Incidental Mutation 'IGL01077:Chst4'
| ID |
51728 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chst4
|
| Ensembl Gene |
ENSMUSG00000035930 |
| Gene Name |
carbohydrate sulfotransferase 4 |
| Synonyms |
GST-3, HEC-GlcNAc6ST, high endothelial cell GlcNAC-6-sulphotransferase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
110755707-110766033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110756597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 422
(Y422F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109222]
[ENSMUST00000211894]
[ENSMUST00000212934]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109222
AA Change: Y339F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000104845
Gene: ENSMUSG00000035930
AA Change: Y339F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_3
|
41 |
296 |
6.4e-15 |
PFAM |
|
Pfam:Sulfotransfer_1
|
41 |
357 |
2.4e-26 |
PFAM |
|
low complexity region
|
370 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211894
AA Change: Y422F
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212934
|
| 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 an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3'phosphoadenosine 5'phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene do not accumulate lymphocytes in peripheral lymph nodes to as great an extent as normal. The animals are phenotypically normal otherwise. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(1) Targeted, other(1) |
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
| Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
| Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
| Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
| Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
| Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
| Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
| Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
| Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
| Other mutations in Chst4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
A4554:Chst4
|
UTSW |
8 |
110,756,520 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0091:Chst4
|
UTSW |
8 |
110,757,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Chst4
|
UTSW |
8 |
110,757,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1171:Chst4
|
UTSW |
8 |
110,757,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Chst4
|
UTSW |
8 |
110,756,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2377:Chst4
|
UTSW |
8 |
110,756,804 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3421:Chst4
|
UTSW |
8 |
110,757,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5514:Chst4
|
UTSW |
8 |
110,756,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Chst4
|
UTSW |
8 |
110,756,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7141:Chst4
|
UTSW |
8 |
110,757,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Chst4
|
UTSW |
8 |
110,757,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Chst4
|
UTSW |
8 |
110,756,630 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7732:Chst4
|
UTSW |
8 |
110,756,514 (GRCm39) |
nonsense |
probably null |
|
|
R7871:Chst4
|
UTSW |
8 |
110,757,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8493:Chst4
|
UTSW |
8 |
110,757,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Chst4
|
UTSW |
8 |
110,756,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation