Incidental Mutation 'IGL02504:Dse'
| ID |
296221 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dse
|
| Ensembl Gene |
ENSMUSG00000039497 |
| Gene Name |
dermatan sulfate epimerase |
| Synonyms |
Sart2, B130024B19Rik, DS-epi1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.205)
|
| Stock # |
IGL02504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34028796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 765
(Q765K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000217051]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048010
AA Change: Q765K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Q765K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:DUF4962
|
24 |
353 |
5.2e-11 |
PFAM |
|
low complexity region
|
558 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
815 |
N/A |
INTRINSIC |
|
transmembrane domain
|
901 |
923 |
N/A |
INTRINSIC |
|
transmembrane domain
|
935 |
952 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216774
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217051
|
| Coding Region Coverage |
|
| 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 is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,411,232 (GRCm39) |
N142I |
probably benign |
Het |
| Asf1b |
A |
G |
8: 84,682,458 (GRCm39) |
M1V |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,329,978 (GRCm39) |
C278R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,428,384 (GRCm39) |
L692Q |
probably damaging |
Het |
| Cd207 |
T |
A |
6: 83,654,788 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,447,779 (GRCm39) |
N548K |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,809,743 (GRCm39) |
G2659D |
unknown |
Het |
| Cpa6 |
A |
T |
1: 10,559,144 (GRCm39) |
Y75N |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,793,056 (GRCm39) |
V264L |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,930,141 (GRCm39) |
I155L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,757,951 (GRCm39) |
I51T |
probably benign |
Het |
| Fam219b |
A |
T |
9: 57,445,351 (GRCm39) |
M87L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,094 (GRCm39) |
R3766C |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,966,606 (GRCm39) |
M309R |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,598,887 (GRCm39) |
N670K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,809,199 (GRCm39) |
N1839K |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,939 (GRCm39) |
H195R |
probably damaging |
Het |
| Gm14179 |
A |
T |
11: 99,634,003 (GRCm39) |
|
|
Het |
| Grm5 |
A |
G |
7: 87,779,980 (GRCm39) |
N1172S |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,205,799 (GRCm39) |
T64A |
possibly damaging |
Het |
| Hspb7 |
G |
T |
4: 141,149,131 (GRCm39) |
E12D |
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,406,799 (GRCm39) |
N155D |
possibly damaging |
Het |
| Klhl24 |
A |
T |
16: 19,934,693 (GRCm39) |
R389* |
probably null |
Het |
| Kmt2b |
A |
G |
7: 30,285,968 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,827,727 (GRCm39) |
I469F |
unknown |
Het |
| Mto1 |
A |
T |
9: 78,368,209 (GRCm39) |
D451V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,400,177 (GRCm39) |
D477V |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,236 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,696,748 (GRCm39) |
Y420* |
probably null |
Het |
| Ppp2r5d |
A |
T |
17: 47,011,019 (GRCm39) |
D27E |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,591,757 (GRCm39) |
L596P |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,056 (GRCm39) |
I169V |
probably benign |
Het |
| Rtl9 |
A |
T |
X: 141,885,287 (GRCm39) |
T900S |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,676 (GRCm39) |
S905P |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,228 (GRCm39) |
G304D |
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,665,877 (GRCm39) |
L72P |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,428,203 (GRCm39) |
H166Q |
probably benign |
Het |
| Sgcb |
A |
G |
5: 73,801,718 (GRCm39) |
I49T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,507 (GRCm39) |
W327R |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,092,293 (GRCm39) |
E491K |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,656,213 (GRCm39) |
H254Q |
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,523,271 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,847,476 (GRCm39) |
C929* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,628,494 (GRCm39) |
W12809* |
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,400 (GRCm39) |
M217K |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,263,031 (GRCm39) |
V4261A |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,242,254 (GRCm39) |
I82T |
probably benign |
Het |
| Usp21 |
A |
G |
1: 171,112,596 (GRCm39) |
I266T |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,079,551 (GRCm39) |
H321Q |
probably damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,655 (GRCm39) |
Y125S |
probably benign |
Het |
|
| Other mutations in Dse |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00943:Dse
|
APN |
10 |
34,038,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Dse
|
APN |
10 |
34,028,772 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01835:Dse
|
APN |
10 |
34,036,213 (GRCm39) |
splice site |
probably benign |
|
|
IGL01942:Dse
|
APN |
10 |
34,031,989 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02047:Dse
|
APN |
10 |
34,038,841 (GRCm39) |
nonsense |
probably null |
|
|
IGL02208:Dse
|
APN |
10 |
34,028,433 (GRCm39) |
missense |
probably benign |
|
|
IGL02306:Dse
|
APN |
10 |
34,036,130 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02626:Dse
|
APN |
10 |
34,029,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02812:Dse
|
APN |
10 |
34,059,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0018:Dse
|
UTSW |
10 |
34,029,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0018:Dse
|
UTSW |
10 |
34,029,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0131:Dse
|
UTSW |
10 |
34,029,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Dse
|
UTSW |
10 |
34,028,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1502:Dse
|
UTSW |
10 |
34,029,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Dse
|
UTSW |
10 |
34,029,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1736:Dse
|
UTSW |
10 |
34,029,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1858:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1859:Dse
|
UTSW |
10 |
34,029,225 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1868:Dse
|
UTSW |
10 |
34,029,284 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1959:Dse
|
UTSW |
10 |
34,036,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2082:Dse
|
UTSW |
10 |
34,031,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2325:Dse
|
UTSW |
10 |
34,060,043 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2883:Dse
|
UTSW |
10 |
34,028,503 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3436:Dse
|
UTSW |
10 |
34,028,470 (GRCm39) |
missense |
probably benign |
|
|
R3818:Dse
|
UTSW |
10 |
34,029,429 (GRCm39) |
missense |
probably benign |
|
|
R4158:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4160:Dse
|
UTSW |
10 |
34,029,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4229:Dse
|
UTSW |
10 |
34,038,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4414:Dse
|
UTSW |
10 |
34,028,632 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4667:Dse
|
UTSW |
10 |
34,029,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Dse
|
UTSW |
10 |
34,029,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Dse
|
UTSW |
10 |
34,029,584 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5154:Dse
|
UTSW |
10 |
34,029,657 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5573:Dse
|
UTSW |
10 |
34,028,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5804:Dse
|
UTSW |
10 |
34,029,375 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5844:Dse
|
UTSW |
10 |
34,029,038 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5895:Dse
|
UTSW |
10 |
34,028,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6290:Dse
|
UTSW |
10 |
34,028,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6600:Dse
|
UTSW |
10 |
34,028,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7088:Dse
|
UTSW |
10 |
34,029,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7254:Dse
|
UTSW |
10 |
34,060,144 (GRCm39) |
start gained |
probably benign |
|
|
R7491:Dse
|
UTSW |
10 |
34,028,561 (GRCm39) |
missense |
probably benign |
|
|
R7989:Dse
|
UTSW |
10 |
34,029,454 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Dse
|
UTSW |
10 |
34,028,316 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8799:Dse
|
UTSW |
10 |
34,060,149 (GRCm39) |
start gained |
probably benign |
|
|
R8862:Dse
|
UTSW |
10 |
34,029,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation