Incidental Mutation 'R2472:Sgsh'
ID |
253175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsh
|
Ensembl Gene |
ENSMUSG00000005043 |
Gene Name |
N-sulfoglucosamine sulfohydrolase (sulfamidase) |
Synonyms |
sulphamidase, 4632406A19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R2472 (G1)
|
Quality Score |
143 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
119234315-119246336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 119246300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 4
(P4Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005173]
[ENSMUST00000050880]
[ENSMUST00000100172]
[ENSMUST00000136523]
|
AlphaFold |
Q9EQ08 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005173
AA Change: P4Q
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000005173 Gene: ENSMUSG00000005043 AA Change: P4Q
Domain | Start | End | E-Value | Type |
Pfam:Sulfatase
|
23 |
328 |
2.6e-60 |
PFAM |
Pfam:Phosphodiest
|
25 |
287 |
5.2e-8 |
PFAM |
low complexity region
|
348 |
357 |
N/A |
INTRINSIC |
Pfam:DUF4976
|
400 |
477 |
1.5e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050880
|
SMART Domains |
Protein: ENSMUSP00000050999 Gene: ENSMUSG00000039908
Domain | Start | End | E-Value | Type |
Pfam:Sulfate_transp
|
31 |
424 |
1.8e-97 |
PFAM |
transmembrane domain
|
426 |
448 |
N/A |
INTRINSIC |
Pfam:STAS
|
453 |
559 |
3.6e-14 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100172
AA Change: P4Q
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000097748 Gene: ENSMUSG00000005043 AA Change: P4Q
Domain | Start | End | E-Value | Type |
Pfam:Sulfatase
|
23 |
250 |
1.7e-35 |
PFAM |
Pfam:Phosphodiest
|
25 |
237 |
2.7e-8 |
PFAM |
low complexity region
|
311 |
329 |
N/A |
INTRINSIC |
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123634
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133507
|
Predicted Effect |
unknown
Transcript: ENSMUST00000136523
AA Change: P4Q
|
SMART Domains |
Protein: ENSMUSP00000115587 Gene: ENSMUSG00000005043 AA Change: P4Q
Domain | Start | End | E-Value | Type |
PDB:4MIV|H
|
1 |
30 |
1e-5 |
PDB |
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147366
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a spontaneous allele die prematurely displaying low sulfamidase activity, variable lysosomal storage in various brain cell types and other tissues, heparan sulfate-uria, scruffy coats, corneal opacities, bladder distension, hydronephrosis, hepatosplenomegaly and bone deformities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
Cbln3 |
T |
C |
14: 56,121,538 (GRCm39) |
E36G |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,014,172 (GRCm39) |
F201L |
probably benign |
Het |
Crispld1 |
A |
T |
1: 17,816,052 (GRCm39) |
R142S |
probably null |
Het |
Dsc2 |
T |
A |
18: 20,178,526 (GRCm39) |
M293L |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,774,150 (GRCm39) |
S362T |
possibly damaging |
Het |
Grm4 |
C |
T |
17: 27,653,649 (GRCm39) |
C512Y |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
L1td1 |
C |
T |
4: 98,621,396 (GRCm39) |
|
probably benign |
Het |
Nav2 |
A |
G |
7: 49,058,632 (GRCm39) |
T252A |
probably benign |
Het |
Neu3 |
A |
C |
7: 99,462,614 (GRCm39) |
S370A |
probably damaging |
Het |
Nfasc |
T |
A |
1: 132,515,959 (GRCm39) |
|
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,051,198 (GRCm39) |
V119A |
possibly damaging |
Het |
Ptk7 |
T |
C |
17: 46,887,774 (GRCm39) |
T553A |
probably benign |
Het |
Rap2a |
T |
C |
14: 120,716,245 (GRCm39) |
I36T |
possibly damaging |
Het |
Rinl |
A |
C |
7: 28,489,803 (GRCm39) |
D7A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sec16a |
T |
C |
2: 26,329,948 (GRCm39) |
E689G |
probably damaging |
Het |
Sec31a |
T |
C |
5: 100,533,064 (GRCm39) |
I560M |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Setdb2 |
G |
A |
14: 59,656,903 (GRCm39) |
T138I |
possibly damaging |
Het |
Slco4a1 |
G |
T |
2: 180,108,880 (GRCm39) |
W308L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,611,863 (GRCm39) |
R17346S |
possibly damaging |
Het |
Ubxn4 |
A |
G |
1: 128,200,606 (GRCm39) |
R366G |
probably damaging |
Het |
Vmn2r90 |
T |
G |
17: 17,948,408 (GRCm39) |
N551K |
probably damaging |
Het |
|
Other mutations in Sgsh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00954:Sgsh
|
APN |
11 |
119,237,311 (GRCm39) |
missense |
probably benign |
|
IGL01549:Sgsh
|
APN |
11 |
119,241,755 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02110:Sgsh
|
APN |
11 |
119,243,632 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02878:Sgsh
|
APN |
11 |
119,237,384 (GRCm39) |
missense |
probably damaging |
1.00 |
hindenburg
|
UTSW |
11 |
119,241,773 (GRCm39) |
missense |
probably damaging |
1.00 |
ludendorff
|
UTSW |
11 |
119,237,183 (GRCm39) |
missense |
probably damaging |
1.00 |
BB005:Sgsh
|
UTSW |
11 |
119,238,561 (GRCm39) |
missense |
probably benign |
0.03 |
BB015:Sgsh
|
UTSW |
11 |
119,238,561 (GRCm39) |
missense |
probably benign |
0.03 |
R1187:Sgsh
|
UTSW |
11 |
119,237,404 (GRCm39) |
nonsense |
probably null |
|
R2342:Sgsh
|
UTSW |
11 |
119,238,540 (GRCm39) |
missense |
probably benign |
0.01 |
R2571:Sgsh
|
UTSW |
11 |
119,241,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R3872:Sgsh
|
UTSW |
11 |
119,241,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R3873:Sgsh
|
UTSW |
11 |
119,241,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Sgsh
|
UTSW |
11 |
119,241,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Sgsh
|
UTSW |
11 |
119,241,773 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Sgsh
|
UTSW |
11 |
119,237,594 (GRCm39) |
missense |
probably benign |
0.34 |
R5660:Sgsh
|
UTSW |
11 |
119,241,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R5938:Sgsh
|
UTSW |
11 |
119,237,625 (GRCm39) |
missense |
probably benign |
0.08 |
R7302:Sgsh
|
UTSW |
11 |
119,238,525 (GRCm39) |
missense |
probably benign |
0.02 |
R7484:Sgsh
|
UTSW |
11 |
119,237,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R7533:Sgsh
|
UTSW |
11 |
119,238,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7552:Sgsh
|
UTSW |
11 |
119,237,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R7928:Sgsh
|
UTSW |
11 |
119,238,561 (GRCm39) |
missense |
probably benign |
0.03 |
R7958:Sgsh
|
UTSW |
11 |
119,243,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R8013:Sgsh
|
UTSW |
11 |
119,243,521 (GRCm39) |
missense |
probably damaging |
0.97 |
R8014:Sgsh
|
UTSW |
11 |
119,243,521 (GRCm39) |
missense |
probably damaging |
0.97 |
R8912:Sgsh
|
UTSW |
11 |
119,243,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R9504:Sgsh
|
UTSW |
11 |
119,237,375 (GRCm39) |
missense |
probably benign |
0.23 |
R9584:Sgsh
|
UTSW |
11 |
119,241,789 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGCCAGACGCATTTAGAG -3'
(R):5'- CGGACTCTAATGGTTTGCGG -3'
Sequencing Primer
(F):5'- ACGCATTTAGAGTCACCAGG -3'
(R):5'- ACAGCTCCTGGTGACCC -3'
|
Posted On |
2014-12-04 |