Incidental Mutation 'IGL01835:Dse'
| ID |
154944 |
| 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 # |
IGL01835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
34027389-34083711 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 34036213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048010]
[ENSMUST00000215547]
[ENSMUST00000217051]
|
| AlphaFold |
Q8BLI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048010
|
| SMART Domains |
Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
| 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 |
probably benign
Transcript: ENSMUST00000215547
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,213,957 (GRCm39) |
M728K |
probably benign |
Het |
| 2700049A03Rik |
T |
A |
12: 71,213,955 (GRCm39) |
Y727* |
probably null |
Het |
| Adam23 |
T |
C |
1: 63,582,278 (GRCm39) |
Y309H |
probably damaging |
Het |
| Ash2l |
C |
T |
8: 26,329,868 (GRCm39) |
V97M |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,149,588 (GRCm39) |
F83L |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,112,784 (GRCm39) |
S1607T |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,260,435 (GRCm39) |
M969L |
possibly damaging |
Het |
| Dusp22 |
C |
T |
13: 30,892,666 (GRCm39) |
|
probably null |
Het |
| F5 |
G |
A |
1: 164,021,937 (GRCm39) |
V1471I |
probably benign |
Het |
| Gm14403 |
A |
T |
2: 177,199,049 (GRCm39) |
E48D |
probably damaging |
Het |
| Gm6309 |
G |
A |
5: 146,105,085 (GRCm39) |
A276V |
probably damaging |
Het |
| Icam4 |
A |
T |
9: 20,941,086 (GRCm39) |
T113S |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,163,650 (GRCm39) |
V236A |
probably benign |
Het |
| Mrc2 |
T |
G |
11: 105,227,503 (GRCm39) |
F579V |
probably damaging |
Het |
| Myl4 |
T |
A |
11: 104,468,279 (GRCm39) |
M1K |
probably null |
Het |
| Oas3 |
A |
T |
5: 120,904,193 (GRCm39) |
C560* |
probably null |
Het |
| Or2w25 |
T |
C |
11: 59,504,165 (GRCm39) |
V125A |
probably damaging |
Het |
| Or52e18 |
T |
C |
7: 104,609,669 (GRCm39) |
N90S |
probably benign |
Het |
| Prlr |
G |
A |
15: 10,329,129 (GRCm39) |
V535I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,165,058 (GRCm39) |
T48A |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,131,461 (GRCm39) |
H485R |
possibly damaging |
Het |
| Rnf13 |
A |
T |
3: 57,728,007 (GRCm39) |
H229L |
probably damaging |
Het |
| Rpap3 |
T |
C |
15: 97,601,120 (GRCm39) |
D39G |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,357,035 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
A |
2: 129,457,484 (GRCm39) |
F186Y |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,268,040 (GRCm39) |
Y473H |
probably benign |
Het |
| Slc36a2 |
T |
C |
11: 55,053,559 (GRCm39) |
I360V |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,918,705 (GRCm39) |
R975C |
probably benign |
Het |
| Sppl2b |
T |
A |
10: 80,701,175 (GRCm39) |
I350N |
probably damaging |
Het |
| Tas2r139 |
A |
T |
6: 42,118,366 (GRCm39) |
N166I |
probably benign |
Het |
| Trav14n-3 |
A |
G |
14: 53,607,786 (GRCm39) |
T39A |
possibly damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,950,015 (GRCm39) |
M812V |
probably benign |
Het |
| Vmn2r87 |
A |
C |
10: 130,314,978 (GRCm39) |
F203V |
probably damaging |
Het |
| Vwde |
A |
C |
6: 13,186,823 (GRCm39) |
V888G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,749 (GRCm39) |
|
probably null |
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 |
|
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 |
|
IGL02504:Dse
|
APN |
10 |
34,028,796 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation