Incidental Mutation 'R9787:Chst13'
ID |
734397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chst13
|
Ensembl Gene |
ENSMUSG00000056643 |
Gene Name |
carbohydrate sulfotransferase 13 |
Synonyms |
1110067M19Rik, C4ST-3, Chst13 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R9787 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
90285333-90302167 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90286074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 296
(R296H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064897
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054799]
[ENSMUST00000070890]
[ENSMUST00000167550]
|
AlphaFold |
D3Z6E3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054799
|
SMART Domains |
Protein: ENSMUSP00000058483 Gene: ENSMUSG00000049694
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070890
AA Change: R296H
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000064897 Gene: ENSMUSG00000056643 AA Change: R296H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_2
|
94 |
328 |
7.5e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167550
|
SMART Domains |
Protein: ENSMUSP00000132052 Gene: ENSMUSG00000049694
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
low complexity region
|
81 |
92 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
Fam184a |
T |
A |
10: 53,626,864 (GRCm39) |
D38V |
possibly damaging |
Het |
Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
Gin1 |
T |
A |
1: 97,703,211 (GRCm39) |
H11Q |
probably damaging |
Het |
Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
Mbnl1 |
T |
A |
3: 60,503,086 (GRCm39) |
N82K |
probably damaging |
Het |
Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
Pan2 |
T |
A |
10: 128,144,223 (GRCm39) |
D157E |
probably benign |
Het |
Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
Sugp2 |
A |
G |
8: 70,695,428 (GRCm39) |
K134E |
probably benign |
Het |
Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
probably damaging |
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 |
R2301:Chst13
|
UTSW |
6 |
90,295,271 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACTGGATAAGGTCTCCAATCCAC -3'
(R):5'- CTTCAACGAACACTGGGAGC -3'
Sequencing Primer
(F):5'- ACCAGGTTCGTTCCAGACC -3'
(R):5'- GATAGCAGATGATGCTGC -3'
|
Posted On |
2022-11-14 |