Incidental Mutation 'R8111:Hgsnat'
| ID |
630874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hgsnat
|
| Ensembl Gene |
ENSMUSG00000037260 |
| Gene Name |
heparan-alpha-glucosaminide N-acetyltransferase |
| Synonyms |
9430010M12Rik, D8Ertd354e, Tmem76 |
| MMRRC Submission |
067540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26434481-26466781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26458440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 195
(V195I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037609]
[ENSMUST00000211550]
|
| AlphaFold |
Q3UDW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037609
AA Change: V195I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000040356
Gene: ENSMUSG00000037260
AA Change: V195I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
transmembrane domain
|
189 |
211 |
N/A |
INTRINSIC |
|
Pfam:DUF1624
|
260 |
434 |
6.8e-11 |
PFAM |
|
Pfam:DUF5009
|
286 |
389 |
2.4e-10 |
PFAM |
|
transmembrane domain
|
494 |
516 |
N/A |
INTRINSIC |
|
transmembrane domain
|
523 |
545 |
N/A |
INTRINSIC |
|
transmembrane domain
|
560 |
582 |
N/A |
INTRINSIC |
|
transmembrane domain
|
587 |
609 |
N/A |
INTRINSIC |
|
transmembrane domain
|
629 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211550
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 93.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit progressive storage pathology in the CNS and peripheral organs, glycosaminoglycan accumulation in brain and most somatic organs, lysosomal distension and dysfunction, astrocytosis, microgliosis, hepatosplenomegaly, behavioral deficits and premature death. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(3) Gene trapped(6)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
T |
14: 32,382,266 (GRCm39) |
W1233* |
probably null |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,691 (GRCm39) |
I247V |
probably benign |
Het |
| 8030423J24Rik |
T |
A |
13: 71,032,077 (GRCm39) |
C50S |
unknown |
Het |
| Adam29 |
T |
G |
8: 56,324,585 (GRCm39) |
H623P |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,203 (GRCm39) |
V318A |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,614,058 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ap3b2 |
A |
G |
7: 81,113,530 (GRCm39) |
I893T |
unknown |
Het |
| Apob |
G |
A |
12: 8,058,801 (GRCm39) |
A2428T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,301,674 (GRCm39) |
V660A |
probably benign |
Het |
| Atf7 |
G |
T |
15: 102,471,769 (GRCm39) |
T42K |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,366 (GRCm39) |
I160N |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,832,786 (GRCm39) |
V429A |
possibly damaging |
Het |
| Bpifb3 |
A |
C |
2: 153,764,609 (GRCm39) |
H167P |
probably benign |
Het |
| Cacna1f |
G |
T |
X: 7,487,326 (GRCm39) |
E921D |
probably damaging |
Het |
| Ccdc57 |
T |
A |
11: 120,769,713 (GRCm39) |
L713F |
probably damaging |
Het |
| Chd1l |
C |
T |
3: 97,494,526 (GRCm39) |
E385K |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 15,967,306 (GRCm39) |
V3186I |
probably benign |
Het |
| Dclre1c |
T |
A |
2: 3,448,185 (GRCm39) |
D349E |
probably benign |
Het |
| Dlg1 |
C |
T |
16: 31,661,620 (GRCm39) |
T657M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,148,688 (GRCm39) |
I919V |
probably benign |
Het |
| Dync2i2 |
C |
A |
2: 29,921,859 (GRCm39) |
A501S |
possibly damaging |
Het |
| Eml5 |
A |
G |
12: 98,758,773 (GRCm39) |
|
probably null |
Het |
| Epas1 |
C |
A |
17: 87,125,860 (GRCm39) |
S286* |
probably null |
Het |
| Fat1 |
G |
A |
8: 45,479,095 (GRCm39) |
V2714I |
possibly damaging |
Het |
| Fuca2 |
T |
C |
10: 13,390,545 (GRCm39) |
M447T |
probably benign |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gm11110 |
A |
C |
17: 57,410,427 (GRCm39) |
C24G |
probably null |
Het |
| Gm6176 |
T |
A |
7: 21,750,593 (GRCm39) |
I113F |
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Gpat2 |
G |
T |
2: 127,275,777 (GRCm39) |
L518F |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Hivep3 |
T |
A |
4: 119,955,583 (GRCm39) |
S1300T |
probably damaging |
Het |
| Hs3st2 |
A |
T |
7: 120,992,362 (GRCm39) |
H137L |
probably damaging |
Het |
| Iffo1 |
T |
C |
6: 125,122,781 (GRCm39) |
S188P |
possibly damaging |
Het |
| Itih1 |
T |
C |
14: 30,654,225 (GRCm39) |
D684G |
probably damaging |
Het |
| Lrba |
C |
A |
3: 86,235,012 (GRCm39) |
N852K |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,930 (GRCm39) |
S425P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,674,003 (GRCm39) |
S562T |
possibly damaging |
Het |
| Mex3a |
T |
C |
3: 88,444,064 (GRCm39) |
V380A |
probably benign |
Het |
| Mgat4d |
A |
T |
8: 84,094,776 (GRCm39) |
N271I |
probably damaging |
Het |
| Mmp24 |
T |
A |
2: 155,649,345 (GRCm39) |
V254E |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,503,925 (GRCm39) |
R6455S |
possibly damaging |
Het |
| Npffr1 |
T |
A |
10: 61,459,128 (GRCm39) |
V127E |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,492,541 (GRCm39) |
N165K |
probably damaging |
Het |
| Or10g3b |
G |
A |
14: 52,587,344 (GRCm39) |
T53M |
possibly damaging |
Het |
| Otulin |
A |
C |
15: 27,606,381 (GRCm39) |
V344G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,180,229 (GRCm39) |
D1030G |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Ppp2r3c |
C |
A |
12: 55,344,634 (GRCm39) |
M111I |
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,494,747 (GRCm39) |
T13A |
probably benign |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sgo2b |
T |
A |
8: 64,396,138 (GRCm39) |
K39N |
probably damaging |
Het |
| Sike1 |
T |
C |
3: 102,909,123 (GRCm39) |
*208Q |
probably null |
Het |
| Spire1 |
A |
G |
18: 67,652,391 (GRCm39) |
S229P |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,699,857 (GRCm39) |
I132V |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,190,792 (GRCm39) |
V213A |
probably damaging |
Het |
| Washc1 |
C |
G |
17: 66,423,033 (GRCm39) |
Q116E |
probably benign |
Het |
| Zfp553 |
T |
A |
7: 126,836,093 (GRCm39) |
C549* |
probably null |
Het |
| Zfp9 |
G |
A |
6: 118,441,561 (GRCm39) |
P367L |
probably damaging |
Het |
|
| Other mutations in Hgsnat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Hgsnat
|
APN |
8 |
26,462,965 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02950:Hgsnat
|
APN |
8 |
26,461,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03145:Hgsnat
|
APN |
8 |
26,436,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ample
|
UTSW |
8 |
26,437,988 (GRCm39) |
nonsense |
probably null |
|
|
generous
|
UTSW |
8 |
26,458,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
P0018:Hgsnat
|
UTSW |
8 |
26,458,382 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4305001:Hgsnat
|
UTSW |
8 |
26,435,227 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1396:Hgsnat
|
UTSW |
8 |
26,447,363 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1676:Hgsnat
|
UTSW |
8 |
26,444,633 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1856:Hgsnat
|
UTSW |
8 |
26,447,284 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1998:Hgsnat
|
UTSW |
8 |
26,435,280 (GRCm39) |
nonsense |
probably null |
|
|
R2497:Hgsnat
|
UTSW |
8 |
26,435,280 (GRCm39) |
nonsense |
probably null |
|
|
R2570:Hgsnat
|
UTSW |
8 |
26,435,280 (GRCm39) |
nonsense |
probably null |
|
|
R4012:Hgsnat
|
UTSW |
8 |
26,445,817 (GRCm39) |
nonsense |
probably null |
|
|
R4080:Hgsnat
|
UTSW |
8 |
26,436,371 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4462:Hgsnat
|
UTSW |
8 |
26,444,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Hgsnat
|
UTSW |
8 |
26,458,389 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4914:Hgsnat
|
UTSW |
8 |
26,454,866 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5010:Hgsnat
|
UTSW |
8 |
26,437,988 (GRCm39) |
nonsense |
probably null |
|
|
R5561:Hgsnat
|
UTSW |
8 |
26,436,362 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5889:Hgsnat
|
UTSW |
8 |
26,453,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6411:Hgsnat
|
UTSW |
8 |
26,436,303 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6520:Hgsnat
|
UTSW |
8 |
26,443,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Hgsnat
|
UTSW |
8 |
26,435,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Hgsnat
|
UTSW |
8 |
26,444,860 (GRCm39) |
splice site |
probably null |
|
|
R7462:Hgsnat
|
UTSW |
8 |
26,447,241 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7509:Hgsnat
|
UTSW |
8 |
26,445,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7526:Hgsnat
|
UTSW |
8 |
26,461,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Hgsnat
|
UTSW |
8 |
26,461,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7679:Hgsnat
|
UTSW |
8 |
26,444,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Hgsnat
|
UTSW |
8 |
26,444,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Hgsnat
|
UTSW |
8 |
26,461,179 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8545:Hgsnat
|
UTSW |
8 |
26,445,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8556:Hgsnat
|
UTSW |
8 |
26,443,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9071:Hgsnat
|
UTSW |
8 |
26,436,302 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9480:Hgsnat
|
UTSW |
8 |
26,442,029 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAATAGAACCGTCATGGCG -3'
(R):5'- TGAGTATATCATGTAGCTCTCCTGC -3'
Sequencing Primer
(F):5'- GTCATGGCGGATGTACAAATCCTAC -3'
(R):5'- GCTTCCTCACACAGAGTTTAACATGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation