Incidental Mutation 'R2301:Chst13'
| ID |
244422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chst13
|
| Ensembl Gene |
ENSMUSG00000056643 |
| Gene Name |
carbohydrate sulfotransferase 13 |
| Synonyms |
1110067M19Rik, C4ST-3, Chst13 |
| MMRRC Submission |
040300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R2301 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90285333-90302167 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90295271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 47
(S47R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070890]
|
| AlphaFold |
D3Z6E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070890
AA Change: S47R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000064897
Gene: ENSMUSG00000056643
AA Change: S47R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Sulfotransfer_2
|
94 |
328 |
7.5e-57 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Catsper1 |
A |
G |
19: 5,390,426 (GRCm39) |
K602E |
probably benign |
Het |
| Clrn1 |
T |
G |
3: 58,753,773 (GRCm39) |
Y196S |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,595,394 (GRCm39) |
S2022P |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,354,606 (GRCm39) |
F3123I |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,501,973 (GRCm39) |
E532K |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,899,970 (GRCm39) |
D970E |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,045,369 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm16380 |
A |
G |
9: 53,791,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2a1l |
G |
T |
17: 89,018,900 (GRCm39) |
R328L |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,491,600 (GRCm39) |
F3679L |
probably benign |
Het |
| Itgb8 |
T |
C |
12: 119,166,190 (GRCm39) |
I114V |
probably benign |
Het |
| Klf10 |
A |
G |
15: 38,297,326 (GRCm39) |
V223A |
possibly damaging |
Het |
| Lyn |
G |
A |
4: 3,780,959 (GRCm39) |
R345H |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,731,512 (GRCm39) |
C63S |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,927 (GRCm39) |
T960A |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,763,996 (GRCm39) |
S27L |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,584,621 (GRCm39) |
V9E |
probably benign |
Het |
| Pcdha1 |
A |
G |
18: 37,289,236 (GRCm39) |
Y864C |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,586 (GRCm39) |
K1758E |
probably benign |
Het |
| Polk |
T |
C |
13: 96,620,652 (GRCm39) |
E516G |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,784,166 (GRCm39) |
R636Q |
probably benign |
Het |
| Tmem139 |
G |
T |
6: 42,240,364 (GRCm39) |
C57F |
possibly damaging |
Het |
| Traf5 |
T |
C |
1: 191,729,926 (GRCm39) |
N375S |
probably benign |
Het |
| Tti2 |
T |
C |
8: 31,645,823 (GRCm39) |
V379A |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,366,131 (GRCm39) |
E92G |
probably benign |
Het |
|
| Other mutations in Chst13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03264:Chst13
|
APN |
6 |
90,286,193 (GRCm39) |
nonsense |
probably null |
|
|
E0374:Chst13
|
UTSW |
6 |
90,286,174 (GRCm39) |
nonsense |
probably null |
|
|
PIT4520001:Chst13
|
UTSW |
6 |
90,286,167 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2849:Chst13
|
UTSW |
6 |
90,286,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3522:Chst13
|
UTSW |
6 |
90,295,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Chst13
|
UTSW |
6 |
90,286,551 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5560:Chst13
|
UTSW |
6 |
90,295,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Chst13
|
UTSW |
6 |
90,286,554 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6306:Chst13
|
UTSW |
6 |
90,286,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6393:Chst13
|
UTSW |
6 |
90,302,063 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6572:Chst13
|
UTSW |
6 |
90,286,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7611:Chst13
|
UTSW |
6 |
90,285,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7767:Chst13
|
UTSW |
6 |
90,286,566 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7880:Chst13
|
UTSW |
6 |
90,302,062 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9002:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9010:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9296:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9318:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9319:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9397:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9461:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9481:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Chst13
|
UTSW |
6 |
90,286,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Chst13
|
UTSW |
6 |
90,295,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Chst13
|
UTSW |
6 |
90,286,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATCACAGGCCTCAGTTGTG -3'
(R):5'- CCCAAGGACACTGTTCTACCAG -3'
Sequencing Primer
(F):5'- CAGTTGTGGTGGGAGAGATTATAAG -3'
(R):5'- TCACCTATCAAATACCCAGGAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation