Incidental Mutation 'R5703:Chst2'
| ID |
451799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst2
|
| Ensembl Gene |
ENSMUSG00000033350 |
| Gene Name |
carbohydrate sulfotransferase 2 |
| Synonyms |
C130041E03Rik, N-acetylglucosamine-6-O-sulfotransferase, Gn6st, GST-2 |
| MMRRC Submission |
043183-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5703 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
95282979-95289323 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95286985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 454
(F454L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040775
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036267]
|
| AlphaFold |
Q80WV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036267
AA Change: F454L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040775
Gene: ENSMUSG00000033350
AA Change: F454L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
45 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
149 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_1
|
164 |
507 |
7e-27 |
PFAM |
|
Pfam:Sulfotransfer_3
|
165 |
446 |
6.6e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192612
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display decreased lymphocyte binding to peripheral lymph node high endothelial venules, and significantly reduced lymphocyte homing to Peyer's patches, peripheral and mesenteric lymph nodes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,459,640 (GRCm39) |
N605I |
probably damaging |
Het |
| Btd |
C |
T |
14: 31,389,004 (GRCm39) |
R242* |
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,703 (GRCm39) |
D1502G |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,947,092 (GRCm39) |
A146T |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,183 (GRCm39) |
S399T |
probably benign |
Het |
| Dspp |
C |
T |
5: 104,324,917 (GRCm39) |
H427Y |
possibly damaging |
Het |
| Dtx4 |
A |
T |
19: 12,459,574 (GRCm39) |
M410K |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,877,171 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
T |
10: 25,317,665 (GRCm39) |
R61W |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,421,147 (GRCm39) |
K553E |
probably benign |
Het |
| Git1 |
CCG |
C |
11: 77,395,494 (GRCm39) |
|
probably null |
Het |
| Gm13199 |
C |
T |
2: 5,867,259 (GRCm39) |
|
probably benign |
Het |
| Gramd2a |
G |
A |
9: 59,615,299 (GRCm39) |
G13R |
probably benign |
Het |
| Hoxa2 |
G |
T |
6: 52,140,243 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hycc1 |
A |
T |
5: 24,185,577 (GRCm39) |
|
probably null |
Het |
| Krt33b |
T |
C |
11: 99,916,374 (GRCm39) |
T228A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,444,573 (GRCm39) |
E324G |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,514 (GRCm39) |
N390S |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,565,757 (GRCm39) |
Y126H |
possibly damaging |
Het |
| Muc4 |
G |
A |
16: 32,555,059 (GRCm39) |
W15* |
probably null |
Het |
| Ndrg2 |
T |
A |
14: 52,147,579 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
T |
C |
2: 180,142,226 (GRCm39) |
S6P |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,783 (GRCm39) |
I213T |
probably benign |
Het |
| Or5p70 |
G |
A |
7: 107,994,707 (GRCm39) |
V127I |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,753 (GRCm39) |
T225S |
probably benign |
Het |
| Rfng |
C |
A |
11: 120,672,842 (GRCm39) |
V294L |
probably benign |
Het |
| Scml4 |
C |
T |
10: 42,741,566 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,787 (GRCm39) |
I407V |
possibly damaging |
Het |
| Strc |
T |
C |
2: 121,201,295 (GRCm39) |
T1267A |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,341 (GRCm39) |
V566A |
probably damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,394,647 (GRCm39) |
S468P |
probably damaging |
Het |
| Tenm2 |
T |
A |
11: 35,914,626 (GRCm39) |
T2304S |
probably benign |
Het |
| Tirap |
A |
T |
9: 35,100,054 (GRCm39) |
L210Q |
probably damaging |
Het |
| Vav3 |
A |
T |
3: 109,248,557 (GRCm39) |
Q68L |
probably benign |
Het |
| Vmn2r54 |
C |
T |
7: 12,363,594 (GRCm39) |
S433N |
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,841,047 (GRCm39) |
Y244N |
probably damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,835,372 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chst2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02403:Chst2
|
APN |
9 |
95,287,285 (GRCm39) |
nonsense |
probably null |
|
|
R1240:Chst2
|
UTSW |
9 |
95,287,536 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1537:Chst2
|
UTSW |
9 |
95,288,194 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1884:Chst2
|
UTSW |
9 |
95,287,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2355:Chst2
|
UTSW |
9 |
95,288,148 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4576:Chst2
|
UTSW |
9 |
95,287,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4818:Chst2
|
UTSW |
9 |
95,287,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4928:Chst2
|
UTSW |
9 |
95,288,059 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5366:Chst2
|
UTSW |
9 |
95,287,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5902:Chst2
|
UTSW |
9 |
95,287,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Chst2
|
UTSW |
9 |
95,287,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6752:Chst2
|
UTSW |
9 |
95,286,802 (GRCm39) |
nonsense |
probably null |
|
|
R7063:Chst2
|
UTSW |
9 |
95,287,621 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8061:Chst2
|
UTSW |
9 |
95,287,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9008:Chst2
|
UTSW |
9 |
95,288,347 (GRCm39) |
start gained |
probably benign |
|
|
R9204:Chst2
|
UTSW |
9 |
95,287,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9400:Chst2
|
UTSW |
9 |
95,287,642 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9732:Chst2
|
UTSW |
9 |
95,287,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Chst2
|
UTSW |
9 |
95,286,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCAGATCTCTTGGGAAC -3'
(R):5'- TCATCTGCAACAGTATGGCC -3'
Sequencing Primer
(F):5'- GGACTGTTAACCCGCTCATAG -3'
(R):5'- AGTATGGCCAAGACGCTGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation