Incidental Mutation 'R2377:Chst4'
| ID |
248316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst4
|
| Ensembl Gene |
ENSMUSG00000035930 |
| Gene Name |
carbohydrate sulfotransferase 4 |
| Synonyms |
GST-3, HEC-GlcNAc6ST, high endothelial cell GlcNAC-6-sulphotransferase |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R2377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
110755707-110766033 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110756804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 270
(Y270F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104845
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109222]
[ENSMUST00000211894]
[ENSMUST00000212934]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109222
AA Change: Y270F
PolyPhen 2
Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104845
Gene: ENSMUSG00000035930
AA Change: Y270F
| 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: Y353F
PolyPhen 2
Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212934
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
| Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
possibly damaging |
Het |
|
| Other mutations in Chst4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Chst4
|
APN |
8 |
110,756,597 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCTTGAAGCTGGGAAAC -3'
(R):5'- TGCGTTTTCTCAGCCTGCAG -3'
Sequencing Primer
(F):5'- CACGCCTGAGAGACGTTGAG -3'
(R):5'- TCAACCTGCACGTCGTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation