Incidental Mutation 'R4451:Gns'
| ID |
328974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gns
|
| Ensembl Gene |
ENSMUSG00000034707 |
| Gene Name |
glucosamine (N-acetyl)-6-sulfatase |
| Synonyms |
2610016K11Rik, G6S |
| MMRRC Submission |
041712-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.199)
|
| Stock # |
R4451 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
121200995-121233154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121212601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 188
(G188S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040344]
[ENSMUST00000219249]
[ENSMUST00000219505]
[ENSMUST00000219851]
|
| AlphaFold |
Q8BFR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040344
AA Change: G188S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: G188S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:Sulfatase
|
39 |
376 |
1.4e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219249
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219505
AA Change: G117S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219851
|
| Meta Mutation Damage Score |
0.8064 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (43/43) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in progressive lysosomal glycosaminoglycan accumulation in the central nervous system and peripheral organs and causes hypoactivity and shortened lifespan. [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 |
|---|
| Arap2 |
A |
C |
5: 62,906,513 (GRCm39) |
F169V |
probably benign |
Het |
| Baiap2l1 |
T |
A |
5: 144,215,362 (GRCm39) |
Y381F |
probably damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Cela3b |
G |
A |
4: 137,148,355 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
A |
T |
19: 39,279,270 (GRCm39) |
D50V |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,806 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah9 |
T |
A |
11: 65,772,467 (GRCm39) |
Q3755L |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,962,792 (GRCm39) |
T588A |
possibly damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,983,477 (GRCm39) |
R4022S |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Gm7347 |
A |
G |
5: 26,260,004 (GRCm39) |
I182T |
possibly damaging |
Het |
| Grm5 |
T |
G |
7: 87,724,340 (GRCm39) |
|
probably null |
Het |
| Gstm4 |
T |
C |
3: 107,951,291 (GRCm39) |
|
probably null |
Het |
| Il7r |
T |
A |
15: 9,513,034 (GRCm39) |
K158N |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,266,749 (GRCm39) |
Y489C |
probably benign |
Het |
| Kcns1 |
C |
T |
2: 164,010,598 (GRCm39) |
E54K |
possibly damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,797 (GRCm39) |
R31* |
probably null |
Het |
| Krt13 |
T |
C |
11: 100,008,827 (GRCm39) |
T409A |
unknown |
Het |
| Lce1e |
C |
T |
3: 92,614,967 (GRCm39) |
G127S |
unknown |
Het |
| Mfsd14a |
T |
C |
3: 116,456,127 (GRCm39) |
M1V |
probably null |
Het |
| Micall2 |
T |
C |
5: 139,692,852 (GRCm39) |
E891G |
probably damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,440,596 (GRCm39) |
K685* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,899,753 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
G |
15: 8,180,366 (GRCm39) |
M1148V |
probably benign |
Het |
| Or51aa5 |
A |
G |
7: 103,167,184 (GRCm39) |
S136P |
probably damaging |
Het |
| Or5m3b |
T |
C |
2: 85,872,303 (GRCm39) |
S215P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,542,508 (GRCm39) |
D695V |
possibly damaging |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pxmp2 |
A |
T |
5: 110,425,531 (GRCm39) |
V168E |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,505 (GRCm39) |
K427E |
probably damaging |
Het |
| Susd2 |
A |
G |
10: 75,475,232 (GRCm39) |
V526A |
probably damaging |
Het |
| Tbx2 |
T |
C |
11: 85,731,643 (GRCm39) |
S647P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,637,996 (GRCm39) |
T651A |
probably benign |
Het |
| Trim68 |
T |
A |
7: 102,333,680 (GRCm39) |
M1L |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,584,250 (GRCm39) |
L20540* |
probably null |
Het |
| Usf3 |
A |
T |
16: 44,038,251 (GRCm39) |
K910N |
possibly damaging |
Het |
| Vmn1r14 |
T |
G |
6: 57,211,213 (GRCm39) |
Y220D |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,668 (GRCm39) |
K7N |
probably benign |
Het |
|
| Other mutations in Gns |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02097:Gns
|
APN |
10 |
121,226,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4402001:Gns
|
UTSW |
10 |
121,212,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0086:Gns
|
UTSW |
10 |
121,227,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0344:Gns
|
UTSW |
10 |
121,219,328 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0544:Gns
|
UTSW |
10 |
121,212,172 (GRCm39) |
nonsense |
probably null |
|
|
R0626:Gns
|
UTSW |
10 |
121,219,349 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1770:Gns
|
UTSW |
10 |
121,213,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2142:Gns
|
UTSW |
10 |
121,228,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4036:Gns
|
UTSW |
10 |
121,207,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Gns
|
UTSW |
10 |
121,217,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5264:Gns
|
UTSW |
10 |
121,216,090 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5467:Gns
|
UTSW |
10 |
121,227,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7268:Gns
|
UTSW |
10 |
121,212,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7588:Gns
|
UTSW |
10 |
121,226,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8083:Gns
|
UTSW |
10 |
121,214,008 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9075:Gns
|
UTSW |
10 |
121,226,542 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9179:Gns
|
UTSW |
10 |
121,216,080 (GRCm39) |
missense |
|
|
|
R9749:Gns
|
UTSW |
10 |
121,214,057 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGGATTAACAAAGCCCTG -3'
(R):5'- AGCCTAGAGGTCTTTAATAAGCTGG -3'
Sequencing Primer
(F):5'- AGCCCTGCTAGTCTATGACAATG -3'
(R):5'- CTGGAAAGACTCTTTGGCAGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation