Incidental Mutation 'R0750:Hs6st3'
| ID |
70289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hs6st3
|
| Ensembl Gene |
ENSMUSG00000053465 |
| Gene Name |
heparan sulfate 6-O-sulfotransferase 3 |
| Synonyms |
6OST3 |
| MMRRC Submission |
038930-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
R0750 (G1)
|
| Quality Score |
116 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
119375753-120107227 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
CGGAGGAGGAGGAGGAGGA to CGGAGGAGGAGGAGGA
at 119376119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065904]
|
| AlphaFold |
Q9QYK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065904
|
| SMART Domains |
Protein: ENSMUSP00000070394
Gene: ENSMUSG00000053465
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
115 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
137 |
410 |
4.7e-83 |
PFAM |
|
low complexity region
|
425 |
447 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
T |
4: 156,251,394 (GRCm39) |
L1974* |
probably null |
Het |
| Brd4 |
T |
C |
17: 32,439,226 (GRCm39) |
E418G |
probably benign |
Het |
| Brip1 |
G |
A |
11: 85,952,325 (GRCm39) |
S1152L |
possibly damaging |
Het |
| Btrc |
T |
G |
19: 45,491,585 (GRCm39) |
F81C |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,157,642 (GRCm39) |
L585P |
probably damaging |
Het |
| Cfap46 |
T |
G |
7: 139,234,586 (GRCm39) |
E671D |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,473,210 (GRCm39) |
L761P |
probably benign |
Het |
| Ece2 |
G |
T |
16: 20,451,800 (GRCm39) |
V396L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,682 (GRCm39) |
|
probably benign |
Het |
| Id2 |
A |
G |
12: 25,145,670 (GRCm39) |
S114P |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,861,839 (GRCm39) |
F1133S |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,707 (GRCm39) |
|
probably null |
Het |
| Krt35 |
A |
G |
11: 99,986,979 (GRCm39) |
S12P |
possibly damaging |
Het |
| Or5a1 |
T |
C |
19: 12,098,077 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,545,905 (GRCm39) |
F479S |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Tmed6 |
T |
C |
8: 107,788,401 (GRCm39) |
Y182C |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,787 (GRCm39) |
N14K |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,660,356 (GRCm39) |
L33P |
possibly damaging |
Het |
| Vmn1r16 |
T |
C |
6: 57,299,812 (GRCm39) |
Y270C |
probably benign |
Het |
| Vps37d |
A |
T |
5: 135,103,294 (GRCm39) |
L116Q |
possibly damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,493 (GRCm39) |
S486G |
probably benign |
Het |
|
| Other mutations in Hs6st3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Hs6st3
|
APN |
14 |
119,376,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00973:Hs6st3
|
APN |
14 |
120,106,819 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02185:Hs6st3
|
APN |
14 |
120,106,296 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02696:Hs6st3
|
APN |
14 |
120,106,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02820:Hs6st3
|
APN |
14 |
119,376,492 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0241:Hs6st3
|
UTSW |
14 |
119,376,232 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0241:Hs6st3
|
UTSW |
14 |
119,376,232 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0634:Hs6st3
|
UTSW |
14 |
120,106,474 (GRCm39) |
nonsense |
probably null |
|
|
R0737:Hs6st3
|
UTSW |
14 |
120,106,795 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1975:Hs6st3
|
UTSW |
14 |
119,375,888 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1977:Hs6st3
|
UTSW |
14 |
119,375,888 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2025:Hs6st3
|
UTSW |
14 |
120,106,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Hs6st3
|
UTSW |
14 |
120,106,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Hs6st3
|
UTSW |
14 |
119,375,857 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3154:Hs6st3
|
UTSW |
14 |
120,106,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5700:Hs6st3
|
UTSW |
14 |
119,376,199 (GRCm39) |
nonsense |
probably null |
|
|
R5744:Hs6st3
|
UTSW |
14 |
119,375,852 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5852:Hs6st3
|
UTSW |
14 |
120,106,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5861:Hs6st3
|
UTSW |
14 |
119,376,265 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6262:Hs6st3
|
UTSW |
14 |
119,376,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6408:Hs6st3
|
UTSW |
14 |
119,376,046 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7140:Hs6st3
|
UTSW |
14 |
119,376,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7598:Hs6st3
|
UTSW |
14 |
120,106,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7954:Hs6st3
|
UTSW |
14 |
120,106,522 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8026:Hs6st3
|
UTSW |
14 |
120,106,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9471:Hs6st3
|
UTSW |
14 |
119,376,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9746:Hs6st3
|
UTSW |
14 |
120,106,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9773:Hs6st3
|
UTSW |
14 |
120,106,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCCCGAAACTTCCGAGCAG -3'
(R):5'- TGTGCAGGAACACGATCACATCC -3'
Sequencing Primer
(F):5'- TCGTGGTCATCATGTACCAG -3'
(R):5'- GATCACATCCCGCCCTTTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation