Incidental Mutation 'R5938:Sgsh'
ID |
462394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgsh
|
Ensembl Gene |
ENSMUSG00000005043 |
Gene Name |
N-sulfoglucosamine sulfohydrolase (sulfamidase) |
Synonyms |
sulphamidase, 4632406A19Rik |
MMRRC Submission |
044131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R5938 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
119234315-119246336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119237625 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 330
(Y330H)
|
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: Y330H
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000005173 Gene: ENSMUSG00000005043 AA Change: Y330H
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: V299A
|
SMART Domains |
Protein: ENSMUSP00000097748 Gene: ENSMUSG00000005043 AA Change: V299A
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 |
noncoding transcript
Transcript: ENSMUST00000141540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151052
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147167
|
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 |
|
Meta Mutation Damage Score |
0.0946 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
Validation Efficiency |
94% (63/67) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
C |
11: 84,333,400 (GRCm39) |
D503E |
possibly damaging |
Het |
Bsn |
C |
T |
9: 107,990,208 (GRCm39) |
R1848Q |
possibly damaging |
Het |
Cacna1d |
C |
T |
14: 29,825,692 (GRCm39) |
V1001I |
probably damaging |
Het |
Calhm3 |
T |
C |
19: 47,140,516 (GRCm39) |
I192M |
probably damaging |
Het |
Cep44 |
A |
G |
8: 57,000,457 (GRCm39) |
S19P |
possibly damaging |
Het |
Cxcl15 |
T |
A |
5: 90,949,225 (GRCm39) |
I130K |
unknown |
Het |
Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
Emc1 |
T |
G |
4: 139,084,931 (GRCm39) |
H167Q |
probably benign |
Het |
Epb41l3 |
T |
G |
17: 69,566,066 (GRCm39) |
Y416D |
probably damaging |
Het |
Erbb2 |
G |
A |
11: 98,326,397 (GRCm39) |
R1007H |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,916,245 (GRCm39) |
|
probably benign |
Het |
Fat4 |
G |
A |
3: 39,005,388 (GRCm39) |
R1929Q |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,807,835 (GRCm39) |
C1385S |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,256,891 (GRCm39) |
I777T |
probably damaging |
Het |
Gm16092 |
T |
G |
1: 85,440,689 (GRCm39) |
|
noncoding transcript |
Het |
Greb1 |
T |
A |
12: 16,767,259 (GRCm39) |
K314N |
probably damaging |
Het |
Iigp1c |
C |
A |
18: 60,378,724 (GRCm39) |
N86K |
probably damaging |
Het |
Ipcef1 |
A |
G |
10: 6,858,029 (GRCm39) |
|
probably benign |
Het |
Iqank1 |
G |
A |
15: 75,917,281 (GRCm39) |
E305K |
possibly damaging |
Het |
Mgat4a |
C |
A |
1: 37,491,344 (GRCm39) |
L292F |
probably damaging |
Het |
Mill1 |
A |
G |
7: 17,996,613 (GRCm39) |
N143S |
probably benign |
Het |
Mindy1 |
A |
G |
3: 95,201,067 (GRCm39) |
T324A |
probably benign |
Het |
Mpdz |
T |
A |
4: 81,202,851 (GRCm39) |
H1882L |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,393,277 (GRCm39) |
W494R |
probably damaging |
Het |
Oas1c |
A |
T |
5: 120,943,598 (GRCm39) |
H180Q |
probably benign |
Het |
Or2q1 |
T |
A |
6: 42,794,701 (GRCm39) |
C99S |
probably damaging |
Het |
Or4c108 |
T |
C |
2: 88,803,357 (GRCm39) |
M293V |
probably benign |
Het |
Or4k49 |
A |
G |
2: 111,494,708 (GRCm39) |
M46V |
probably benign |
Het |
Or5ak20 |
A |
T |
2: 85,183,620 (GRCm39) |
S217T |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,407,396 (GRCm39) |
R291G |
probably damaging |
Het |
Pelp1 |
A |
G |
11: 70,285,693 (GRCm39) |
V725A |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,211,541 (GRCm39) |
E666G |
probably benign |
Het |
Pprc1 |
ATCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTC |
19: 46,059,755 (GRCm39) |
|
probably benign |
Het |
Prdm16 |
T |
C |
4: 154,432,411 (GRCm39) |
D285G |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,493,442 (GRCm39) |
S81P |
possibly damaging |
Het |
Rhd |
T |
A |
4: 134,623,287 (GRCm39) |
F418Y |
probably benign |
Het |
Rnf207 |
T |
C |
4: 152,402,385 (GRCm39) |
|
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
Ryr1 |
A |
C |
7: 28,746,290 (GRCm39) |
L3830R |
probably damaging |
Het |
Sh3bp5 |
T |
C |
14: 31,109,791 (GRCm39) |
E130G |
possibly damaging |
Het |
Slc29a3 |
A |
G |
10: 60,588,563 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
A |
G |
6: 142,194,443 (GRCm39) |
L400P |
probably damaging |
Het |
Snd1 |
A |
G |
6: 28,874,858 (GRCm39) |
|
probably null |
Het |
Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tas2r110 |
A |
T |
6: 132,845,016 (GRCm39) |
I16L |
probably benign |
Het |
Tmx3 |
T |
A |
18: 90,546,058 (GRCm39) |
V213D |
possibly damaging |
Het |
Uba2 |
A |
T |
7: 33,864,915 (GRCm39) |
|
probably null |
Het |
Wfikkn1 |
T |
A |
17: 26,097,886 (GRCm39) |
D112V |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,467,198 (GRCm39) |
N2452S |
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 |
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 |
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'- AGCTCAGGTTGTGAATGAGG -3'
(R):5'- CAGGGCCTCTGGTTATACTG -3'
Sequencing Primer
(F):5'- TGTGAATGAGGCGGAAGTTC -3'
(R):5'- TCACTGGCCAGAGGTGATC -3'
|
Posted On |
2017-02-28 |