Incidental Mutation 'IGL00954:Sgsh'
| ID |
28585 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
119234315-119246336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119237311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 434
(E434D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005173]
[ENSMUST00000053245]
[ENSMUST00000100172]
[ENSMUST00000106250]
[ENSMUST00000136523]
|
| AlphaFold |
Q9EQ08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005173
AA Change: E434D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000005173
Gene: ENSMUSG00000005043
AA Change: E434D
| 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: ENSMUST00000053245
|
| SMART Domains |
Protein: ENSMUSP00000053665
Gene: ENSMUSG00000013483
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD
|
20 |
106 |
4.1e-25 |
PFAM |
|
coiled coil region
|
126 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
coiled coil region
|
280 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
551 |
N/A |
INTRINSIC |
|
PDZ
|
578 |
657 |
5.51e-3 |
SMART |
|
Blast:SH3
|
676 |
735 |
4e-25 |
BLAST |
|
low complexity region
|
736 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
Blast:GuKc
|
826 |
989 |
4e-63 |
BLAST |
|
SCOP:d1kjwa2
|
855 |
994 |
2e-11 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000100172
AA Change: T404S
|
| SMART Domains |
Protein: ENSMUSP00000097748
Gene: ENSMUSG00000005043
AA Change: T404S
| 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 |
probably benign
Transcript: ENSMUST00000106250
|
| SMART Domains |
Protein: ENSMUSP00000101857
Gene: ENSMUSG00000013483
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CARD
|
20 |
106 |
2.8e-25 |
PFAM |
|
coiled coil region
|
126 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
coiled coil region
|
280 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
483 |
N/A |
INTRINSIC |
|
low complexity region
|
541 |
551 |
N/A |
INTRINSIC |
|
PDZ
|
578 |
657 |
5.51e-3 |
SMART |
|
Blast:SH3
|
676 |
735 |
4e-25 |
BLAST |
|
low complexity region
|
736 |
746 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
Blast:GuKc
|
826 |
989 |
4e-63 |
BLAST |
|
SCOP:d1kjwa2
|
855 |
994 |
2e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133507
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136523
|
| SMART Domains |
Protein: ENSMUSP00000115587
Gene: ENSMUSG00000005043
| 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: ENSMUST00000147167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151052
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in Sgsh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R2472:Sgsh
|
UTSW |
11 |
119,246,300 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation