2: 36,267,129 (GRCm39) |
T114A |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,877 (GRCm39) |
F117I |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,824 (GRCm39) |
I278T |
possibly damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,569 (GRCm39) |
I174L |
probably benign |
Het |
| Ppp4r1 |
C |
T |
17: 66,110,856 (GRCm39) |
Q21* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,570,334 (GRCm39) |
T4930S |
possibly damaging |
Het |
| Scart2 |
T |
A |
7: 139,829,036 (GRCm39) |
C232S |
probably damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,252,282 (GRCm39) |
M10V |
possibly damaging |
Het |
| Ssrp1 |
C |
G |
2: 84,874,669 (GRCm39) |
D496E |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,725,912 (GRCm39) |
S371P |
probably damaging |
Het |
| Taf6l |
G |
A |
19: 8,761,294 (GRCm39) |
R24W |
probably damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,039,555 (GRCm39) |
Q118R |
probably damaging |
Het |
| Tln2 |
C |
T |
9: 67,241,602 (GRCm39) |
G1001E |
possibly damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,348,872 (GRCm39) |
N184D |
probably damaging |
Het |
| Tmprss2 |
A |
T |
16: 97,392,071 (GRCm39) |
W131R |
probably null |
Het |
| Ube2d2a |
A |
G |
18: 35,903,531 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,954,480 (GRCm39) |
Y1043H |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,407,975 (GRCm39) |
I2600K |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,168 (GRCm39) |
Y218C |
probably damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,106 (GRCm39) |
Y247C |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,192,463 (GRCm39) |
N699K |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,951,402 (GRCm39) |
V579A |
probably benign |
Het |
| Zfhx3 |
A |
T |
8: 109,682,623 (GRCm39) |
Q3354L |
unknown |
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 |
|
R1138:Siae
|
UTSW |
9 |
37,553,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CGGATCCACATGATGCTGAATC -3'
(R):5'- AGCCTTGTTACCATTTGTGGTATC -3'
Sequencing Primer
(F):5'- GATCCACATGATGCTGAATCTCCTG -3'
(R):5'- CAAATAACTCTTATGGATGGATGGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation