Incidental Mutation 'R5992:Chsy3'
ID |
480925 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Chsy3
|
Ensembl Gene |
ENSMUSG00000058152 |
Gene Name |
chondroitin sulfate synthase 3 |
Synonyms |
4833446K15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5992 (G1)
|
Quality Score |
163.468 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
59308412-59544408 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GT to G
at 59309238 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
at position 163
(163)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080721]
|
AlphaFold |
Q5DTK1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000080721
AA Change: 163
|
SMART Domains |
Protein: ENSMUSP00000079546 Gene: ENSMUSG00000058152 AA Change: 163
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
T |
A |
17: 45,819,549 (GRCm39) |
L188* |
probably null |
Het |
Acod1 |
C |
T |
14: 103,292,471 (GRCm39) |
R332C |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,839,194 (GRCm39) |
K852M |
probably damaging |
Het |
Adm |
A |
T |
7: 110,226,903 (GRCm39) |
|
probably benign |
Het |
Aff4 |
A |
G |
11: 53,263,837 (GRCm39) |
S286G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,753,300 (GRCm39) |
|
probably null |
Het |
Aqr |
A |
T |
2: 113,973,530 (GRCm39) |
Y427* |
probably null |
Het |
Arid1b |
C |
A |
17: 5,045,231 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
A |
9: 111,972,553 (GRCm39) |
R259* |
probably null |
Het |
Cep290 |
C |
T |
10: 100,379,183 (GRCm39) |
A55V |
possibly damaging |
Het |
Clcn2 |
T |
C |
16: 20,532,404 (GRCm39) |
E68G |
possibly damaging |
Het |
Corin |
T |
A |
5: 72,473,732 (GRCm39) |
H699L |
probably benign |
Het |
Cyld |
T |
C |
8: 89,459,681 (GRCm39) |
Y446H |
probably damaging |
Het |
Dcst1 |
T |
A |
3: 89,259,883 (GRCm39) |
E613V |
probably damaging |
Het |
Dlk1 |
T |
C |
12: 109,421,507 (GRCm39) |
C74R |
probably damaging |
Het |
Dnah12 |
A |
C |
14: 26,418,496 (GRCm39) |
K128T |
probably benign |
Het |
Dspp |
T |
A |
5: 104,326,317 (GRCm39) |
S893R |
unknown |
Het |
Dtl |
A |
T |
1: 191,300,684 (GRCm39) |
|
probably null |
Het |
F2rl1 |
T |
A |
13: 95,650,778 (GRCm39) |
S35C |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,819,959 (GRCm39) |
Y2562F |
probably benign |
Het |
Fgf10 |
A |
T |
13: 118,852,044 (GRCm39) |
D42V |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm21190 |
T |
A |
5: 15,729,849 (GRCm39) |
E256D |
probably damaging |
Het |
Gm5157 |
A |
G |
7: 20,919,346 (GRCm39) |
S66P |
probably damaging |
Het |
Hal |
T |
G |
10: 93,326,778 (GRCm39) |
L138R |
probably damaging |
Het |
Hsd17b3 |
T |
C |
13: 64,207,284 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
A |
T |
11: 103,504,618 (GRCm39) |
M2450K |
possibly damaging |
Het |
Lrsam1 |
T |
C |
2: 32,845,234 (GRCm39) |
T94A |
probably benign |
Het |
Macc1 |
T |
C |
12: 119,411,320 (GRCm39) |
V696A |
probably damaging |
Het |
Magi2 |
G |
A |
5: 19,432,289 (GRCm39) |
M1I |
probably null |
Het |
Marchf7 |
C |
A |
2: 60,075,564 (GRCm39) |
N674K |
probably benign |
Het |
Mfap1b |
A |
G |
2: 121,300,776 (GRCm39) |
V34A |
probably benign |
Het |
Mob3b |
G |
A |
4: 35,084,069 (GRCm39) |
S40L |
probably benign |
Het |
Ndufs2 |
A |
T |
1: 171,063,987 (GRCm39) |
V386E |
probably damaging |
Het |
Nfic |
C |
T |
10: 81,256,581 (GRCm39) |
A19T |
probably damaging |
Het |
Nfs1 |
G |
A |
2: 155,976,373 (GRCm39) |
R174W |
probably damaging |
Het |
Nin |
G |
T |
12: 70,092,298 (GRCm39) |
S670R |
possibly damaging |
Het |
Nrxn1 |
T |
C |
17: 90,930,935 (GRCm39) |
I754V |
probably benign |
Het |
Nwd1 |
T |
C |
8: 73,380,201 (GRCm39) |
|
probably null |
Het |
Or4a39 |
T |
A |
2: 89,237,223 (GRCm39) |
M67L |
probably benign |
Het |
Or4c1 |
T |
A |
2: 89,133,703 (GRCm39) |
T78S |
possibly damaging |
Het |
Or51a6 |
G |
T |
7: 102,604,216 (GRCm39) |
N197K |
probably benign |
Het |
Pcdhgb8 |
A |
G |
18: 37,896,502 (GRCm39) |
E524G |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,246,723 (GRCm39) |
R638* |
probably null |
Het |
Pkmyt1 |
G |
C |
17: 23,954,300 (GRCm39) |
W360S |
probably benign |
Het |
Plxnd1 |
C |
A |
6: 115,944,748 (GRCm39) |
|
probably null |
Het |
Poldip3 |
A |
T |
15: 83,013,430 (GRCm39) |
N322K |
probably damaging |
Het |
Prmt3 |
A |
T |
7: 49,478,695 (GRCm39) |
I419L |
probably benign |
Het |
Prss36 |
A |
T |
7: 127,544,002 (GRCm39) |
V123E |
probably damaging |
Het |
Prss58 |
A |
G |
6: 40,874,703 (GRCm39) |
I46T |
probably damaging |
Het |
Rac1 |
T |
C |
5: 143,492,753 (GRCm39) |
|
probably benign |
Het |
Rb1cc1 |
A |
G |
1: 6,304,220 (GRCm39) |
Y36C |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,218,926 (GRCm39) |
F951L |
unknown |
Het |
Rps6ka5 |
G |
T |
12: 100,541,509 (GRCm39) |
P417T |
possibly damaging |
Het |
Ryr1 |
A |
G |
7: 28,767,062 (GRCm39) |
W2967R |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,442,992 (GRCm39) |
S1679R |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,165,800 (GRCm39) |
W153G |
probably damaging |
Het |
Serpinb7 |
A |
G |
1: 107,373,726 (GRCm39) |
Y114C |
probably damaging |
Het |
Son |
T |
C |
16: 91,455,792 (GRCm39) |
M1513T |
probably benign |
Het |
Spag8 |
C |
T |
4: 43,651,534 (GRCm39) |
V447M |
probably benign |
Het |
St3gal2 |
T |
A |
8: 111,696,185 (GRCm39) |
Y257N |
probably damaging |
Het |
Tars1 |
A |
T |
15: 11,397,282 (GRCm39) |
D40E |
probably damaging |
Het |
Tlr3 |
T |
C |
8: 45,850,851 (GRCm39) |
H158R |
probably benign |
Het |
Tppp2 |
G |
T |
14: 52,156,392 (GRCm39) |
V50L |
probably benign |
Het |
Trrap |
T |
C |
5: 144,746,994 (GRCm39) |
S1503P |
probably benign |
Het |
Ttll4 |
T |
G |
1: 74,724,550 (GRCm39) |
S573R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,249,747 (GRCm39) |
N841K |
probably damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,167,068 (GRCm39) |
C688S |
probably damaging |
Het |
Vps16 |
T |
C |
2: 130,266,369 (GRCm39) |
|
probably null |
Het |
Zfp608 |
G |
A |
18: 55,032,320 (GRCm39) |
T540I |
probably benign |
Het |
Zfp775 |
G |
A |
6: 48,596,750 (GRCm39) |
R208Q |
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 |
|
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 |
R9290:Chsy3
|
UTSW |
18 |
59,542,928 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TCCCAGTTTTCGGAGCAGC -3'
(R):5'- TAGGAATCGTCGACCCCTGG -3'
Sequencing Primer
(F):5'- AGTTTTCGGAGCAGCCCCTG -3'
(R):5'- TGGCAGCGCGATGACAG -3'
|
Posted On |
2017-06-26 |