Incidental Mutation 'R9290:Chsy3'
| ID |
704241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chsy3
|
| Ensembl Gene |
ENSMUSG00000058152 |
| Gene Name |
chondroitin sulfate synthase 3 |
| Synonyms |
4833446K15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59542928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 689
(M689V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
| AlphaFold |
Q5DTK1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080721
AA Change: M689V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: M689V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
78 |
N/A |
INTRINSIC |
|
low complexity region
|
84 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
144 |
N/A |
INTRINSIC |
|
Pfam:Fringe
|
169 |
410 |
9.4e-19 |
PFAM |
|
Pfam:CHGN
|
330 |
866 |
1.4e-194 |
PFAM |
|
Pfam:Glyco_tranf_2_2
|
652 |
841 |
1.8e-7 |
PFAM |
|
Pfam:Glyco_transf_7C
|
769 |
839 |
3.2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (67/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
G |
1: 156,457,538 (GRCm39) |
K268R |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,338,330 (GRCm39) |
D464G |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,898 (GRCm39) |
T64K |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,216,536 (GRCm39) |
V164A |
probably benign |
Het |
| Cdhr2 |
T |
C |
13: 54,882,009 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Cdkn2c |
A |
C |
4: 109,518,512 (GRCm39) |
Y147* |
probably null |
Het |
| Ces1g |
A |
T |
8: 94,029,545 (GRCm39) |
H562Q |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,853,381 (GRCm39) |
L771P |
probably benign |
Het |
| Ciita |
T |
A |
16: 10,326,513 (GRCm39) |
S235T |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,663,634 (GRCm39) |
R755W |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,386,313 (GRCm39) |
K396E |
probably benign |
Het |
| Dgki |
C |
T |
6: 37,276,780 (GRCm39) |
C35Y |
unknown |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dnai7 |
T |
C |
6: 145,148,688 (GRCm39) |
E57G |
unknown |
Het |
| Eif3a |
A |
G |
19: 60,765,221 (GRCm39) |
V322A |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,197,120 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Garin2 |
T |
A |
12: 78,759,028 (GRCm39) |
V116E |
possibly damaging |
Het |
| Gm19410 |
T |
A |
8: 36,269,386 (GRCm39) |
C1074S |
probably damaging |
Het |
| Gtf3c3 |
T |
G |
1: 54,477,997 (GRCm39) |
E26A |
possibly damaging |
Het |
| Hps5 |
T |
C |
7: 46,424,331 (GRCm39) |
E514G |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,302,647 (GRCm39) |
D154E |
|
Het |
| Insm1 |
T |
C |
2: 146,065,273 (GRCm39) |
V363A |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,886,523 (GRCm39) |
M120K |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 75,023,488 (GRCm39) |
I527F |
probably benign |
Het |
| Lrtm2 |
A |
G |
6: 119,297,792 (GRCm39) |
L83P |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,425,960 (GRCm39) |
H2421Q |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,997,375 (GRCm39) |
E1731G |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,437,667 (GRCm39) |
H168L |
probably benign |
Het |
| Nxph4 |
A |
T |
10: 127,362,546 (GRCm39) |
V115E |
probably damaging |
Het |
| Ofcc1 |
A |
T |
13: 40,433,802 (GRCm39) |
I101N |
possibly damaging |
Het |
| Oog2 |
T |
C |
4: 143,923,015 (GRCm39) |
F427L |
probably benign |
Het |
| Or4c115 |
A |
G |
2: 88,928,076 (GRCm39) |
L65P |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,967 (GRCm39) |
I278N |
possibly damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,209 (GRCm39) |
N18S |
probably benign |
Het |
| Or8b48 |
T |
C |
9: 38,493,334 (GRCm39) |
S254P |
probably damaging |
Het |
| Or8g27 |
A |
G |
9: 39,129,531 (GRCm39) |
R293G |
probably damaging |
Het |
| Otop1 |
T |
G |
5: 38,455,302 (GRCm39) |
I232S |
probably benign |
Het |
| Pak6 |
G |
A |
2: 118,523,883 (GRCm39) |
R346Q |
probably damaging |
Het |
| Pbk |
A |
T |
14: 66,054,713 (GRCm39) |
M282L |
probably benign |
Het |
| Pmpcb |
T |
C |
5: 21,944,009 (GRCm39) |
|
probably null |
Het |
| Pou5f2 |
T |
A |
13: 78,173,585 (GRCm39) |
W176R |
probably damaging |
Het |
| Prkra |
G |
T |
2: 76,478,147 (GRCm39) |
S18R |
probably benign |
Het |
| Prune2 |
G |
T |
19: 17,145,691 (GRCm39) |
A2764S |
probably benign |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,221 (GRCm39) |
D403E |
probably benign |
Het |
| Pxylp1 |
T |
C |
9: 96,722,089 (GRCm39) |
E54G |
probably damaging |
Het |
| Rap1gap |
G |
A |
4: 137,446,222 (GRCm39) |
A325T |
probably damaging |
Het |
| Raver2 |
G |
A |
4: 100,977,387 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
T |
C |
5: 53,810,745 (GRCm39) |
V455A |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,702,823 (GRCm39) |
I397F |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,421,499 (GRCm39) |
M148I |
probably benign |
Het |
| Sec16b |
A |
G |
1: 157,373,816 (GRCm39) |
Q496R |
probably damaging |
Het |
| Sned1 |
C |
A |
1: 93,199,385 (GRCm39) |
C488* |
probably null |
Het |
| Snupn |
G |
T |
9: 56,882,547 (GRCm39) |
V187F |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,183,225 (GRCm39) |
D1016G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,204 (GRCm39) |
M1517T |
possibly damaging |
Het |
| Them4 |
G |
T |
3: 94,231,630 (GRCm39) |
G156C |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,675,124 (GRCm39) |
S721P |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,246,767 (GRCm39) |
S26P |
probably damaging |
Het |
| Ube2e3 |
A |
G |
2: 78,750,324 (GRCm39) |
I183M |
probably damaging |
Het |
| Uhrf2 |
A |
G |
19: 30,055,416 (GRCm39) |
Y389C |
probably damaging |
Het |
| Utp4 |
T |
A |
8: 107,642,828 (GRCm39) |
D495E |
possibly damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Vmn1r219 |
G |
A |
13: 23,347,399 (GRCm39) |
G196E |
probably damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,395 (GRCm39) |
S493L |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,915,385 (GRCm39) |
T111A |
probably benign |
Het |
| Zbtb40 |
G |
T |
4: 136,745,529 (GRCm39) |
A168E |
probably benign |
Het |
| Zscan18 |
A |
T |
7: 12,508,054 (GRCm39) |
I482N |
probably damaging |
Het |
|
| Other mutations in Chsy3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01472:Chsy3
|
APN |
18 |
59,309,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01543:Chsy3
|
APN |
18 |
59,543,472 (GRCm39) |
nonsense |
probably null |
|
|
IGL01627:Chsy3
|
APN |
18 |
59,309,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02232:Chsy3
|
APN |
18 |
59,542,383 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02604:Chsy3
|
APN |
18 |
59,542,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02888:Chsy3
|
APN |
18 |
59,543,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03199:Chsy3
|
APN |
18 |
59,309,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bajo
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
|
bajo2
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
inferior
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0045:Chsy3
|
UTSW |
18 |
59,542,078 (GRCm39) |
nonsense |
probably null |
|
|
R0456:Chsy3
|
UTSW |
18 |
59,309,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Chsy3
|
UTSW |
18 |
59,542,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1068:Chsy3
|
UTSW |
18 |
59,543,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Chsy3
|
UTSW |
18 |
59,541,985 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1654:Chsy3
|
UTSW |
18 |
59,309,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
|
R1938:Chsy3
|
UTSW |
18 |
59,542,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Chsy3
|
UTSW |
18 |
59,312,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Chsy3
|
UTSW |
18 |
59,309,544 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3693:Chsy3
|
UTSW |
18 |
59,309,080 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3787:Chsy3
|
UTSW |
18 |
59,542,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3811:Chsy3
|
UTSW |
18 |
59,309,242 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3878:Chsy3
|
UTSW |
18 |
59,542,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Chsy3
|
UTSW |
18 |
59,312,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4385:Chsy3
|
UTSW |
18 |
59,309,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4512:Chsy3
|
UTSW |
18 |
59,543,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4734:Chsy3
|
UTSW |
18 |
59,312,485 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4751:Chsy3
|
UTSW |
18 |
59,308,872 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4982:Chsy3
|
UTSW |
18 |
59,542,839 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4982:Chsy3
|
UTSW |
18 |
59,542,647 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5032:Chsy3
|
UTSW |
18 |
59,312,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5088:Chsy3
|
UTSW |
18 |
59,312,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5220:Chsy3
|
UTSW |
18 |
59,543,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5257:Chsy3
|
UTSW |
18 |
59,542,866 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5259:Chsy3
|
UTSW |
18 |
59,543,318 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5558:Chsy3
|
UTSW |
18 |
59,309,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5872:Chsy3
|
UTSW |
18 |
59,309,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
|
R5992:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
|
R6064:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
|
R6065:Chsy3
|
UTSW |
18 |
59,309,238 (GRCm39) |
frame shift |
probably null |
|
|
R6182:Chsy3
|
UTSW |
18 |
59,312,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6881:Chsy3
|
UTSW |
18 |
59,312,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6985:Chsy3
|
UTSW |
18 |
59,309,560 (GRCm39) |
splice site |
probably null |
|
|
R7046:Chsy3
|
UTSW |
18 |
59,542,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7078:Chsy3
|
UTSW |
18 |
59,309,149 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7105:Chsy3
|
UTSW |
18 |
59,309,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Chsy3
|
UTSW |
18 |
59,543,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7151:Chsy3
|
UTSW |
18 |
59,542,357 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7224:Chsy3
|
UTSW |
18 |
59,542,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7860:Chsy3
|
UTSW |
18 |
59,542,299 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7936:Chsy3
|
UTSW |
18 |
59,542,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Chsy3
|
UTSW |
18 |
59,543,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Chsy3
|
UTSW |
18 |
59,312,519 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8215:Chsy3
|
UTSW |
18 |
59,308,941 (GRCm39) |
nonsense |
probably null |
|
|
R8332:Chsy3
|
UTSW |
18 |
59,542,087 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8375:Chsy3
|
UTSW |
18 |
59,312,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Chsy3
|
UTSW |
18 |
59,543,130 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8700:Chsy3
|
UTSW |
18 |
59,309,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9040:Chsy3
|
UTSW |
18 |
59,542,760 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9413:Chsy3
|
UTSW |
18 |
59,309,170 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9490:Chsy3
|
UTSW |
18 |
59,312,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTGGAAGGTACGACATTTTC -3'
(R):5'- GAGGATTTCTCATATGGGTGACC -3'
Sequencing Primer
(F):5'- GGAAGGTACGACATTTTCTTGAG -3'
(R):5'- ACCTTTGGGTCATACTGGCTAAAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation